Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

C. Kasparis; D. Reid; N. J. Wilson; V. Okur; C. Cole; C. D. Hansen; K. Bosse; R. C. Betz; M. Khan; F. J. D. Smith

doi:10.1111/ced.12934

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

C. Kasparis, D. Reid, N. J. Wilson, V. Okur, C. Cole, C. D. Hansen, K. Bosse, R. C. Betz, M. Khan, F. J. D. Smith (Lead / Corresponding author)

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Abstract

Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.

Original language	English
Pages (from-to)	884-889
Number of pages	6
Journal	Clinical and Experimental Dermatology
Volume	41
Issue number	8
Early online date	27 Oct 2016
DOIs	https://doi.org/10.1111/ced.12934
Publication status	Published - Dec 2016

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10.1111/ced.12934Licence: CC BY

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© 2016 The Authors. Clinical and Experimental Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists, North American Clinical Dermatologic Society and St Johns Dermatological Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Final published version, 578 KBLicence: CC BY

Cite this

@article{0be6c82d9f324e98a7f63c022c19cf4f,

title = "Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature",

abstract = "Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.",

author = "C. Kasparis and D. Reid and Wilson, {N. J.} and V. Okur and C. Cole and Hansen, {C. D.} and K. Bosse and Betz, {R. C.} and M. Khan and Smith, {F. J. D.}",

note = "We thank all the families involved in this study. FJDS and NJW were supported by a grant from the Pachyonychia Congenita Project (to FJDS). We also thank M. E. Schwartz and H A. Evans of Pachyonychia Congenita Project (http://www.pachyonychia.org) for their assistance and useful comments and Professor E. O{\textquoteright}Toole, Department of Dermatology, The Royal London Hospital, London, for assistance with the diagnosis of family 1 and further guidance. The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to WHIMcL). RCB is a recipient of a Heisenberg Professorship of the German Research Foundation (DFG) and is a member of the DFG-funded Excellence Cluster ImmunoSensation.",

year = "2016",

month = dec,

doi = "10.1111/ced.12934",

language = "English",

volume = "41",

pages = "884--889",

journal = "Clinical and Experimental Dermatology",

issn = "0307-6938",

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T1 - Isolated recessive nail dysplasia caused by FZD6 mutations

T2 - report of three families and review of the literature

AU - Kasparis, C.

AU - Reid, D.

AU - Wilson, N. J.

AU - Okur, V.

AU - Cole, C.

AU - Hansen, C. D.

AU - Bosse, K.

AU - Betz, R. C.

AU - Khan, M.

AU - Smith, F. J. D.

N1 - We thank all the families involved in this study. FJDS and NJW were supported by a grant from the Pachyonychia Congenita Project (to FJDS). We also thank M. E. Schwartz and H A. Evans of Pachyonychia Congenita Project (http://www.pachyonychia.org) for their assistance and useful comments and Professor E. O’Toole, Department of Dermatology, The Royal London Hospital, London, for assistance with the diagnosis of family 1 and further guidance. The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to WHIMcL). RCB is a recipient of a Heisenberg Professorship of the German Research Foundation (DFG) and is a member of the DFG-funded Excellence Cluster ImmunoSensation.

PY - 2016/12

Y1 - 2016/12

N2 - Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.

AB - Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.

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DO - 10.1111/ced.12934

M3 - Article

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SP - 884

EP - 889

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

IS - 8

ER -

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

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