Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum

Xeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature

Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorour...

Clinical features of xeroderma pigmentosum.

Background Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. Albert Neisser was the first to report neurological abnormalities associated with XP in 1883. XP is an autosomal recessive disease with defective nucleotide excision repair (NER). It is characterized by easily recognizable clinical hallmarks (Table 1). These manifestations are due to cellular hypersensitivity...

Xeroderma pigmentosum.

Xeroderma pigmentosum.

OBJECTIVE To describe the features of Xeroderma pigmentosum observed in the stage 3 of the disease. STUDY DESIGN Case series. PLACE AND DURATION OF STUDY Mayo Hospital Lahore, from December 2001 to September 2008. METHODOLOGY All patients diagnosed with Xeroderma pigmentosum stage 3 in the outpatient department of the study centre, were included. The age at first presentation, tumour site...

Pilomatricoma in a case of familial xeroderma pigmentosum.

The patient was one of the three affected siblings, born of a second degree consanguineous marriage in a family with four children. While the eldest sister was unaffected, the patient’s second sister and a younger brother were similarly afflicted by the disease. Subsequently on a four-year follow-up, the patient developed multiple cutaneous tumors on the face simultaneously, which included a co...