Author(s): Rai R, Ramachandran B, Sundaram VS, Rajendren G, Srinivas CR
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Abstract Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy. A seven-year-old boy presented with woolly hair and hyperkeratotic lesions on the palms and soles since birth. His cardiac status was evaluated and echocardiography revealed early cardiomyopathy. Scalp biopsy revealed hair shaft in an angulated outline suggestive of woolly hair. So the diagnosis of Naxos disease was made. Since he was asymptomatic no treatment was offered but a regular follow-up of the patient and treatment of emergent symptoms should prevent sudden death.
This article was published in Indian J Dermatol Venereol Leprol
and referenced in Pediatrics & Therapeutics