Oral mucosa reflects the health of the whole human body at a first glance.If any disorder is present in the system it will first appear in oral cavity. Here is an overview of certain pigmented lesions.
3. INTRODUCTION
The word pigment is derived from latin
word meaning “colour or colouring”
Normal skin pigmentation is influenced by:
Degree of vascularity
Amount & location of melanin
Presence of carotene
Thickness of the horny layer
4.
5. Overproduction Over
population
Sun Benign nevi, malignant
exposure,drugs,hormones melanoma
6. PIGMENTED LESIONS
Diffuse & bilateral Focal
Adult onset Red-blue-purple Blue-grey Brown
Systemic No Blanching
systemic
•Addisons •Amalgam •Melanotic
•Varix
• Drug
disease •Hemagioma Tattoo macule
•Heavy induced •Foreign •Pigmented
• Post infl Non Body tattoo nevus
metal
•Kaposis ammatory •blanching •Blue nevus •Melanoma
• Smokers •Melano
sarcoma •
melanosis Thrombus acanthoma
•Hematoma
Adel Kauzman, Marisa Pavone, Nick Blanas. Pigmented Lesions of the Oral Cavity: Review, Differential
Diagnosis, and Case Presentations. Journal of the Canadian Dental Association.
November 2004, Vol. 70, No. 10
7. PIGMENTED LESIONS
ENDOGENOUS
Hemoglobin
Varix, hemangioma, Kaposi sarcoma,
Circulating erythrocytes
coursing through patent vessels. angiosarcoma, hereditary
hemorrhagic telangiectasia
•consequence of blood
Hemosiderin
extravasation- trauma or a defect
Ecchymosis, Petechia, Thrombosed
•generalized hemosiderin tissue Varix, Hemorrhagic Mucocele,
deposition-Hemochromatosis Hemochromatosis
PIGMENTED
Melanotic Macule, Nevus,
Melanoma, Basilar Melanosis With
Incontinence
8. Exogenous Pigmentation of Oral Mucosa
Source Color Disease Process
Silver amalgam Gray, black Tattoo,iatrogenic
trauma
Graphite Gray, black Tattoo, trauma
Lead, mercury, Gray Ingestion of paint
bismuth or medicinals
Chromogenic Black, brown, Superficial
bacteria green colonization
9. HEMANGIOMA
Childhood-hamartoma; adult-varicosity
Etiology : congenital & traumatic
colour-depth of vascular proliferation
Tongue (intrinsic muscles), lip, buccal mucosa & palate
(
Raised, nodular
Benign vascular hamartomas-range from- flat reddish
blue macule to a nodular blue tumefaction
Congenital- strawberry nevus
10. Port wine stain involves facial skin is flat &magenta I
colour.
Skull radiograph: vessel wall calcification yield
bilamellar radiopaque tracks
“Tram line calcification”
Bubbly or honeycomb trabeculated appearance
Overlying cortex is expanded and thinned, but
complete cortical disruption and invasion into soft
tissue are not present
Diascopy
Intraluminal clots form- palpable and do not blanch
14. Histopathology
Cavernous -large dilated vascular channels lined
by endothelial cells without a muscular coat
Cellular/capillary-endothelial proliferation,
vascular lumina are very small
Intramuscular –deep lesions
15. Sturge Weber syndrome
Encephalotrigeminal angiomatosis
Port wine stain (nevus flammeus) –
leptomeninges of cerebral cortex
Mental retardation, hemiparesis, seizures
Ocular lesions
Calcification
d/d- angioosteohypertrophy syndrome
Port wine stain + varices + hypertrophy of bone
16.
17. Hemangioma Vascular
malformation
Description Ab endothelial cell Ab blood vessel
proliferation development
Elements Inc no of capillaries Mix of artery, vein,
capillaries (AV shunt)
Growth Rapid congenital, Grows throughout
ceases puberty
Boundaries Circumscribed;rarely Poorly circumscribed
affects bone
Thrill & bruit absent present
Involution Spontaneous Does not involute
Resection Easy Difficult, surgical
haemorrhage
Recurrence Uncommon Common
18. Blue rubber bleb nevus
syndrome
Bean’s syndrome
Multiple small & large cavernous hemagioma
Skin & GI tract + mouth
Childhood/young adulthood
Life threatening-blood loss->anemia & Fe
deficiency
19. Varix
Pathologic dilatations of veins or venules are
varices or varicosities
Site- ventral tongue- tortuous ,serpentine
blue, red, and purple elevations
Progressively prominent with age
degenerative change in the adventitia of the
venous wall-painless & non haemorrhagic
interfere with mastication
21. ANGIOSARCOMA
Malignant vascular neoplasm.
Arise anywhere in body
Colour: red ,blue or purple .
Rapidly proliferative present as nodular tumor.
can arise from blood or lymph vessel endothelial
cells / pericytic cells of vasculature.
Treated by radical excision
22. KAPOSI SARCOMA
Tumor of putative vascular origin
HHV-8
2 forms-elderly men ( oral mucosa & skin of
lower extremities) , (2) children in equatorial
africa ( lymph nodes)-aggressive & lethal
Slow progressive, less metastasis
Oral tumors - red, blue, and purple-hard
23. KAPOSI SARCOMA + HIV
Oral lesions - posterior hard palate
Begin as flat red macules of variable size and
irregular configuration
Numerous isolated and coalescing plaques
Eventually- increase in size ->nodular
growths- entire palate, protruding below the
plane of occlusion
Facial gingiva
24. D/d-pyogenic granuloma, giant cell granuloma
Bacillary angiomatosis-bartonella henselae-rare in
oral mucosa
Early stage-no t/t; later-electrocautery/excision
Intralesional 1% vinblastine sulfate-less post
injection pain-multiple biweekly injections
Proliferating spindle cells with mild pleomorphism
+ plump endothelial cells
extravasation of erythrocytes + hemosidren
granules
25. HEREDITARY HEMORRHAGIC
TELANGIECTASIA/Rendu-Osler-Weber
syndrome
Multiple round or oval purple papules
measuring less than in 0.5cm in diameter.
