Cutaneous clues for diagnosing X-chromosomal disorders

M. Vreeburg; S. C. E. H. Sallevelt; A. P. A. Stegmann; M. van Geel; Y. J. H. A. Detisch; C. T. R. M. Schrander-Stumpel; M. A. M. van Steensel; D. Marcus-Soekarman

doi:10.1111/cge.12162

Cutaneous clues for diagnosing X-chromosomal disorders

M. Vreeburg (Lead / Corresponding author)
, S. C. E. H. Sallevelt
, A. P. A. Stegmann
, M. van Geel
, Y. J. H. A. Detisch
, C. T. R. M. Schrander-Stumpel
, M. A. M. van Steensel
, D. Marcus-Soekarman

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

1 Citation (Scopus)

Abstract

In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.

Original language	English
Pages (from-to)	328-335
Number of pages	8
Journal	Clinical Genetics
Volume	85
Issue number	4
Early online date	11 Apr 2013
DOIs	https://doi.org/10.1111/cge.12162
Publication status	Published - Apr 2014

Keywords

Genodermatology
Mosaicism
Multidisciplinary
Review
X chromosome

ASJC Scopus subject areas

Genetics(clinical)
Genetics
General Medicine

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10.1111/cge.12162

Cite this

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title = "Cutaneous clues for diagnosing X-chromosomal disorders",

abstract = "In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7\% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.",

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doi = "10.1111/cge.12162",

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AU - Vreeburg, M.

AU - Sallevelt, S. C. E. H.

AU - Stegmann, A. P. A.

AU - van Geel, M.

AU - Detisch, Y. J. H. A.

AU - Schrander-Stumpel, C. T. R. M.

AU - van Steensel, M. A. M.

AU - Marcus-Soekarman, D.

PY - 2014/4

Y1 - 2014/4

N2 - In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.

AB - In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30 of 409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertize in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.

KW - Genodermatology

KW - Mosaicism

KW - Multidisciplinary

KW - Review

KW - X chromosome

UR - https://www.scopus.com/pages/publications/84896729069

U2 - 10.1111/cge.12162

DO - 10.1111/cge.12162

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AN - SCOPUS:84896729069

SN - 0009-9163

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SP - 328

EP - 335

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -

Cutaneous clues for diagnosing X-chromosomal disorders

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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