Dermatologic manifestations of ataxia-telangiectasia syndrome

作者：Greenberger Shoshana^*; Berkun Yackov; Ben Zeev Bruria; Levi Yonit Banet; Barziliai Aviv; Nissenkorn Andreea

来源：Journal of the American Academy of Dermatology, 2013, 68(6): 932-936.

DOI：10.1016/j.jaad.2012.12.950

• ataxia-telangiectasia
• ATM mutation
• papulosquamous rash
• pigmentation anomalies

Background: Previous reports on the cutaneous manifestations of ataxia-telangiectasia (A-T) have relied on data from small series, in patients not genetically tested for A-T.
Objective: The aim of our study was to characterize the dermatologic manifestations in patients with A-T followed up at the national A-T clinic in Israel.
Methods: This retrospective cross-sectional study included 32 patients followed up at a multidisciplinary A-T clinic from 2010 to 2012. Complete skin examination was done by a single dermatologist. Information about mutations and neurologic status was extracted from the patients' charts. Relevant demographic, clinical, and laboratory characteristics of all patients were collected and summarized.
Results: Of the 32 patients, 97% had ocular telangiectasia, the hallmark of the disease. Telangiectasia on other body parts was less frequent. Pigmentary anomalies included cafe-au-lait macules (84%), hypopigmented macules (44%), and melanocytic nevi (37%). A facial papulosquamous rash was found in 41% of cases. Other manifestations included hypertrichosis and birdlike facies. We did not observe premature hair graying or poliosis. No genotype-phenotype correlation was found in terms of skin manifestations.
Limitations: There was a modest sample size, because of the rarity of the disease.
Conclusion: Recognition of the ocular and dermatologic manifestations of A-T can facilitate early diagnosis in a child with neurologic deterioration.

• 出版日期2013-6