Genetically transmitted disease
Site: vermilion &mucosal surfaces of lips as
well as on the tongue &buccal mucosa.
multiple microaneurysms, owing to a
weakening defect in the adventitial coat of
26. Same lesion in nasal mucosa-epistaxis
differential diagnosis-petechial hemorrhages
(platelet disorder)-macular, red/blue, not
genetic
CREST syndrome
Selective embolization
electrocautery
(series of procedures)
using local anesthesia
27. Ephelis
Increase in melanin pigment synthesis by basal-layer
melanocytes, without an increase in the number of
melanocytes
Freckle
Vermilion border of lips ( lower lip). Lesion is
macular ranging from small to few cms
Solar exposure
M=f
Adults, asymptomatic
28. Oral Melanotic Macule
Intraoral counterpart
Oval or irregular outline,
Brown or black, gingiva, palate, buccal mucosa.
Once they reach a certain size, they do not tend
to enlarge further
Differential diagnosis - nevus, early superficial
spreading melanoma, amalgam tattoo, and
29. Biopsy
melanin-containing dendritic cells are seen to
extend high into a thickened spinous layer.
melanoacanthoma
Surgery –no predisposition to melanoma
Myxoma syndrome-soft tissue myxoma +
endocrinopathy
Laugier –Hunziker syndrome/phenomenon-
acquired disorder + lips,oral, finger+
subungual melanocytic streaks
30. Nevocellular Nevus/nevomelanocytic
nevus/pigmented nevus
Benign proliferations of melanocytes
Nevus cells - localized to basal layer- junction
of epithelium and basement membrane+
connective tissue
Minimal proliferation
Macular, flat and brown, regular outline
Junctional nevi
31. Melanocytes form clusters at the epitheliomesenchymal
junction
proliferate down into the connective tissue
Dome shaped appearance
Compound nevi
Lose their continuity with surface epithelium+
cells become localized - deeper connective tissues
Intradermal nevi (skin)
Intramucosal (mouth)
33. Blue nevus
Melanocytic cells reside deep in the connective tissue
and because the overlying vessels dampen the brown
coloration of melanin, yielding a blue tint
More spindle shaped + more pigment
Macular or nodular; brown intraorally
Palate, gingiva, buccal mucosa & lips
34. Malignant Melanoma
Sun exposure->malar region
Facial cutaneous melanomas –macular/ nodular
Brown -black -blue, with zones of
depigmentation.
Jagged irregular margins-nevi(smooth outline)
Elder, M>F
35. “Lentigo maligna melanoma” or “hutchinson’s
freckle”
Facial skin lesions – atypical melanocytic
hyperplasia /melanoma in situ.
Melanocytic tumor cells spread laterally and
superficially
Radial growth phase
Good prognosis
Nodular-deeper invasion-vertical growth-poor
36. Breslow method, by which millimeter depths
of invasion are measured (depth correlating
with prognosis
Oral mucosa -anterior labial gingiva, ant.
Hard palate.
They may be focal or diffuse and mosaic
37. Staging
Stage 1-primary tumor only
Level 1- melanoma in situ without evidence of
invasion/microinvasion +nt
Level 2-invasion upto lamina propria
Level 3- deep skeletal tissue-muscles
Stage 2- metastatic to regional lymph node
Stage 3- distant node metastasis
Gondivkar et al. Primary malignant melanoma-case
report & review of literature.quitesscence int vol 7; jan
2009
39. Drug induced Melanosis
Quinoline, hydroxy quinoline,amodiaquine
minocycline
Site :hard palate (large &localized) or multifocal,
throughout the mouth.
Oral contraceptives &pregnancy are associated
with hyperpigmentation of facial skin-
periorbital &perioral region -melasma or
chloasma.
Flat lesions, nail bed & skin
40. Physiological
pigmentation
Asian ,black people, dark skinned Caucasians
diffuse melanosis of facial gingiva
lingual gingiva& tongue may exhibit multiple,
diffuse & reticulated brown macule
basilar melanosis, evolves in childhood
Multifocal or diffuse pigmentation of recent
onset – investigated-endocrinopathic
disease.
41. Symmetric distribution
No gender predliction, any age
Does not alter normal architecture
Degree of intraoral pigmentation –may not
correspond cutaneous coloration
No change in intensity
42. Café au Lait Pigmentation
Color of coffee with cream
Small ephelis-like macules to broad diffuse
Late childhood and multiple
Neurofibromatosis- nodular and diffuse
pendulous neurofibromas - skin and (rarely) in
the oral cavity
Basilar melanosis without melanocyte
proliferation
McCune Albright syndrome
43. Smoker’s Melanosis
Ant labial gingiva, Buccal mucosa, lateral tongue,
palate, floor of mouth
No cause-and-effect relationship
Melanogenesis is stimulated by tobacco smoke
products
44. Brown, flat, and irregular, geographic or
maplike
basilar melanosis with melanin incontinence
No premalignant potential
Cosmetics
45. Pigmented Lichen Planus
Erosive lichen planus + diffuse melanosis
Increased production of melanin by the
melanocytes
Accumulation of melanin laden macrophages
in the superficial connective tissue
46. Endrocrinopathic Pigmentation
Addison’s disease
Granulomatous infection of cortex/ autoimmune cortical
destruction
Adrenocortical insufficiency
Steroid hormones decrease
Feedback loop stimulated
Excess secretion of ACTH
Hypotension and hypoglycemia,stimulation of MSH
49. Skin may appear tanned- bronzing of the skin
and patchy melanosis
Gingiva, palate, and buccal mucosa – blotchy
Increased hormone-dependent
melanogenesis-> accumulation of melanin
granules
Serum steroid & hormone investigation
Disappear-therapy for endocrine disease
50. HIV oral Melanosis
Hyper pigmentation of skin ,nails &mucous
membrane.
