Journal of the American Academy of Dermatology
Volume 61, Issue 5 , Pages 813-818 , November 2009

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair

  • Liran Horev, MD

      Affiliations

    • Department of Dermatology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • Center for Genetic Diseases of the Skin and Hair, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Antonella Tosti, MD

      Affiliations

    • Department of Dermatology, University of Bologna, Bologna, Italy
    • ,
  • Irit Rosen, BSc

      Affiliations

    • Center for Genetic Diseases of the Skin and Hair, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Klilah Hershko, MD

      Affiliations

    • Department of Pathology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Colombina Vincenzi, MD

      Affiliations

    • Department of Dermatology, University of Bologna, Bologna, Italy
    • ,
  • Krassimira Nanova, MD

      Affiliations

    • Department of Dermatology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Alexander Mali, MD

      Affiliations

    • Department of Pathology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Tamara Potikha, PhD

      Affiliations

    • Goldyne Savad Institute of Gene Therapy, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • ,
  • Abraham Zlotogorski, MD

      Affiliations

    • Department of Dermatology, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • Center for Genetic Diseases of the Skin and Hair, Hadassah – Hebrew University Medical Center, Jerusalem, Israel
    • Corresponding Author InformationCorrespondence to: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah – Hebrew University Medical Center, PO Box 12000, Jerusalem 91120, Israel.

,Accepted 6 April 2009.

References 

  1. Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003;113:249–260
  2. Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet. 2003;34:151–153
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  13. Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009;41:228–233
  14. Baumer A, Belli S, Trueb RM, Schinzel A. An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. Eur J Hum Genet. 2000;8:443–448
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  17. Protonotarios N, Tsatsopoulou A, Patsourakos P, Alexopoulos D, Gezerlis P, Simitsis S, et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J. 1986;56:321–326
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 Supported by the Authority for Research and Development, Hebrew University of Jerusalem (Dr Zlotogorski).

 Conflicts of interest: None declared.

 Reprints not available from the authors.

PII: S0190-9622(09)00512-X

doi: 10.1016/j.jaad.2009.04.020

Journal of the American Academy of Dermatology
Volume 61, Issue 5 , Pages 813-818 , November 2009

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