Jadassohn-Lewandowsky syndrome: A rare genodermatosis

Authors

  • Sunil Kumar Gupta
  • Dr. Deepika
  • Dr. Monika
  • Khushman Singh

DOI:

https://doi.org/10.66344/jpad.26.4.2016.963

Keywords:

Pachyonychia congenita, Jadassohn-Lewandowsky syndrome, palmoplantar keratoderma

Abstract

Pachyonychia congenita (PC) is a rare type of genodermatosis characterized by palmoplantar keratoderma, subungual hyperkeratosis, and oral mucosal leukokeratoses along with other features like hyperkeratotic follicular papules, hyperhidrosis of palms and soles, and hair abnormalities. It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body. 

References

Muller C. On the causes of congenital onychogryphosis. Mcn Med Wochenschr. 1904;49:2180-2.

Wilson AG. Three cases of hereditary hyperkeratosis of the nail bed. Br J Dermatol. 1905;17:13-4.

Jadassohn J, Lewandowsky F. Pachyonychia congenita. Keratosis disseminata circumscripta (follicularis). Tylomata. Leukokeratosis linguae. In: Jacob’s Ikonographia Dermatologica. 1st ed. Berlin: Urban und Schwarzenberg; 1906. P. 29-31.

Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P et al. The genetic basis of pachyonychia congenital. J Investig Dermatol Symp Proc. 2005;10:21-30.

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:3-17.

Prasad AM, Inakanti Y, Kumar S. Jadassohn Lewandowsky syndrome: A rare entity. Indian J Dermatol. 2015;60:524.

Ehsani A, Moeineddin F, Rajaee A. Pachyonychia congenita with woolly hair in a 10 month old infant. Indian J Dermatol Venereol Leprol. 2008;74:485-6.

Luo S, Luo Q, Zhang H, Wan C. A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita. Indian J Dermatol Venereol Leprol. 2015;81:385-7.

Balasubramanian S, Kaarthigeyan K, Ramnath B. Pachyonychia congenital with unusual features. Indian Pediatr. 2009;46:897-9.

Jaiswal A K, Badrinath S, Pillai J, Bhardwaj M. Pachyonychia congenita tarda. Indian J Dermatol Venereol Leprol. 1994;60:43-4.

Downloads

Published

2017-04-12

How to Cite

1.
Gupta SK, Deepika D, Monika D, Singh K. Jadassohn-Lewandowsky syndrome: A rare genodermatosis. J Pak Assoc Dermatol [Internet]. 2017Apr.12 [cited 2026May2];26(4):389-91. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/963

Issue

Vol. 26 No. 4 (2016): October - December

Section

Case Reports

License

Submission declaration

Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.

By submitting a manuscript, authors confirm that the work has not been published previously (except as an abstract, lecture, or academic thesis), is not under review elsewhere, and has been approved by all authors and relevant authorities. Once accepted, the article will be openly accessible under the CC BY 4.0 license, ensuring wide dissemination and reuse with proper attribution.

Most read articles by the same author(s)