Pseudoainhum and universal alopecia

Affiliations

¹ Department of Dermatology and Phlebology, Vivantes Klinikum im Friedrichshain, Berlin, Germany.
² Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
³ Department of Orthopedics, Trauma, Hand and Reconstructive Surgery, Center for Musculoskeletal Medicine, Vivantes Klinikum im Friedrichshain, Berlin, Germany.

Case Reports

Lisa C Schneider et al. J Dtsch Dermatol Ges. 2024 Sep.

. 2024 Sep;22(9):1287-1289.

doi: 10.1111/ddg.15449. Epub 2024 Jun 23.

¹ Department of Dermatology and Phlebology, Vivantes Klinikum im Friedrichshain, Berlin, Germany.
² Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
³ Department of Orthopedics, Trauma, Hand and Reconstructive Surgery, Center for Musculoskeletal Medicine, Vivantes Klinikum im Friedrichshain, Berlin, Germany.

No abstract available

Keywords: alopecia; cholesterol; cornified envelope; lanosterol synthase; palmoplantar keratoderma; pseudoainhum.

References

1. Wallis C, Ip FS, Beighton P. Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. Am J Med Genet. 1989;32:500‐503.
1. Bhatia KK, Chaudhary S, Pahwa US, Mehrotra GC. Keratoma hereditaria mutilans (Vohwinkel's disease) with congenital alopecia universalis (atrichia congenita). J Dermatol. 1989;16:231‐236.
1. Castori M, Valiante M, Ritelli M, et al. Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome. Am J Med Genet A. 2010;152A:2043‐2047.
1. Castori M, Morlino S, Sana ME, et al. Clinical and molecular characterization of two patients with palmoplantar keratoderma‐congenital alopecia syndrome type 2. Clin Exp Dermatol. 2016;41:632‐635.
1. Yang F, Jiang X, Zhu Y, et al. Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma‐congenital alopecia syndrome type 2. J Invest Dermatol. 2022;142:2687‐2694. e2.