Xeroderma pigmentosum / dental course

XERODERMAXERODERMA
PIGMENTOSUM:-PIGMENTOSUM:-VARIABLEVARIABLE
EXPRESSIONSEXPRESSIONS IN THREEIN THREE
SIBLINGS OF SAME FAMILYSIBLINGS OF SAME FAMILY
INDIAN DENTALINDIAN DENTAL
ACADEMYACADEMY
Leader in continuing Dental EducationLeader in continuing Dental Education
www.indiandentalacademy.comwww.indiandentalacademy.com

INTRODUCTIONINTRODUCTION
► Xeroderma pigmentosum (XP) was first describedXeroderma pigmentosum (XP) was first described
in 1874 by Hebra and Kaposi.in 1874 by Hebra and Kaposi.
► In 1882, Kaposi coined the term xerodermaIn 1882, Kaposi coined the term xeroderma
pigmentosum for the condition, referring to itspigmentosum for the condition, referring to its
characteristic dry, pigmented skin.characteristic dry, pigmented skin.
► XP is a rare disorder transmitted in an autosomalXP is a rare disorder transmitted in an autosomal
recessive manner. It is characterized byrecessive manner. It is characterized by
photosensitivity, pigmentary changes, prematurephotosensitivity, pigmentary changes, premature
skin aging, and malignant tumor development.skin aging, and malignant tumor development.
► These manifestations are due to a cellularThese manifestations are due to a cellular
hypersensitivity to ultraviolet (UV) radiationhypersensitivity to ultraviolet (UV) radiation
resulting from a defect in DNA repair.resulting from a defect in DNA repair.
www.indiandentalacademy.com

The disease typically passes throughThe disease typically passes through
3 stages.3 stages.
► The skin is healthy at birth. Typically, the first stage makes itsThe skin is healthy at birth. Typically, the first stage makes its
appearance after the age of 6 months. This stage isappearance after the age of 6 months. This stage is
characterized by diffuse erythema, scaling, and frecklelike areascharacterized by diffuse erythema, scaling, and frecklelike areas
of increased pigmentation . These findings, as would be expectedof increased pigmentation . These findings, as would be expected
from the pathophysiologic basis for the disease, are seen overfrom the pathophysiologic basis for the disease, are seen over
light-exposed areas, appearing initially on the face. Withlight-exposed areas, appearing initially on the face. With
progression of the disease, the skin changes appear on the lowerprogression of the disease, the skin changes appear on the lower
legs, the neck, and even the trunk in extreme cases. While theselegs, the neck, and even the trunk in extreme cases. While these
features tend to diminish during the winter months withfeatures tend to diminish during the winter months with
decreased sun exposure, as time passes, these findings becomedecreased sun exposure, as time passes, these findings become
permanent.permanent. www.indiandentalacademy.com

►The second stage is characterized by poikiloderma.The second stage is characterized by poikiloderma.
Poikiloderma consists of skin atrophy, telangiectasias,Poikiloderma consists of skin atrophy, telangiectasias,
and mottled hyperpigmentation and hypopigmentation,and mottled hyperpigmentation and hypopigmentation,
giving rise to an appearance similar to that of chronicgiving rise to an appearance similar to that of chronic
radiodermatitis. Although telangiectasias also occur inradiodermatitis. Although telangiectasias also occur in
the sun-exposed areas, they have been reported to arisethe sun-exposed areas, they have been reported to arise
in unexposed skin and even buccal mucosa.in unexposed skin and even buccal mucosa.

►The third stage is heralded by the appearance ofThe third stage is heralded by the appearance of
numerous malignancies, including squamous cellnumerous malignancies, including squamous cell
carcinomas, malignant melanoma, basal cell carcinoma,carcinomas, malignant melanoma, basal cell carcinoma,
and fibrosarcoma. These malignancies may occur asand fibrosarcoma. These malignancies may occur as
early as age 4-5 years and are more prevalent in sun-early as age 4-5 years and are more prevalent in sun-
exposed areas.exposed areas.

►CASE REPORTCASE REPORT

►HISTOPATHOLOGICAL EXAMINATIONHISTOPATHOLOGICAL EXAMINATION

►DIFFERENTIAL DIAGNOSISDIFFERENTIAL DIAGNOSIS

BLOCH SULZBERGERBLOCH SULZBERGER
SYNDROMESYNDROME

NEAGELI SYNDROMENEAGELI SYNDROME
►AUTOSOMAL DOMINANTAUTOSOMAL DOMINANT
►RETICULATE GRAY TO BROWNRETICULATE GRAY TO BROWN
PIGMENTATION.PIGMENTATION.
►HYPOHYDROSISHYPOHYDROSIS
►YELLOWISH DISCOLORATION OFYELLOWISH DISCOLORATION OF
TOOTH ENAMEL.TOOTH ENAMEL.

