Clouston syndrome can mimic pachyonychia congenita

Maurice van Steensel; Michel van Geel; Peter M. Steijlen; Marcel F. Jonkman; Irwin McLean; Frances Smith

doi:10.1046/j.1523-1747.2003.12527.x

Clouston syndrome can mimic pachyonychia congenita

Maurice van Steensel, Michel van Geel, Peter M. Steijlen, Marcel F. Jonkman, Irwin McLean, Frances Smith (Lead / Corresponding author)

Biological Chemistry and Drug Discovery

Research output: Contribution to journal › Article › peer-review

40 Citations (Scopus)

Abstract

We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.

Original language	English
Pages (from-to)	1035-1038
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	121
Issue number	5
DOIs	https://doi.org/10.1046/j.1523-1747.2003.12527.x
Publication status	Published - 2003

Keywords

Connexin 30
Genodermatosis
GJB6
Nail dystrophy
Pachyonychia congenita

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title = "Clouston syndrome can mimic pachyonychia congenita",

abstract = "We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.",

keywords = "Connexin 30, Genodermatosis, GJB6, Nail dystrophy, Pachyonychia congenita",

author = "{van Steensel}, Maurice and {van Geel}, Michel and Steijlen, {Peter M.} and Jonkman, {Marcel F.} and Irwin McLean and Frances Smith",

note = "dc.publisher: Nature Publishing Group Senior author involved in the overall strategy, planning, laboratory work and writing of the first paper to show that mutations in the connexin 30 gene, encoding a gap junction protein abundant in the epidermis and its appendages, can phenocopy a keratin disorder, pachyonychia congenita. ",

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doi = "10.1046/j.1523-1747.2003.12527.x",

language = "English",

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T1 - Clouston syndrome can mimic pachyonychia congenita

AU - van Steensel, Maurice

AU - van Geel, Michel

AU - Steijlen, Peter M.

AU - Jonkman, Marcel F.

AU - McLean, Irwin

AU - Smith, Frances

N1 - dc.publisher: Nature Publishing Group Senior author involved in the overall strategy, planning, laboratory work and writing of the first paper to show that mutations in the connexin 30 gene, encoding a gap junction protein abundant in the epidermis and its appendages, can phenocopy a keratin disorder, pachyonychia congenita.

PY - 2003

Y1 - 2003

N2 - We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.

AB - We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.

KW - Connexin 30

KW - Genodermatosis

KW - GJB6

KW - Nail dystrophy

KW - Pachyonychia congenita

U2 - 10.1046/j.1523-1747.2003.12527.x

DO - 10.1046/j.1523-1747.2003.12527.x

M3 - Article

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SP - 1035

EP - 1038

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 5

ER -

Clouston syndrome can mimic pachyonychia congenita

Abstract

Keywords

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