Are lesions of the palms and soles common in ataxia telangiectasia (a rare, inherited disease characterized by progressive difficulty with coordinating movement (ataxia) and the presence of spider-like dilated blood vessels in the skin and eyes (telangiectasia))?

From the Guidelines

Lesions of the palms and soles are not common in ataxia telangiectasia. The characteristic skin manifestations of ataxia telangiectasia (AT) primarily include telangiectasias, which typically appear on the conjunctivae of the eyes, ears, and exposed areas of the face and neck, as noted in general medical knowledge. While the study 1 discusses radiation-induced skin injury and mentions that patients homozygous for ataxia telangiectasia are known to be more sensitive to radiation, it does not specifically address the commonality of lesions on the palms and soles in AT patients. Key points to consider in AT include:

• The primary clinical features involve progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, increased cancer susceptibility, and characteristic telangiectasias 1.
• Skin manifestations in AT are related to the underlying genetic defect in the ATM gene, affecting DNA repair mechanisms and cellular responses to oxidative stress.
• Patients with AT may develop various dermatological issues, but specific palmar and plantar lesions are not recognized as typical manifestations of this condition. Given the information available and prioritizing morbidity, mortality, and quality of life, the presence of lesions on the palms and soles is not a common feature of ataxia telangiectasia.

From the Research

Lesions of the Palms and Soles in Ataxia Telangiectasia

• There is limited information available on lesions of the palms and soles specifically in ataxia telangiectasia.
• Studies have reported various cutaneous findings in patients with ataxia telangiectasia, including telangiectasia, acanthosis nigricans, vitiligo, impetigo, and café au lait-like lesions 2.
• Cutaneous granulomatous lesions have been reported in patients with ataxia telangiectasia, but these are not specifically described as occurring on the palms and soles 3, 4.
• The available evidence does not provide a clear answer to the question of whether lesions of the palms and soles are common in ataxia telangiectasia, as the studies focus on other aspects of the disease or do not specifically mention lesions on the palms and soles 5, 6.