Cutaneous clues for diagnosing X-chromosomal disorders

M. Vreeburg*, 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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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 languageEnglish
Pages (from-to)328-335
JournalClinical Genetics
Issue number4
Publication statusPublished - Apr 2014


  • genodermatology
  • mosaicism
  • multidisciplinary
  • review
  • X chromosome

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