They are a heterogenous group of inherited disorders of epidermal differentiation featuring excessive scaling, Ichthyosis vulgaris, X-linked recessive ichthyosis, Lamellar ichthyosis, Non-bullous ichthyosiform erythroderma, Bullous ichthyosiform erythroderma, Ichthyosis bullosa of Siemens, Harlequin ichthyosis

1. ICHTHYOSESfb.com/groups/dermatologycourseonline

2. ‫نس‬‫و‬‫ي‬ ‫سورة‬(‫ية‬‫آ‬‫ل‬‫ا‬58)
‫بفضل‬
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‫ا‬‫و‬‫ح‬

10. Ichthyosis

11. Ichthyosis
Derived from the word ichthys =fish

12. CONGENITAL ICHTHYOSIS
AQUIRED ICHTHYOSIS

13. CONGENITAL ICHTHYOSIS
are a heterogenous group of
inherited disorders of epidermal
differentiation featuring excessive
scaling
Here the homeostatic mechanism of cell
kinetics of differentiation is altered

14. Associated with excessive keratin buildup
due to a desquamation defect,
leading to retention of abnormally
formed scale
Usually apparent at birth
CONGENITAL ICHTHYOSIS

15. CONGENITAL ICHTHYOSES
1. Ichthyosis vulgaris
2. X-linked recessive ichthyosis
3. Lamellar ichthyosis
4. Non-bullous ichthyosiform erythroderma
5. Bullous ichthyosiform erythroderma
6. Ichthyosis bullosa of Siemens
7. Harlequin ichthyosis

17. Ichthyosis vulgaris

18. Ichthyosis Vulgaris

28. Ichthyosis vulgaris
Inherited disorder of keratinization
associated with ↓ conversion of profilaggrin to
filaggrin that is characterized by fine
scaling predominantly affecting the
extensor surfaces of the extremities with
characteristic sparing of the flexures

29. Ichthyosis vulgaris
Commonest form and also the
mildest

30. Ichthyosis vulgaris
AD
Decreased/absent profilaggrin
(keratohyalin granules)

31. Ichthyosis vulgaris
Presents few months after birth to early
childhood (3-12 months)
Mild itching
Xerosis
Fine, white scales on extensor surfaces
coarser on the lower extremities
Flexures spared
Hyperlinear palms/soles

32. Ichthyosis vulgaris
Tendency towards improvement in the
summer months
May improve in adulthood but may recur

33. Ichthyosis vulgaris
ASSOCIATIONS:
Atopic diathesis
keratosis pilaris

35. Ichthyosis vulgaris
HISTOLOGY:
retention hyperkeratosis
attenuated/absent granular layer

36. Ichthyosis vulgaris
ELECTRON MICROSCOPY:
scanty, fragmented keratohyaline
granules

37. Ichthyosis vulgaris
Acquired form of IV associated with
internal disease, malignancies
(Hodgkin's lymphoma ‘MC’, carcinoma of
bronchus, breast and cervix),
sarcoidosis, lupus and drugs

39. X-Linked Ichthyosis

40. X-linked
ichthyosis

41. Man with
preauricular
brownish scaling
typical of X-linked
ichthyosis

42. Dirty scales
in X-linked
ichthyosis

47. X-Linked Ichthyosis
XLR
Steroid sulfatase defect (STS gene)

48. X-Linked Ichthyosis
↓Steroid sulfatase → accumulation
of cholesterol sulphate in the
epidermal cells

49. X-Linked Ichthyosis
2nd most common type of ichthyoses

50. X-Linked Ichthyosis
Presents around infancy usually before 3
months of age with mild
erythroderma and large
translucent scales

51. X-Linked Ichthyosis
translucent scales → evolves into
adherent brown “DIRTY”
polygonal scales divided by wide
splits

52. X-Linked Ichthyosis
Sites: extremities, trunk, neck;
variable INVOLVEMENT of
flexures
Sparing of palms/soles

53. X-Linked Ichthyosis
Mother (with affected fetus):
low/absent estrogen in
urine/amniotic fluid → labor fails
to progress → children are commonly
born via C/S

