Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype

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 type 4 WH-PPK with a novel phenotype to highlight the rare WH-PPK syndromes. The association of woolly hair and palmoplantar keratoderma without cardiomyopathy, and with macular deposits and sensorineural hearing loss, has not been reported before.