Xeroderma pigmentosa--a disfiguring disease.

Syndrome-causing mutations in Werner syndrome.

Complete loss of function in the WRN: RecQ3 DNA/RNA helicase gene causes Werner Syndrome (WS). WS patients with genetic instability manifest an early onset of age-related diseases including diabetes mellitus (DM), osteoporosis, atherosclerosis, and malignancy as well as early death. In 1,420 patients, WS was reported to be associated with chromosomal abnormality syndrome and other genetic disea...

Eyelid squamous cell carcinoma in xeroderma pigmentosa: a therapeutic challenge.

A 10-year-old male, Muslim child diagnosed with xeroderma pigmentosa with a right upper lid malignancy presented as a therapeutic challenge because of the non-availability of normal facial skin for grafting and lid reconstruction. The lid lesion had been present for the last one month. The disease had been present for past five years with polymorphous, erythematous lesions all over the body. On...

A Case of Xerodermia Pigmentosa in a Sinhalese

Xeroderma pigmentosum: a review and case series.

Xeroderma pigmentosa (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from the defect in DNA repair. The management of complications of XP, especially orofacial tumours entails an enormous surgical challenge to the clinicians. We present five cases of XP.

Oculocutaneous manifestations in xeroderma pigmentosa.

Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiarity (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), ...