Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long‐term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in  KRT10

R.C Lamb,A Terron‐Kwiatowski,J Lang,W.H.I Mclean,D Baty,M Zamiri

doi:10.1111/bjd.13049

Abstract

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long‐term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in <scp> <i>KRT10</i> </scp>

Highlights

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Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during longterm isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in DEAR EDITOR, Epidermolytic ichthyosis (EI; OMIM 113800), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous disorder of keratinization. It is usually characterized by severe neonatal erythroderma, blistering and fragile skin, with the subsequent development of hyperkeratosis, predominantly in flexural areas. It is caused by mutations in either the KRT1 or KRT10 genes encoding the suprabasal keratins K1 and K10, respectively.[1]
We report a multigeneration kindred with EI due to a novel mutation in KRT10

Summary

University of Dundee

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during longterm isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10 Lamb, R. C.; Lang, J.; Terron-Kwiatowski, A.; Baty, D.; McLean, W.

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