Buccal mucosa is frequently affected site
gingiva,palate,tongue may also be involved.
Etiology remains undetermined
Diffuse multifocal macular brown
pigmentations
51. Peutz-Jeghers Syndrome
hereditary intestinal polyposis syndrome
Benign hamartomatous polyps in the
gastrointestinal tract
hyperpigmented macules on the lips and oral
mucosa
Rectal bleeding, abdominal pain
52. BROWN HEME-ASSOCIATED LESIONS
Ecchymosis- large size-Traumatic-lips & face,
uncommon buccal mucosa
Traumatic event(fellatio,cheek bite,prostho app)
Erythrocyte extravasation into the submucosa
Bright red macule /swelling if a hematoma forms
brown coloration within a few days
Hemoglobin is degraded to hemosiderin
53. Retrauma- observed for 2 weeks-resolution
Hemorrhagic diathesis-ecchymosis as d/d
Anticoagulant drugs -cheek or tongue
Hereditary coagulopathic disorders & chronic
liver failure-prothrombin time and partial
thromboplastin time, clotting time-
prolonged
54. Petechia
Pinpoint hemorrhage less than 2cm
Autoimmune or idiopathic thrombocytopenic
purpura (ITP), disorders of platelet aggregation,
aspirin toxicity and myelosuppressive
chemotherapy
55. Oral –soft palate (10-30)-suction
Does not blanch on compression
Excessive suction of soft palate against the
posterior tongue -self inflicted -pruritic palate
at the
onset of a viral or an allergic pharyngitis
“click” their palate
t/t-stop activity-regression in 2 weeks
Platelet studies
57. tissue – iron - Prussian blue-elevated serum
level
Medical referral
58. Amalgam Tattoo
solitary or focal pigmentation
macular
bluish gray - even black
buccal mucosa, gingiva, or palate
vicinity of teeth- large amalgam restorations
Accidental impregnation-metal flecks-
mucosa
extraction sockets- healing phase- connective
tissue while re-epithelialization
59. Radiographs
fine brown granular stippling of reticulum
fibers, particularly around vessel walls
giant cell reaction-uncommon, infiltrate +nt
No t/t required, biopsy when distant to tooth
60. Graphite Tattoo
Palate
Traumatic implantation from a lead pencil,
school children
Macular, focal, and gray or black
61. Hairy Tongue
Unknown etiology
dorsum ,particular middle &posterior one
third.
papillae are elongated- appearance of
hairs
hyperplastic papillae (filiform) become
pigmented by colonization of
chromogenic bacteria-brown to green
colour to black
62. tea &coffee-diffuse discolouration
t/t- brush the tongue and avoid tea and coffee
for a few weeks
Recurrence + nt
63. Pigmented Neuroectodermal
tumor of infancy
Benign neoplasm-neural crest cells
Infants younger than 6 months
Maxilla > mandible> skull
Non ulcerated, dark pigmented mass
Ill defined radiolucency with developing teeth
Less metastasis
64. Heavy-Metal Ingestion
Occupational hazard
Ingested pigments tend to extravasate from
vessels in foci of increased capillary permeability
such as inflamed tissues.
Free marginal gingiva-gingival cuff, resembling
eyeliner-gray-black app
Behavioral changes, neurologic disorders, and
65. Plumbism
Lead poisoning-paints,glazes,cooking
vessels,batteries,exhaust of automobile
Oral manifestation: metallic taste, excessive
salivation,dysphagia.Burtonian line is seen when
exposure to lead is high &oral hygiene is poor at
gingival margin.
chelating agent such as edta or penicillamine.
66. Mercurialism
Pink disease, swift disease,acrodynia.
Acute or chronic
increase in saliva, itching sensation, metallic
taste, salivary glands & lymph nodes are
swollen. Tongue is enlarged
,painful,ulcerated
67. Color: diffuse grayish pigmentation of
alveolar mucosa, gums are deeper hue than
normal, teeth may exfoliate due to marked
periostitis.
Management: bed rest ,atropine to lessen
saliva flow.
Administration of BAL (British anti-lewisite)&
dimercaprol
68. Argyria
Exposure to silver compound
Cause: local &systemic absorption of silver
compound.
Oral manifestation: Diffusely distributed
through out gingival &mucosal tissue.
Management: source of contact be
eliminated.
69. Gold- Chrysiasis may be induced by
parenteral administration of gold salts,
usually for the treatment of rheumatoid
arthritis
70. Nevus of Ota
Congenital melanosis bulbi
Blue hyperpigmentation of face
Involves 1 & 2 branches of trigeminal nerve
Melanocytes trapped in upper 1/3 of dermis
71.
72.
73.
74.
75.
76.
77.
78.
79.
80.
81.
82.
83.
84.
85.
86.
87.
