Dermatologic manifestations of ataxia-telangiectasia syndrome

Shoshana Greenberger, Yackov Berkun, Bruria Ben-Zeev, Yonit Banet Levi, Aviv Barziliai, Andreea Nissenkorn

Research output: Contribution to journalArticlepeer-review


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 café-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.

Original languageEnglish
Pages (from-to)932-936
Number of pages5
JournalJournal of the American Academy of Dermatology
Issue number6
StatePublished - Jun 2013
Externally publishedYes


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


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