54. X-Linked Ichthyosis
Other associations:
1. Comma-shaped corneal opacities
2. Cryptorchidism
3. Carcinoma of testis (↑risk)

55. X-Linked Ichthyosis
HISTOLOGY:
hyperkeratosis or parakeratosis
normal or slightly thickened granular
layer

56. X-Linked Ichthyosis
TESTS:
serum lipoprotein electrophoresis
(detects accumulation of cholesterol
sulfate)

57. Feature Ichthyosis
vulgaris
X-linked
Ichthyosis
Severity Mild Moderate
Affected sex Both sexes male
Onset 3-12 months before 3 months
Scales Finer Coarser and darker
Affected area
predominantly
extensor surfaces of
the extremities
extremities, trunk,
neck; flexures
variably involved
Spared area Flexures Palms, soles
Ass. w/ KP &
AD Present Absent
Eye involvement Absent Present
Cryptorchidism Absent Present

59. Lamellar Ichthyosis

61. Collodion baby

62. Collodion baby with translucent
membrane of the body

63. 4 lid ectropion due
to contracture of the
periocular skin

64. Lamellar Ichthyosis

66. Lamellar Ichthyosis

67. LI: Palmar Keratoderma

68. Inflexible fingers due to taut skin in a
young patient with LI

69. Nail dystrophy &
inflammation of the
nail folds

71. Body distribution of
lamellar ichthyosis

75. Lamellar Ichthyosis
AR
TGM1 gene mutation
(↓transglutaminase) or ABCA12
mutation (ATP binding cassette A12)

76. Lamellar Ichthyosis
TGM1 mutation → ↓transglutaminase
→ ↓cornified cell envelope
→ secondarily cause defects in the
intercellular lipid layers → defective
barrier function

77. Lamellar Ichthyosis
Presents AT BIRTH with collodion
membrane encasing the baby which
desquamates over the first 2-3 weeks

78. Lamellar Ichthyosis
collodion membrane with underlying
erythroderma → evolves to thick,
dark scales

79. COLLODION BABY

80. Collodion Baby
A number of forms of ichthyoses present
at birth with infant encased in a
glistening tight membrane of
adherent keratinocytes, which has
been compared to collodion

81. Collodion Baby
The membrane is then shed, leaving either normal
skin (lamellar exfoliation of newborn) or, more
often;
lamellar ichthyosis
Congenital Ichthyosiform
Erythroderma
some have trichothiodystrophy, X-linked recessive
ichthyosis, neutral lipid storage disease, or
Gaucher's disease.

82. Collodion Baby
COMPLICATIONS:
1. renal failure
2. dehydration
3. hypothermia
4. sepsis

83. COLLODION BABY

84. Lamellar Ichthyosis
SCALES:
usually thick large platelike dark (grayish-
brown), quadrangular
free at edges and adherent at CENTER
tend to be largest at extremities
separated by superficial fissuring
arranged in a mosaic pattern resembling
FISH SKIN

85. Lamellar Ichthyosis
Usually involves the entire skin with
prominent flexural involvement

86. Lamellar Ichthyosis
NAIL ABNORMALITIES
1. dystrophy
2. nail fold inflammation
3. subungual hyperkeratosis
4. longitudinal or transverse stippling
5. grow 2-3 times the normal rate.