88. Melanin
= primary pigment producing brown coloration
Tyrosine – tyrosinase –melanin- this occurs in the
melanosomes of melanocytes
Then the melanosomes are transferred from the
melanocyte to a group of keratinocytes called
the epidermal melanin unit
Variations in skin color is related to the number
of melanosomes, the degree of melanization,
and the distribution of the epidermal melanin
unit
89. Pigmentary Demarcation
Lines
Can be divided into five categories:
Group A- lines along the outer upper arms with
variable extension across the chest
Group B-lines along the posteromedial aspect of
the lower limb
Group C-Paired median or paramedian lines on
the chest, with midline abdominal extension
Group D-medial, over the spine
Group E-bilaterally symmetrical, obliquely
oriented, hypopigmented macules on the chest
90. Pigmentary Demarcation
Lines
More than 70% of blacks have one or more
lines
These are much less common in whites
Type B lines often appear for the first time
during pregnancy
91. Normal Pigmentation
Normal skin pigmentation is influenced by:
-the degree of vascularity
-the amount & location of melanin
-the presence of carotene
-the thickness of the horny layer
92. Melanin Production
The amount produced is dependent on:
-genetics
-the amount and the wavelengths of ultraviolet
light received
-the amount of melanocyte-stimulating
hormone(MSH) secreted
- the effect of melanoccytestimulatingg chemicals
like furocoumarins (psoralens)
93. Hemosiderin
Hyperpigmnetation
Pigmentation due to deposits of hemosiderin
occurs in:
-purpura
-hemochromatosis
-hemorrhagic diseases
-stasis ulcers
** difficult to distinguish from postinflammatory
dermal melanosis clinically
94. Postinflammatory
Hyperpigmentation
Any inflammatory condition can cause either
hypopigmentation or hyperpigmentation
Also may be a complication of chemical peels,
dermabrasion, laser therapy, or liposuction
Histologically, there is melanin in the upper
dermis and around upper dermal vessels, located
primarily in macrophages (melanophages)
95. Postinflammatory
hyperpigmenation
Postinflammatory
hyperpigmentation
following resolution
of lymphocytoma
cutis on the cheek of
a black child
96. Industrial
Hyperpigmentation
Occurs in coal miners, anthracene workers,
pitch workers, etc
Pigmentation of the face may occur from the
incorporation in cosmetics of derivatives of
coal tar, petrolatum, or picric acid, mercury,
lead, bismuth, or furocoumarins (psoralens)
97. Systemic Diseases
Syphilis, malaria, pellagra, and diabetes
Addison’s disease- diffuse melanosis pronounced
in the axillae and palmar creases, and nipples
and genitals, and buccal mucosa
Diabetes produces diffuse bronzing of the skin
** patients with virilizing adrenal tumors usually
develop hyperpigmentation and hypertrichosis
100. Hemochromatosis
Skin pigmentaion is The actual pigmentation
usually generalized is caused by increased
But, more pronounced basal-layer melanin
on face, extensor aspect Mucous memebranes are
of the forearms, backs of pigmented in up to 20%
the hands, and the of patients
geniocrural area Koilonychia is present in
Iron is deposited in the 50%
skin Localized ichthyosis in
Iron is present as 40%
granules around blood Alopecia is common
vessels and sweat glands
and within macrophages
101. Dx:
Elevated plasma iron and
Occurs mostly in men in
IBP
their sixties
High serum ferritin
Women who have without an obvious cause
genetic should prompt
hemochromatosis can investigation for both
have full phenotypic hemochromatosis and
expression PCT
Extremely rare in the Etiology is either an
young inborn error of
Neonatal metabolism or excessive
hemochromatosis has number of blood
been associated with transfusions
intrauterine infections ie AR gene for heredity
cytomegalovirus hemochromatosis is
Adults with linked to the HLA-A locus
hemochromatosis are on chromosome 6p
susceptible to Yersinia
102. Hemochromatosis-tx
Phlebotomy until
satisfactory iron levels are
found
Extracorporeal chelation
has also been used
successfully
Associated DM requires
medical tx
Long-term complications
are cirrhosis and then
hepatomas
103. Melasma
Brown patches, sharply Tends to affect the darker-
demarcated, typically on complected
the malar prominences and It may also be found on the
forehead forearms
The three clinical patterns Occurs at pregnancy and at
are: centrofacial, malar, menopause
mandibular It may also be seen in
Increased pigment may ovarian disorders and other
simultaneously occur endocrine disorders
around the nipples and
external genitalia
Most frequently 90% of
the time seen in women,
10% in men
104. Tx- avoid sunlight, and a
Melasma complete sun block with
broad-spectrum UVA
coverage should be used
daily
Strong association with the Kligman’s formula
use of birth control pills or (Triluma)
dilantin > then 4% hydroquinone
Discontinuing the may be needed
contraceptives rarely clears Side effects of this is
the pigmentation, and it ochronosis and satellite
may last for years after pigmentation
discontinuing them. Jessner’s solution,
Melasma of pregnancy glycolic acid peels,azelaic
usually clears within a few acid, kojic acid, and
months of delivery cystamine and
buthionine sulfoximine
are other options
108. Acromelanosis Progressiva
AKA acropigmentation By age 4 or 5 the
A progressive pigmentary perineum, extremities,
disorder first described in a and areas of the head
Japanese infant and neck were involved
Characterized by diffuse
Epileptiform seizures
black pigmentation on the
dorsum of all the fingers occurred
and toes History revealed
Pigmentation became consanguinity
progressively more
widespread and more
pigmented
109. Pigmented Anomalies of the
Extremities
Acropigmentation of Dohi Patients develop
Found to affect individuals progressive pigmented &
from Europe, India, depigmented macules
Caribbean Often mixed in is a
First described in Japan in reticulate pattern
12 patients
Many believe this to be a
AKA dyschromatosis
variation of
symmetrica hereditaria or
symmetrical acropigmentation of
dyschromatosis of the Kitamura
extremities
110. Reticular Pigmented Anomaly
Clinically it looks smooth
of the Flexures Pigmententation is
A rare pigmentary adult- reticular; at the
onset disorder periphery, discrete,
AKA Dowling-Degos brownish black macules
disease or dark dot disease surround the partly
Should be considered confluent central
whenever acanthosis pigmented area
nigricans is in the Typically, axillae,
differential & pt is not inframmary folds, and
obese and is known not to intercrural folds are
have any internal involved
malignancy There are frequently pits,
sometimes pigmented ,
about the mouth
111. Reticular Pigmented Anomaly
of the Flexures
It begins age 20 to 30 Many authors believe it is a
spectrum of reticulate
yrs and progresses acropigmentation of
gradually Kitamura
Unknown etiology Another manifestation of
this disorder is familial-
AD with variable rocacea-like dermatitis
penetrance and with warty keratotic
expressivity, and plaques on the trunk and
limbs
delayed onset
There is no treatment
112. Histology
Distinctive elongation,
tufting, and deep
hyperpigmentation of
therete ridges, with
protrusion of similar
tufts even from the
sides of the follicles
113. Reticulate Acropigmentation
of Kitamura
AD One report of a pt with
bony abnormalities
Characterized by linear
consisting of absence of
palmar pits and terminal phalanges of the
pigmented macules 1-4 second, third, and fourth
mm in diameter on the toes
volar and dorsal Some tx success has been
aspects of the hands reported using axelaic acid
and feet ointment
114. Dermatopathia Pigmentosa
Reticularis
Consists of a triad of An autosomal
generalized reticulate
hyperpigmentation, dominant inheritance
noncicatricial alopecia, and pattern has been
onychodystrophy reported.
