Original Research Paper

Cole Disease - A Case Report Of Rare Genodermatosis

Abstract :

Cole disease is one of the syndromes with palmoplantar keratoderma (PPK) as an associated feature. PPKs are heterogenous group of disorders characterized by hyperkeratosis of palms and soles. Majority of PPKs are hereditary, some are part of other dermatoses and few are acquired. Cole disease is a rare, autosomal dominant genodermatosis with features of pigmentary anomaly and punctate keratoderma. Exact prevalence is not known. It occurs due to mutation of ENPP1 gene located on chromosome 6q23, encoding ectonucleotide pyrophosphate/phosphodiesterase 1. Presents at birth or early infancy with guttate hypopigmented macules over extremities and keratoderma of palms and soles. There is no treatment for the disease at present and management is purely supportive. This is a report of 23 year old female patient who presented with pigmented, flat lesions over extremities, back and thickening of palmoplantar skin.

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