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Carvajal-Huerta syndrome
Carvajal-Huerta syndrome
Clinical features The Carvajal-Huerta syndrome is an autosomal recessively inherited disease with palmoplantar keratoderma, wooly hair, and dilated cardiomyopathy.1,2 The patients are born with wooly hair (Fig. 3.115). Palmoplantar
99 Palmoplantar keratoderma
A
the ultrastructural level, loosening of intercellular connections, disruption of desmosome-keratin intermediate filament interactions, and rudimentary desmosomal structures can be demonstrated.2
Fig. 3.115 Carvajal-Huerta syndrome: patients are born with wooly hair.