Other associations:
adermatoglyphia,
hypohidrosis or
hyperhidrosis,
palmoplantar
hyperkeratosis, and
nonscarring blisters on
dorsa of hands and feet.
116. Transient Neonatal Pustular
Melanosis Histologically, there are
intracorneal or
Infants develop 2- subcorneal aggregates of
3mm macules, predominantly
pustules, and ruptured neutrophils, but
pustules at birth, eosinophils may also be
found
predominantly
Dermal inflammation is
involving the face
composed of an
Pigmentation may last admixture of neuts and
for weeks or months eos
after the pustules are Differential dx: ETN,
healed neonatal acne, &
acropustulosis of infancy
119. Peutz-Jeghers Macules may also occur
around the mouth, on
the central face, backs of
the hands, especially the
Characterized by fingers, and on the toes
hyperpigmented macules and tops of the feet.
on the lips and oral Associated polyposis
mucosa and polyposis of
the small intestine involves the small
intestine preferencely
Dark brown or black
But, hamartomatous
macules appear typically
on the lips, especially the polyps of the stomach
lower lip, in infancy or and colon may occur
childhood Symptoms of
Similar lesions may hamhartomas of the
appear on buccal small intestine may cause
mucosa, tongue, gingiva, repeated bouts of
and genital mucosa abdominal pain and
vomiting, and
intussusception
120. Peutz-Jeghers Syndrome
Cosmetic tx of labial Syndrome is inherited and
macules has been transmitted as a simple
accomplished with the use mendelian dominant trait
of a 694-mm ruby laser Sporadic noninherited
incidence of malignancy cases may occur
within the polyps is 2-3% The gene (STK11) has been
Incidence of GI malignancy localized to 19p13.3
is low, but increased 19p13.3 is believed to be a
incidence of other kinds of tumor suppressor gene
cancer-breast, and
gynecologic malignancies
in women
121. Peutz-Jeghers Syndrome
A protein-losing
Cronkhite-Canada
enteropathy may
syndrome should be
develop and is associated
considered in dx
with the degree of
Characterized by intestinal polyposis
melanotic macules on Onset is after age 30 yrs
the fingers and
gastrointestinal polyposis Sporaically occurring,
Also generalized , benign condition
uniform darkening of the Hypogeusia is the
skin, extensive alopecia, dominant initial
and onychodystrophy symptom
The polys that occur are Diarrhea and ectodermal
usually benign adenomas changes may follow
and may involve the 75% of cases have been
whole GI tract reported in Japan
125. Reihl’s Melanosis
Photosensitivity, Characteristic feature is
phototoxic dermatitis spotty light to dark brown
pigmentation
Begins with pruritis,
Most intense on the
erythema, and
forehead, malar regions,
pigmentation, gradually behind the ears, on the
spreads, then becomes sides of the neck, on other
stationary sun-exposed areas
Melanosis occurs mostly in Also circumscribed
women and develops over telangiectasia and
months temporary hyperemia
126. pathogenesis
Sun exposure following Has been reported in
perfume or cream patients with AIDS and
A photocontact Sjogren’s syndrome
dermatitis No good treatments
One report of a The cause of the sensitivity
positive patch test needs to be determeined
results to lemon oil, Hyperkeratosis and
geraniol, and pigmentation disappear
hydroxycitronellal spontaneously
127. Tar Melanosis
An occupational Small, dark, lichenoid,
dermatosis occurring follicular papules become
among tar handlers after profuse on the extremities,
years of exposure namely the forearms
Severe, widespread itching Bullae are sometimes
develops, followed by observed
reticular pigmentation, Represents a
telangiectases, and a shiny photosensitivity or
appearance of the skin phototoxicity induced by
There is a tendency for tar
hyperhidrosis
128. AD inheritance
Histologically- increase in
Familial melanin in the basal cell
Progressive patches
Characterized by layer, especially at the
tips of the rete ridges
of hyperpigmentation,
Hyperpigmentation
present at birth, Pigmented granules are
increasing in size and scattered diffusely
number with age throughout the
Hyperpigmentation epidermal layers
appears in the Differentiated from other
conjunctivae and the hyperpigmentations by
buccal mucosa over time presence of bizarre,
Eventually large portions sharply marginated
of skin and mucous patterns of
membranes become hyperpigmented skin
involved
129. Universal Acquired
Melanosis(Carbon Baby)
Ruiz-Maldonado EM showed a negroid
reported a case of a pattern in the
Mexican child, born melanosomes of the
white, who epidermal melanocytes
progressively became
black and keratinocytes
Developed Melanocytes were not
pigmentation of the increased in number
palms, soles, mucous
membranes
130. Zebralike Hyperpigmentation
Alimurung et al reported Hyperpigmenation was
an unusual pattern of linear and symmetrical,
hyperpigmentation in a involving the trunk and
black male infant with extremities
congenital defects (ASD, Increased number of
dextrocardia, auricualr melanocytes in the bands
of hyperpigmentation
atresia, deafness. And
Pigmentary anomaly fades
growth retardation)
with time spontaneously
May be a varient of
incontinentia pigmenti
131. Periorbital
Hyperpigmentation
1.) Familial periorbital 2.) Erythema
melanosis (AD) dyschromicum
Usually involves all four
perstans is a rare cause
eyelids, may extend to 3.) Familial dark circles
around the eyes,
involve the eyebrows frequently seen in
and cheeks individuals of
Mediterranean
ancestry
132. Metallic Discolorations
Pigmentation from deposition of fine metallic
particles in the skin
Metal may be carried to skin from the blood
stream or may permeate into it from surface
applications
133. Argyria
Local tx with a silver-
containing product may
produce argyria
Examples: conjunctivae,
Localized or widespread from eye drops; a wound
slate-colored pigmentation from sulfadiazine cream,
Due to silver in the skin earlobes from silver
Most noticeable in parts earings; and from silver
exposed to sunlight acupuncture needles
Can also occur from
Tissue silver may stimulate
melanocytes occupational exposure,
usually siversmiths
Initially discoloration is
In localized exposures,
hardly perceptible, having
only a faint blue color, but the appearance may be
a slate-gray color develops separated by many years
with time from the exposure
