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.
authors.affiliation: Department of Clinical Genetics.
authors.forename: M
authors.initials: M
authors.lastname: Vreeburg
authors.forename: S C E H
authors.initials: SC
authors.lastname: Sallevelt
authors.forename: A P A
authors.initials: AP
authors.lastname: Stegmann
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.forename: Y J H A
authors.initials: YJ
authors.lastname: Detisch
authors.forename: C T R M
authors.initials: CT
authors.lastname: Schrander-Stumpel
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: D
authors.initials: D
authors.lastname: Marcus-Soekarman
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D017410:Practice Guidelines as Topic; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*
keywords: X chromosome; genodermatology; mosaicism; multidisciplinary; review