CARNEY SYNDROMECARNEY SYNDROME
►SPOTTY PIGMENTATION, MYXOMA,SPOTTY PIGMENTATION, MYXOMA,
ENDOCRINE OVERACTIVITYENDOCRINE OVERACTIVITY
SYNDROME.SYNDROME.
►ALSO CALLED AS NAME SYNDROMEALSO CALLED AS NAME SYNDROME
► LAMB SYNDROMELAMB SYNDROME

MULTIPLE LENTIGINESMULTIPLE LENTIGINES
SYNDROMESYNDROME
►ALSO CALLED AS LEOPARD SYNDROMEALSO CALLED AS LEOPARD SYNDROME

TOURAINE CENTROFACIALTOURAINE CENTROFACIAL
LENTIGINOSISLENTIGINOSIS
►PIGMENTED MACULES ON MALARPIGMENTED MACULES ON MALAR
AREAS AND NOSE ( BUTTERFLYAREAS AND NOSE ( BUTTERFLY
DISTRIBUTION)DISTRIBUTION)
►LESIONS APPEAR AT INFANCY ANDLESIONS APPEAR AT INFANCY AND
REGRESS AFTER FIRST DECADE.REGRESS AFTER FIRST DECADE.
►MUCOSA SPAREDMUCOSA SPARED
►AUTOSOMAL DOMINANT ORAUTOSOMAL DOMINANT OR
RECESSIVE.RECESSIVE.

PEUTZ JEGHERS SYNDROMEPEUTZ JEGHERS SYNDROME

OTHERSOTHERS
►TUBEROUS SCLEROSISTUBEROUS SCLEROSIS
►NEUROFIBROMATOSISNEUROFIBROMATOSIS
►ALBRIGHT’S SYNDROMEALBRIGHT’S SYNDROME

►FINAL DIAGNOSISFINAL DIAGNOSIS

►TREATMENTTREATMENT

►DISCUSSIONDISCUSSION

PATHOPHYSIOLOGYPATHOPHYSIOLOGY
► The basic defect in XP is in nucleotide excisionThe basic defect in XP is in nucleotide excision
repair (NER), leading to deficient repair of DNArepair (NER), leading to deficient repair of DNA
damaged by UV radiation. This extensively studieddamaged by UV radiation. This extensively studied
process consists of the removal and theprocess consists of the removal and the
replacement of damaged DNA with new DNA.replacement of damaged DNA with new DNA.

►FREQUENCYFREQUENCY

►MORTALITYMORTALITY

►RACERACE
►SEXSEX
►AGEAGE

►HISTORYHISTORY

►PHYSICALPHYSICAL

OCULAR PROBLEMSOCULAR PROBLEMS
► CONJUCTIVITISCONJUCTIVITIS
► PHOTOPHOBIAPHOTOPHOBIA
► EYELID SOLAR LENTIGINESEYELID SOLAR LENTIGINES
► ECTROPIONECTROPION
► SYMBLIPHERON WITH ULCERATIONSSYMBLIPHERON WITH ULCERATIONS
► REPEATED INFECTIONS AND SCARRINGREPEATED INFECTIONS AND SCARRING
► VASCULAR PTERYGIAVASCULAR PTERYGIA
► FIBROVASCULAR PANNUS OF CORNEAFIBROVASCULAR PANNUS OF CORNEA
► EPITHELIOMAS OF THE LIDSEPITHELIOMAS OF THE LIDS

►NEUROLOGIC PROBLEMSNEUROLOGIC PROBLEMS
►De Sanctis-Cacchione syndromeDe Sanctis-Cacchione syndrome

►LAB STUDIESLAB STUDIES

► No consistent routine laboratory abnormalities areNo consistent routine laboratory abnormalities are
present in XP. The diagnosis of XP can bepresent in XP. The diagnosis of XP can be
established with studies performed in specializedestablished with studies performed in specialized
laboratories. These studies include cellularlaboratories. These studies include cellular
hypersensitivity to UV radiation and chromosomalhypersensitivity to UV radiation and chromosomal
breakage studies, complementation studies, andbreakage studies, complementation studies, and
gene sequencing to identify the specific genegene sequencing to identify the specific gene
complementation group.complementation group.

►Antenatal diagnosis is possible byAntenatal diagnosis is possible by
amniocentesis or chorionic villi sampling.amniocentesis or chorionic villi sampling.
Unscheduled DNA synthesis is the classicUnscheduled DNA synthesis is the classic
method for diagnosis. A faster technique ismethod for diagnosis. A faster technique is
the alkaline comet assay (single-cell gelthe alkaline comet assay (single-cell gel
electrophoresis assay).electrophoresis assay).

Histologic FindingsHistologic Findings
► The histologic findings of the first stage of theThe histologic findings of the first stage of the
disease include hyperkeratosis and increaseddisease include hyperkeratosis and increased
melanin pigment (this corresponds to the clinicalmelanin pigment (this corresponds to the clinical
freckling) in the basal cell layer (not necessarilyfreckling) in the basal cell layer (not necessarily
accompanied by an increase in the numbers ofaccompanied by an increase in the numbers of
melanocytes).melanocytes).

