Nothing to report.
Cutaneous clues for diagnosing X-chromosomal disorders
Article first published online: 14 AUG 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 4, pages 328–335, April 2014
How to Cite
Vreeburg, M., Sallevelt, S.C.E.H., Stegmann, A.P.A., van Geel, M., Detisch, Y.J.H.A., Schrander-Stumpel, C.T.R.M., van Steensel, M.A.M. and Marcus-Soekarman, D. (2014), Cutaneous clues for diagnosing X-chromosomal disorders. Clinical Genetics, 85: 328–335. doi: 10.1111/cge.12162
- Issue published online: 10 MAR 2014
- Article first published online: 14 AUG 2013
- Accepted manuscript online: 11 APR 2013 12:51PM EST
- Manuscript Revised: 5 APR 2013
- Manuscript Accepted: 5 APR 2013
- Manuscript Received: 14 JAN 2013
- X chromosome
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.