Common and uncommon cutaneous findings in patients with ataxia-telangiectasia.
This series describes some common and uncommon cutaneous findings in twelve patients with ataxia-telangiectasia (A-T). All patients had the characteristic telangiectasia as described previously. However, the telangiectases did not conform to a classic photodistribution . Our series did include one patient with a pathologic reaction to light-simulating hydroa aestivale or vacciniforme . In addition, there were three patients with acanthosis nigricans in two unrelated families. Vitiligo, impetigo, recurrent herpetic gingivostomatitis, hirsutism, lipoatrophy, gray hair, progeroid changes and hyper- and hypopigmented macules were noted in our patients. Many of our patients had one or more caf'e au lait like-lesions in a dermatomal distribution. In addition, several of the family members showed one or more café au lait-like lesions, suggesting the possibility that this finding may represent a phenotypic expression in the skin of carriers of this cancer-prone syndrome.
D000052:Acanthosis Nigricans / Q000209:etiology; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000473:pathology; D002648:Child; D003229:Conjunctival Diseases / Q000209:etiology; D006200:Hair Color; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000209:etiology; D008297:Male; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000209:etiology; D010859:Pigmentation Disorders / Q000209:etiology / Q000473:pathology; D012871:Skin Diseases / Q000209:etiology* / Q000235:genetics; D012874:Skin Diseases, Infectious / Q000209:etiology
D007070:Immunoglobulin A