Focal palmoplantar keratoderma with mutilating arthropathy: An interesting case report

Vohwinkel syndrome, characterized classically by a triad of diffuse honeycomb hyperkeratosis of palms and soles; star-shaped hyperkeratosis on the dorsa of hands, feet, knees, and elbows; and pseudoainhum is a rare type of hereditary form of palmoplantar keratoderma (PPK) which can present as two classical variants: Deafness associated variant and ichthyosis associated variant. Here we report a rare variant of hereditary PPK in a 22-year-old male patient presenting as focal PPK with striate hyperkeratosis on elbows and knees and mutilating arthropathy in addition to deafness and prognathism, the diagnosis being supported by histopathology, X-rays, and genetic mapping showing connexin defect. There are umpteen numbers of genetically inherited PPK syndromes associated with closely mimicking cutaneous features, autoamputation, and a wide range of systemic manifestations, where the differentiation of specific entities is always a difficult task. The present case is probably the first of its kind being reported from India.