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Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair.

Maruthappu, Thiviyani and McGinty, Lisa A. and Blaydon, Diana C. and Fell, Benjamin and Määttä, Arto and Duit, Rebecca and Hawkins, Tim and Braun, Kristin M. and Simpson, Michael A. and O’Toole, Edel A. and Kelsell, David P. (2018) 'Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair.', Journal of investigative dermatology., 138 (4). pp. 984-987.

Abstract

To the Editor Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the volar epidermis (Blaydon and Kelsell, 2014, Maruthappu et al., 2014). A subset of palmoplantar keratodermas are associated with syndromes linked to other cutaneous features (Betz et al., 2012) and also noncutaneous conditions such as hearing loss, cardiomyopathy, and esophageal cancer (Blaydon Diana et al., 2012, Kelsell et al., 2001). Palmoplantar keratodermas specifically associated with defects in hair development include the desmosomal disorders linked to phenotypes such as woolly hair and alopecia (Brooke et al., 2012). Two adult siblings from a consanguineous family of Pakistani origin, whose parents were first cousins, presented with an autosomal recessively inherited palmoplantar keratoderma, leukonychia, and exuberant curly scalp hair (Figure 1a). Both affected individuals described the progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years. Examination revealed marked diffuse, verrucous hyperkeratosis with deep fissuring affecting the soles (Figure 1a) and to a lesser extent, the palms. There was no evidence of transgradiens. The toenails were dystrophic with onycholysis and leukonychia was also present, most evident in the finger nails. Onychomycosis was excluded by negative fungal culture. No abnormalities of teeth or sweating were identified. The siblings also described having extremely thick, rapidly growing curly scalp hair since childhood, but without excessive hair growth elsewhere. Neither parent had a similar hair or skin phenotype, and they had no other offspring. Clinical photographs were obtained, and written consent was provided by patients for their publication. Blood samples were collected after written informed consent in adherence with the Declaration of Helsinki principles and approval of the East London and City Health Authority. Whole-exome capture from both siblings was performed using SeqCap EZ Human Exome Library v2.0 (Roche NimbleGen, Madison, WI) and sequenced with 100-bp paired-end reads on the HiSeq 2000 platform (Illumina, San Diego, CA). Resulting reads were mapped to the hg18 human reference genome using the Novoalign alignment tool (Novocraft Technologies Sdn Bhd, Selangor, Malaysia). Sequence variants were called with SAMtools and annotated with ANNOVAR (Wang et al., 2010).

Item Type:Article
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First Live Deposit - 09 April 2018
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Status:Peer-reviewed
Publisher Web site:https://doi.org/10.1016/j.jid.2017.10.031
Publisher statement:© 2017 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Record Created:09 Apr 2018 09:58
Last Modified:09 Apr 2018 16:15

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