134. Histology
Systemic and localized argria have the same
features
Normal appearing skin under low power
Fine black granules in the basement zone of the
sweat glands,blood vessel walls, d-e junction,
and arrector pili muscles
Unstained biopsy section by darkfield
illumination demonstrates silver granules
outlining basement membrane of the epidermis
and the eccrine sweat glands
135. Bismuth
Rarely associated with deposition of metallic
particles in gums when used IM or orally
Also known as the bismuth line
Presence of stomatitis or peridontitis increased
the risk
Generalized cutaneous discoloration, in addition
to oral mucous membrane and conjunctival
pigmentation resembling argyria has occurred
but has not be reported in the last 50 years
136. Lead
Chronic lead poisoning can produce a “lead
hue” with lividity and pallor
Deposit of lead in the gums may occur and is
known as the “lead line”
137. Iron
In the past, soluble iron compounds were
used in the treatment of allergic contact
dermatitides
In eroded areas iron was sometimes
deposited in the skin, like a tattoo
Use of Monsel’s solution can produce similar
tattooing
138. Gold Chrysiasis may be induced by parenteral
administration of gold salts, usually for the
treatment of rheumatoid arthritis
More commonly recognized in white patients
A mauve, blue, or slate/gray pigmentation
develops initially on the eyelids, spreading to the
face, dorsal hands, and other areas
Severity is related to the total dose received, rare
< a dose of 20 mg/kg of elemental gold
Pigment is accentuated in light-exposed areas,
and sun protected areas do not demonstrate
gold
Localized chrysiasis has been induced by the Q-
switched ruby laser tx in a patient on parental
gold therapy
139. Mercury
Mercurial pigmentation in the skin is rare,
especially since the use of mercurials has
been strictly controlled
Most common presentation is subcutaneous
nodules that result from accidental
implantation of elemental mercury from a
thermometer into skin
140. Canthaxanthin
Orange-red pigment canthaxanthin is present in
many plants ( notably algae and mushrooms)
and in bacteria. Crustaceans, sea trout, and
feathers
When ingested for the purpose of simulating a
tan, its deposition in the panniculus imparts a
golden orange hue to the skin
Stools become brick red and the plasma orange,
and golden deposits appear in the retina
141. Dye Discoloration
Blue hands from accidental dyeing were
reported by Albert in 1976
A man’s hands were dyed as a result of
warming them in his armpits while wearing a
new blue flannel shirt
The dye was insoluble in water, but soluble in
sweat
142. Rubeosis
A rosy coloration of the face occurring in
young people with uncontrolled diabetes
mellitus
May be associated with xanthochromia to
produce a “peaches and cream” complexion
143. Vitiligo
Usually begins in childhood or young adulthood
50% of cases begin before age 20
Prevalence ranges from 0.5% to 1%
Females are disproportionately represented
among patients seeking medical care, it is not
known if it is actually more common in females
or simply because they more often bring it to
their physicians attention
144. Clinical Features
An acquired pigmentary anomaly of the skin
Manifested by depigmented white patches
surrounded by a normal or a hyperpigmented
border
There may be intermediate tan zones or lesions ,
halfway between the normal skin color and
depigmentaton-so-called trichrome vitiligo
Hairs in vitiliginous areas usually become white
also
Rarely, the patches may have a red,
inflammatory border
Patches are of various sizes and configurations
146. Vitiligo
Generalized is the most common
Involvement is symmetrical
Most commonly involving the face, upper chest,
dorsal aspects of the hands, axillae, and groin
Tendency for skin around orifices to be affected
(eyes,nose, mouth, ears, nipples, umbilicus,
penis, vulva, anus)
Lesions also favor areas of trauma (elbows and
knees)
147. Generalized Vitiligo
Involvement of
perineal and inguinal
skin
Note the distinct
borders
152. Segmental Vitiligo
Segmental vitiligo on the
arm , neck, and chest
Note areas of
spontaneous follicular
repigmentation
Left upper back with
partial spontaneous
repigmentation
154. Focal Vitiligo
May affect one
nondermatomal site
Or asymmetrically affect
a single dermatome
This form is treatment
resistant, has an earlier
onset, and is frequently
associated with other
autoimmune phenomena
It represents 5% of adult
vitiligo and 20% of
childood vitiligo
Trigeminal area is most
commonly affected
156. Vitiligo
Local loss of pigment may occur around nevi and
melanomas, the so-called halo phenomenon
Vitiligo-like leukoderma occurs in 1% of
melanoma patients
In those previously dx with melanoma, it
suggests metastatic disease
Paradoxically, patients who develop leukoderma
have a better prognosis than patients without it
Halo nevi are more common in patients with
vitiligo
Lesions are hypersensitive to UV light and burn
easily when exposed to the sun
157. Ocular abnormalities are
increased in patients with
vitiligo Vitiligo occurs in 13% of
Iritis and retinal pts with the autoimmune
pigmentary polyendocrinopathy-
abnormalities candidiasis-ectodermal
8% of pts with idiopathic dystrophy (APECED)
uveitis have vitiligo or Familial aggregation is
poliosis seen- up to 30% of
Most frequent vitiligo pts have an
associations are with affected relative-it is not
other “autoimmune” inherited as AD or AR
diseases((IDDM, trait, but has a
pernicious anemia, multifactorial genetic
Hashimoto’s thyroiditis, basis
Graves’ disease,
Addison’s disease, and
AA)
158. Childhood Vitiligo
Shows an increase in Poor response to PUVA
segmental therapy
presentation
More frequent
autoimmune or
endocrine anomalies
High incidence of
premature graying in
females
159. Vitiligo
Completely
depigmented oval
ivory white areas with
convex
hyperpigmentated
borders
160. Vitiligo
Vitiligo with
depigmentation of
the lips
162. Occupational Vitiligo
All the intermediates in
Thiols, phenolic the biosynthesis of
compounds, catechol, melanin are phenolic
derivatives of catechol, compounds, therefore
mercaptoamines, and postulated that
several quinones produce accumulation of these
depigmentation within the melanocyte
Seen in pts who work in may damage or kill the
rubber garments or wear cell.