► In the second stage, atrophy ensues, and theIn the second stage, atrophy ensues, and the
hyperkeratosis and the hyperpigmentation arehyperkeratosis and the hyperpigmentation are
more marked. Telangiectasia may be prominent.more marked. Telangiectasia may be prominent.
These findings correspond to poikiloderma.These findings correspond to poikiloderma.
► The histologic appearances of the variousThe histologic appearances of the various
tumors that complicate XP are seen in the thirdtumors that complicate XP are seen in the third
stage of XP.stage of XP.

MEDICAL CAREMEDICAL CARE
► The 2 basic types of sunscreens are physical andThe 2 basic types of sunscreens are physical and
chemical.chemical.
► Physical sunscreens scatter and reflect radiation.Physical sunscreens scatter and reflect radiation.
► Chemical sunscreens absorb UV radiation. Para-aminoChemical sunscreens absorb UV radiation. Para-amino
benzoic acid (PABA) was the first agent developed, but itsbenzoic acid (PABA) was the first agent developed, but its
potential to cause allergic reactions has limited its use.potential to cause allergic reactions has limited its use.
Some agents, such as benzophenones, mainly block UV-A,Some agents, such as benzophenones, mainly block UV-A,
but they are weak UV-B photoprotectors. Avobenzonebut they are weak UV-B photoprotectors. Avobenzone
(Parsol 1789) has recently been introduced commercially.(Parsol 1789) has recently been introduced commercially.

►Chemical therapy with 5-fluorouracil may beChemical therapy with 5-fluorouracil may be
usefuluseful
►Oral retinoids have been shown to decreaseOral retinoids have been shown to decrease
the incidence of skin cancer in patients withthe incidence of skin cancer in patients with
XP.XP.

► A new approach to photoprotection is to repairA new approach to photoprotection is to repair
DNA damage after UV exposure. This can beDNA damage after UV exposure. This can be
accomplished by delivery of a DNA repairaccomplished by delivery of a DNA repair
enzyme into the skin by means of speciallyenzyme into the skin by means of specially
engineered liposomes.engineered liposomes.

SURGICAL CARESURGICAL CARE
►EXCISION OF DEVELOPINGEXCISION OF DEVELOPING
MALIGNANCIES.MALIGNANCIES.

CONCLUSIONCONCLUSION
► Patients should receive follow-up care every 3 months.Patients should receive follow-up care every 3 months.
► Follow-up care should be geared to educate the patientFollow-up care should be geared to educate the patient
and the patient's parents about effective sun protection andand the patient's parents about effective sun protection and
early recognition of skin cancer.early recognition of skin cancer.
► Fewer than 40% of patients survive beyond age 20 years.Fewer than 40% of patients survive beyond age 20 years.
Individuals with milder disease may survive beyond middleIndividuals with milder disease may survive beyond middle
age.age.
► TheThe Xeroderma Pigmentosum SocietyXeroderma Pigmentosum Society provides informationprovides information
for individuals who are affected, their families, and thefor individuals who are affected, their families, and the
public. It also provides peer support for patients and theirpublic. It also provides peer support for patients and their
families.families.

REFERENCESREFERENCES
► XEROERMA PIGMENTOSUM ; MARCELLO G. HORENSTEIN,XEROERMA PIGMENTOSUM ; MARCELLO G. HORENSTEIN,
20052005
► XERODERMA PIGMENTOSUM, WIKIPEDIA.XERODERMA PIGMENTOSUM, WIKIPEDIA.
► MALIGNANCIES IN XERODERMA PIGMENTOSUM;INDIANMALIGNANCIES IN XERODERMA PIGMENTOSUM;INDIAN
JOURNAL OF MEDICAL & PAEDIATRIC ONCOLOGY Vol. 26JOURNAL OF MEDICAL & PAEDIATRIC ONCOLOGY Vol. 26
No.1, 2005No.1, 2005
► KNAEMER KH, XP, CUTANEOUS, OCULAR ANDKNAEMER KH, XP, CUTANEOUS, OCULAR AND
NEUROLOGIC ABNORMALITIES, ARCH DERMATOLNEUROLOGIC ABNORMALITIES, ARCH DERMATOL
1987;123:241-501987;123:241-50
► TUBEROUS SCLEROSIS; ARTICLE BY G. SAH 2007TUBEROUS SCLEROSIS; ARTICLE BY G. SAH 2007
► TEXTBOOK OF DERMATOLOGY; GENETIC PIGMENTARYTEXTBOOK OF DERMATOLOGY; GENETIC PIGMENTARY
DISORDERS.DISORDERS.
► ORAL MEDICINE; BURKITTSORAL MEDICINE; BURKITTS

TreatmentTreatment
Surgical excisionSurgical excision
THANK YOU

Xeroderma pigmentosum / dental course

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