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 aestavale 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 ´ 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.