87. Lamellar Ichthyosis
Associated ectropion, eclabium (dt.
tautness of facial skin), scarring alopecia,
hypohidrosis, contractures
heat intolerance (heat stroke)
Involvement of palm and soles: Ranges from
minimal hyper-linearity to severe PPK
hypernatremia

88. Lamellar Ichthyosis
no improvement with age

90. Lamellar Ichthyosis
HISTOLOGY:
MASSIVE orthokeratotic hyperkeratosis
normal or thickened granular layer
acanthosis with increased mitoses
perivascular lymphocytic infiltrate

92. Congenital Ichthyosiform
Erythroderma (CIE)

95. Mild erythema and
generalized whitish
desquamation

96. Congenital ichthyosiform erythroderma

98. Congenital Ichthyosiform
Erythroderma (CIE)
= Nonbullous CIE (n-CIE)

99. Congenital Ichthyosiform
Erythroderma (CIE)
AR (some AD)
TGM1 gene, few ALOXE3 or
ALOX12B gene mutation (encode
lipoxygenase 3 and 12R-lipoxygenase,
respectively)

100. Congenital Ichthyosiform
Erythroderma (CIE)
Presents at birth with collodion
membrane → generalized erythroderma
and persistent fine white scaling
flexures involved
PPK
no improvement with age

101. Congenital Ichthyosiform
Erythroderma (CIE)
associated scarring alopecia
ectropion
nail dystrophy (similar to LI but
milder)
heat intolerance
increased susceptibility to infections

103. Epidermolytic
Hyperkeratosis

104. Epidermolytic
Hyperkeratosis

112. EHK or Bullous CIE
AD
keratin 1 and keratin 10 (KRT1
and KRT10) gene mutations → Clumped
tonofilaments

113. Bullae form due to separation of
edematous keratinocytes; keratinocytes
fall apart (epidermolysis) due to lack
of normal cytoplasmic keratin filament
infrastructure that normally gives
keratinocytes their strength
EHK or Bullous CIE

114. EHK or Bullous CIE
Presents at birth with initial
erythroderma, bullae, denuded skin
→ evolves into yellowish brown
verrucous hyperkeratotic plaques
most prominent over joints also scalp,
neck and infra-gluteal folds, flexural
involvement, PPK

115. EHK or Bullous CIE
Distinct foul odor due to secondary
bacterial colonization of thickened skin

116. EHK or Bullous CIE
Linear epidermolytic hyperkeratosis is
associated with genetic mosaicism with
absence of blistering

117. EHK: parakeratosis, hypergranulosis & vacuolar
degeneration of the granular& spinous layer

121. EHK or Bullous CIE
HISTOLOGY:
massive orthokeratotic
hyperkeratosis
Hypergranulosis
Granular and vacuolar degeneration
of spinous and granular cell layers

122. EHK or Bullous CIE
COMPLICATIONS:
1. recurrent infection
2. sepsis
3. dehydration
4. electrolyte imbalances due to
compromised skin barrier
5. failure to thrive

124. Ichthyosis Bullosa
of Siemens (IBS)

125. Lower leg of a 12 month infant with
Ichthyosis bullosa of Siemens

127. bullae with neighbouring skin
showing mauserung appearance

130. Ichthyosis Bullosa of Siemens
A variant of BCIE

131. Ichthyosis Bullosa of Siemens
AD
keratin 2e (K2) gene defect

132. Ichthyosis Bullosa of Siemens
Presents at birth with mild
erythroderma and mild superficial
blistering → evolves into brown
hyperkeratotic plaques over joints,
flexures, abdomen, dorsal hands
and feet
spares palms/soles

133. Ichthyosis Bullosa of Siemens
A distinctive characteristic of IBS which
is not present in other forms of
ichthyosis is called the "Mauserung
phenomenon" (Mauserung is German
for "moulting" and was first described by
H.W.Siemens). These are small patches
of bare, apparently normal peeled skin

135. Ichthyosis Bullosa of Siemens
HISTOLOGY:
Epidermolytic hyperkeratosis

137. Harlequin Ichthyosis

139. Harlequin
Ichthyosis

142. HI after shedding of the armour of
scales covering the body at birth
(note the malformed fingers & ear)

147. Harlequin Ichthyosis
AR
ABCA12 mutation
(ATP binding cassette A12)

148. Harlequin Ichthyosis
Presents at birth with encasement of
hard, thickened armor-like plates of
restrictive stratum corneum covering the
entire surface with deep fissures
Severe ectropion, eclabium, ears
maybe rudimentary or absent,
mitten-like hands and feet

