Dermatological Manifestations of Inherited Cancer Syndromes in Children

A. Karalis; M. Tischkowitz; G.W.M. Millington

Disclosures

The British Journal of Dermatology. 2011;164(2):245-256. 

In This Article

Nucleotide Excision Repair Defects

Xeroderma Pigmentosum

Xeroderma pigmentosum (XP) is characterized by exaggerated freckling and severe sunburn during the first 2 years of life and a high risk of skin cancer.[15] Sun avoidance and UVR protection are essential.[15] However, nearly half of patients with XP tan normally, without sunburn.[16] It is caused by mutations in a range of genes involved in DNA excision repair.[15,16] In XP, the risk of basal cell carcinoma (BCC), squamous cell carcinoma (SCC) or melanoma is 1000-fold increased compared with normals.[16] BCCs and SCCs occur within the first decade, on average by age 8 years.[16] Other skin changes include patches of dry skin, actinic keratoses and poikiloderma.[15,17] Ocular epitheliomas, SCCs and melanomas may occur, as well as conjunctival growths that may be limited to the bulbar conjunctiva or extend on to the cornea.[15] Rarely, other solid and central nervous system (CNS) tumours occur in XP.[16,17] Progressive neurological manifestations affect up to 30% of patients, occurring later than cutaneous findings.[16] When other developmental and neurological abnormalities including microcephaly, severe mental and growth retardation and immature sexual development are present, the more specific diagnosis of De Sanctis–Cacchione syndrome can be made.[18]

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