Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, until recently not diagnosed. The active search for familial cases in patients with suspicious manifestations and identification of peculiar characteristics of its subtypes, as multiplex steatocystoma, provide early clinical diagnosis. In addition, nurture the family counseling and informations about prognosis.
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http://dx.doi.org/10.1590/s0365-05962011000600032 | DOI Listing |
Br J Dermatol
January 2025
Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK.
Front Genet
November 2024
Department of Dermatology, The Union Hospital, Fujian Medical University, Fuzhou, China.
Introduction: The occurrence of pachyonychia congenita (PC) and acne inversa (AI) may be related to gene mutations. The aim of this study is to identify the genetic cause in a patient with PC and AI, and to explore the possible molecular mechanism of their co-occurrence.
Methods: The clinical data of the proband were collected, and the genomic DNA of the proband and unaffected parents were extracted.
Int J Dermatol
November 2024
Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
J Invest Dermatol
October 2024
Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Tel-Aviv University, Tel Aviv, Israel.
JAMA Dermatol
December 2024
Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.
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