gloves containing an Clinical pattern may be
antioxidant, monobenzyl similarto vitiligo, but
ether of hydroquinone lesions tend to be
concentrated in areas of
contact with the
incriminated substance
163. Occupational Vitiligo
Many phenolic compounds can produce
leukoderma, with or without antecedent
dermatitis
Examples: paratertiary sulfhydryls; monobenzyl
ether of hydroquinone
One source is phenolic antiseptic detergents
used in hospitals
Adhesives and glues containing them may be
found in shoes, wristbands, and adhesive tape,
and rubber products used in brassieres, girdles,
panties, or condoms may also be at fault
Self-sticking bindis (the cosmetic used by many
Indian woman on the forehead) has been
reported to induce leukoderma from the
adhesive material
164. Chemical Depigmentation
Chemical
depigmentation due
to a germicidal
detergent
Pts usually improve
with discontinuation
of the offending
agent
165. Pathogenesis
Three possible mechanisms have been
proposed as inducing vitiligo are
autoimmunity, neurohumoral factors, and
autocytotoxicity
No mechanism has been conclusively proven
166. Histology
There is complete
loss of melanocytes
Usually there is no
inflammatory
component
168. Treatment Fair-skinned pts may
manage their disease
Spontaneous with sunblock
repigmentation occurs in Sun protection is
no more than 15% to 25% mandatory in all pts with
of cases vitiligo because of the
Response is slow loss of protection from
PUVA may actually UV radiation in the
worsen the appearance depigmented skin
initially by pigmenting Topical steroids may be
surrounding skin useful on focal or limited
Cover-up lesions
strategies(topical dyes, Mid to super high-
make-up, self-tanning potency steroids are
creams) often required on trunk
and acral lesions with the
strength tapered as the
lesions respond
169. Systemic steroids lead to
temporary Treatment
repigmentation, this is
usually lost as the
steroidal agents are
tapered Trioxsalen, at a dose of up
PUVA therapy is the to 20-40mg, is taken a few
most common treatment hours before natural sun
for generalized vitiligo exposure
Topical application of 8- Risk of phototoxicity is
methoxypsoralen at a low,so this can be done at
concentration of 0.05% home
to 0.01%, followed by Ocular protection must be
UVA exposure worn from the ingestion of
Topical PUVA is used for the drug through the whole
focal or limited lesions tx day
Inadverrtent burns with
blistering are frequent
during tx
170. Most commonly, 8- Two-three tx’s/week are
methoxyporalen is used done
Initially tx is 20% of pts total
QOD(because of the repigmentation
delayed erythema of occurs;30% to 40% have
PUVA), increased to QD partial response
once dose is defined Acral, periorificial, and
1hr to 30 mins before segmental lesions
UVA exposure , 8- respond less well
methoxypsoralen Darker-skinned pts have
0.5mg/kg is ingested
a better response, since
Initial UVA dose is 1 or 2 they tolerate higher UV
J/cm squared, which is doses
gradually increased; 5- Repigmentation may
MOP has an aefficccacy
begin after 15-25
equal to that of 8-MOP
tx’s;significant
and less risk of
improvement may take
phototoxicity
100-300 tx’s
171. If there is no follicular
repigmentation after 3-6 Phenylalanine/UVA(PAU
months or approx 50 tx’s VA) is much less effective
PUVA should be abated than PUVA
CI to PUVA: UVB tx alone with 311-
photosensitivity, nm irradiation is
porphyria, liver disease, associated with a higher
SLE rate of acute
Surgical tx’s can be phototoxicity but may be
applied to limited lesions successful
if all other tx modalities UVA plus topical steroids
have been exhausted is superior to either agent
Epidermal grafting, alone, but is successful
autologous minigrafts, only 24-36% of the time
and transplantation of after 9 months
cultured and noncultured
melanocytes
172. If > 50% of the body surface area is affected by
vitiligo, the pt can consider depigmentation
This tx is permanent
Monobenzone 20% is applied BID for 3-6 months
to residual pigmented areas
Up to 10 months may be required
One in six pts will experience acute dermatitis,
usually confined to the still-pigmented areas
173. Vitiligo
Partial
repigmentation of
lesions of vitiligo on
the leg of a 14-year-
old child at the end of
the summer of sun
exposure
174. Vitiligo
Partial repigmenation
of vitiligo following
psorralen-ultraviolet
light (PUVA) therapy
175. Vitiligo
Permanent
repigmentation after
2 years of
photochemotherapy
(tripsoralen followed
by sunlight exposure)
176. Vogt-Koyanagi-Harada
Syndrome
Characterized by bilateral uveitis, symmetrical
vitiligo, alopecia, white scalp hair, eyelashes and
brows(poliosis, and dysacousia(diminished
hearing)
Occurs in thirties
Initial or meningoencephalitic phase occurs with
prodromata of fever, malaise, headache, nausea,
and vomiting
Also may have psychosis, paraplegia,
hemiparesis, aphagia, and nuchal rididity
Recovery is usually complete
177. VKHS
Second phase(ophthalmic-auditory stage) is
characterized by uveitis, dreased visual
acuity, photopobia, and decreased
hearing(50%)
The convalescent phase begins 3weeks to 3
months after it begins to improve
178. Alezzandrini’s Syndrome
Extremely rare syndrome characterized by a
unilateral degenerative retinits
This is followed several months later by
ipsilateral vitiligo on the face and ipsilateral
poliosis
Deafness may also be present
183. Pityriasis alba
Ill-defined
hypopigmented oval
patches are generally seen
on the face, upper arms,
