Clouston syndrome can mimic pachyonychia congenita

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

Research output: Contribution to journalArticle

38 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 languageEnglish
Pages (from-to)1035-1038
Number of pages4
JournalJournal of Investigative Dermatology
Volume121
Issue number5
DOIs
Publication statusPublished - 2003

Fingerprint

Pachyonychia Congenita
Ectodermal Dysplasia
Malformed Nails
Genes
Nails
Connexins
Keratins
Missense Mutation
Phenotype
Mutation

Keywords

  • Connexin 30
  • Genodermatosis
  • GJB6
  • Nail dystrophy
  • Pachyonychia congenita

Cite this

van Steensel, M., Jonkman, M. F., van Geel, M., Steijlen, P. M., McLean, I., & Smith, F. (2003). Clouston syndrome can mimic pachyonychia congenita. Journal of Investigative Dermatology, 121(5), 1035-1038. https://doi.org/10.1046/j.1523-1747.2003.12527.x
van Steensel, Maurice ; Jonkman, Marcel F. ; van Geel, Michel ; Steijlen, Peter M. ; McLean, Irwin ; Smith, Frances. / Clouston syndrome can mimic pachyonychia congenita. In: Journal of Investigative Dermatology. 2003 ; Vol. 121, No. 5. pp. 1035-1038.
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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.",
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van Steensel, M, Jonkman, MF, van Geel, M, Steijlen, PM, McLean, I & Smith, F 2003, 'Clouston syndrome can mimic pachyonychia congenita', Journal of Investigative Dermatology, vol. 121, no. 5, pp. 1035-1038. https://doi.org/10.1046/j.1523-1747.2003.12527.x

Clouston syndrome can mimic pachyonychia congenita. / van Steensel, Maurice; Jonkman, Marcel F.; van Geel, Michel; Steijlen, Peter M.; McLean, Irwin; Smith, Frances (Lead / Corresponding author).

In: Journal of Investigative Dermatology, Vol. 121, No. 5, 2003, p. 1035-1038.

Research output: Contribution to journalArticle

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