Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature

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Item Type:	Article
Title:	Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature
Creators Name:	Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, H.C.
Abstract:	Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations. All patients were born as collodion babies and displayed prominent knuckle pads. We identified the previously reported mutation 730insG in LOR, which elongates loricrin by 22 amino acids because of delayed termination. As pseudoainhums are missing in all patients of the family reported, we propose two compulsory features of loricrin keratoderma: (i) honeycomb palmoplantar keratoderma and (ii) diffuse ichthyosiform dermatosis. Therefore we suggest that the condition should be described clinically as 'honeycomb palmoplantar keratoderma with ichthyosis'. Furthermore, we have assessed the amounts of transcript of LOR using pyrosequencing. This revealed an equal expression of mutant and wild-type alleles of LOR in an affected individual. These findings further underline the gain-of-function theory for mutant LOR in loricrin keratoderma.
Keywords:	Loricrin, Loricrin Keratoderma, Mutilating Keratoderma, Vohwinkel Syndrome
Source:	British Journal of Dermatology
ISSN:	0007-0963
Publisher:	Blackwel Publishing
Volume:	154
Number:	1
Page Range:	167-171
Date:	December 2006
Official Publication:	https://doi.org/10.1111/j.1365-2133.2005.06995.x
PubMed:	View item in PubMed

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