Life-Threatening Stridor in Xeroderma Pigmentosum Type A

Life-Threatening Stridor in Xeroderma Pigmentosum Type A

Vocal fold dystonia and total vocal fold paralysis in Xeroderma Pigmentosum Type-A (XPA) are rare clinical conditions that have been recently described in a few case reports from the Japanese literature. We report here an 11-year-old boy with XPA and seizures and a history of frequent emergency room (ER) visits to different local hospitals for recurrent inspiratory stridor that was treated as “...

Atypical Fibroxanthoma In a Patient with Xeroderma Pigmentosum

 SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...

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...

Xeroderma pigmentosum.

Seven cases of XP seen during a relatively short period of time, possibly indicate a high frequency of this gene in this part of the country. The gene frequency in the general population has been reported to be 1 in 200 million and the frequency of the disorder, 4 in 1 million(3). Countries like Libya, Egypt, Israel and Japan, with a high degree of consanguinity, have a high incidence of this d...