149. Harlequin Ichthyosis
Stillborn or death within few days of
birth due to respiratory difficulties
and sepsis
Oral retinoid may prolong survival

151. Algorithm for the diagnosis
of congenital ichthyosis

153. TREATMENT OF
ICHTHYOSES

154. I. GENERAL CARE
II. LOCAL CARE
III. SYSTEMIC CARE

155. GENERAL CARE

156. GENERAL CARE
1. Avoidance of strong drying soaps &
use creamy soaps
2. Avoidance of unnecessary exposure to
cold or hot climates potential for
heat intolerance and heat stroke
3. Frequent showering (w/ immediate
application of emollients)
4. Manual debridement of the collodion
membrane is not recommended

157. GENERAL CARE
5. X-linked Ichthyosis: consultation with
ophthalmologist (for corneal opacity)
and surgeon (for cryptorchidism) is
needed

158. LOCAL CARE

159. LOCAL CARE
1. Emollients: Maintaining hydration–creams and
ointments (Vaseline, liquid paraffin, glycerin, olive
oil). These agents should be applied immediately
after washing with water, without allowing skin to
dry
2. Humectants: (10-30%) Topical urea, 40% to
60% solution of propylene glycol in water (usually
under an occlusive suits)–Drawbacks: renal failure
and cardiac toxicity when given systemically.
3. Keratolytics: Salicylic acid and lactic acid; here
should be mentioned that salicylic acid products are
best reserved for localized resistant thicker areas

160. LOCAL CARE
4. Topical retinoids: (retinoic acids,
tazarotene)
5. Calcipotriol
6. Topical Antibiotics: applied to fissures
7. Antiseptics: can be used topically to control
odor (as well as antimicrobials)

162. SYSTEMIC CARE

163. SYSTEMIC CARE
1. Systemic retinoids:
(Isotretinoin or Acitretin) reserved for severe
disease that is refractory to conventional therapy
Lamellae Ichthyosis and Nonbullous congenital
ichthyosiform erythroderma: Systemic retinoids
may be helpful, but long-term use problematic
Epidermolytic Hyperkeratosis: Systemic retinoids
help with keratoses but may increase tendency to
blister
2.Oral antibiotics: for infections

164. Effects of systemic retinoid
therapy in lamellar
ichthyosis. Before (a) and
after (b) one month of
acitretin 1 mg/kg/day

166. Gene therapy novel futuristic
therapeutic approach to ichthyosis

168. SYNDROMES ASSOCIATED
WITH ICHTHYOSIS

169. ICHTHYOSIFORM SYNDROMES
1. Netherton’s syndrome
2. Sjogren Larson Syndrome
3. Refsum’s disease
4. Neutral lipid storage disease
5. IBIDS syndrome
6. KID syndrome
7. CHILD syndrome

170. Netherton syndrome
1. Ichthyosiform skin changes
2. Trichorrhexis invaginata (bamboo hair)
3. Atopic dermatitis

171. Refsum Syndrome
1. Atypical retinitis pigmentosa
2. Peripheral neuropathy
3. Cerebellar ataxia
4. Nerve deafness
5. ECG changes

172. KID Syndrome
1. Keratitis
2. Ichthyosis
3. Deafness

173. CHILD Syndrome
1. Congenital hemidysplasia
2. Ichthyosiform erythroderma
3. Limb defects

175. References
Presentation by Dr. Ibrahim Md. Sharaf
HMO, Dept. of Skin & VD
Dermatology Illustrated Study Guide &
Comprehensive Board Review 2012
pathologyoutlines.com
Google images
firstskinfoundation.org

176. youThank