neck, and shoulders of
affected persons
It can be differentiated
from vitiligo by its fine
adherent scale, partial
hypopigmentation, and
distribution
184. Pityriasis alba
White, slightly scaly
patches with
indistinct borders on
a child’s cheek
186. Albinism
A partial or complete congential absence of
pigment in the skin, hair, and eyes
(oculocutaneous albinism), or the eyes alone
(ocular albinism)
Cutaneous phenotype of the various forms is
broad, but the ocular phenotype is reasonably
constant in most forms
The ocular phenotype includes decreased visual
acuity, nystagmus, pale irides that
transilluminate, hypopigmented fundi,
hypoplastic foveae, and lack of stereopsis
187. Albinism
This pt has light skin,
yellowish white hair,
and a lack of
pigmentation in nevi
188. Oculocutaneous Albinism 1
OCA 1 results from mutations in the tyrosinase
gene
Affected pts are homozygous for the mutant
gene or are compound heterozygotes for
different mutations in the tyrosinase gene
AR
Two forms: 1) OCA 1A & OCA 1B
(indistinguishable at birth)
OCA 1 is most severe with complete absence of
tyrosinase activity and complete absence of
melanin in the skin and eyes
Visual acuity is decreased to 20/400
OVA 1B tyrosinase activity is reduced but not
absent. Pts may show increase in skin,hair, eye
color with age and can tan
189. OCA 1
OCA 1B was originally called “yellow mutant”
albinism
Temperature sensitive OCA (OCA 1-TS) results
from mutations in the tyrosinase gene that
produce an enzyme with limited activity < 35
degrees C and no activity below this temp. pts
have white hair, skin, andeyes at birth, at
puberty dark hair develops in cooler acral areas
190. Top:albinism with white
hair, pale skin, and
translucent irides
Bottom:ophthalmoscopi
c view of a pt with
albinism demonstrates a
pale fundus, poor
macular development,
and prominent choroidal
vasculature
191. Oculocutaneous Albinism 2
Prevalence of 1:15,000
Pts were named “tyrosinase-positive” albinos
AR and mutations occur in the P gene
P gene codes a membrane transport protein
that is present in the melanosome membrane
Cutaneous phenotype of OCA 2 pts is broad,
ranging from nearly normal pigmentation to
virtually no pigmentation
Pigmentation increases with age, and visual
acuity improves with age
Prader-Willi and Angelman syndromes are
caused by deletions in the P gene; 1% of pts with
these syndromes also have OCA 2
192. Oculocutaneous Albinism 3
AR-caused by mutations in the tyrosine-related
protein 1 (TRP-1), located on chromosome 9
OCA 3 has been described only in black pts and is
characterized by light brown hair, light brown
skin, blue/brown irrides, nystagmus, and
decreased visual activity
Brown rather than black melanin is formed
193. Ocular Albinism
There are multiple forms of ocular albinism
OA 1 may be present with lighter than expected
skin
It is X-linked
Female carriers have “mud-splattered” fundi
Macromelanosomes are found in the skin, so skin
bx may be a helpful tool
Many cases of AR ocular albinism have been
reclassified as OCA 1 or OCA 2
194. Syndromes Associated with
Albinism
Chediak-Higashsi Syndrome
Hermansky-Pudlak Syndrome
Griscelli Syndrome(partial albinism with
immunodeficiency)
Elejalde Syndrome
Cross-McKusick-Breen Syndrome
Cuna Moon Children
196. Selenium Deficiency
Selenium deficiency in the setting of total
parental nutrition can lead to pseudoalbinism
Skin and hair pigmentation return to normal
with supplementation
197. Waardenburg’s Syndrome
Four genotypic variants Pts have features of
exist: piebaldism, with white
Types 1 & 3 are caused by forelock,
mutations in the PAX gene hypopigmentation,
on chromosome 2 premature graying,
Type 2 is caused by synophrys, congenital
deafness, a broad nasal
mutations in the MITF root, and ocular changes
gene on chromosome 3, including heterochromia
and type 4 due to irides
mutations in the ENDRB
gene on chromosome 13 Apparently, melanoblasts
fail to reach the target sites
during embryogenesis
198. Rare, AD with variable
Piebaldism phenotype, presenting at
birth
White forelock, patchy
absence of skin
pigmenation
Depigmented lesions are
static and occur on the
anterior and posteroir
trunk, mid upper arm to
wrist, mid-thigh to mid-
calf, and shins
A characteristic feature is
the presence of
hyperpigmented macules
within the areas of lack of
pigmentation and on
normal skin
200. Piebaldism
Segmental white
patch on the neck
with a tuft of white
hair present from
birth
201. Piebaldism
White forelock and
patch of
unpigmented skin in
a young girl with
piebaldism
202. Piebladism
The white forelock arises from a triangular or
diamond-shaped midline white macule on the
frontal scalp or forehead
The medial portions of the eyebrows, and
eyelashes may be white
Histologically, melanocytes are completely
absent in the white macules
Etiology is a mutation in the c-kit protooncogene
Phenotypic differences seen in families is caused
by different locations of mutations in the gene
The white lesions may respond to surgical
excision
203. Idiopathic Guttate
Hypomelanosis symmetrica progressiva
AKA leukopathica
Very common aquired disorder affecting women
more frequently than men
Usually occurs after age 40
Lesions occur on the shins and forearms; are
small (6 or 8mm), rarely become very numerous (
a dozen or two at most), and never occur on the
face or trunk
Lesions are irregularly shaped and very sharply
defined, like depigmented ephelides, and are
only of cosmetic significance