Article
Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.
The Journal of the Association of Physicians of India - 1 Mar 2026
Cadiravane Sharini, Ananthakrishnan Vasudharini, Sethumadhavan Shanmathi, Damodaran Jeyashree, Mohanan Saritha, Chockalingam Sathish Kumar, Thanasekar Vijhayapriya, Banushree C S, Carounanidhy Udayashankar
Abstract excerpt
Woolly hair with palmoplantar keratoderma (WH-PPK) is a group of four autosomal recessive syndromes. Type 4 WH-PPK is usually associated with KANK2 mutation and does not have cardiac morbidity among its features. Here we report a 25-year-old woman with woolly hair, palmoplantar keratoderma without any cardiac morbidity. However, she had sensorineural hearing loss and maculopathy. Thus, we present a patient with...
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