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Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series

Hong Kong medical journal = Xianggang yi xue za zhi, 2021-10, Vol.27 (5), p.358 [Peer Reviewed Journal]

2021. This work is published under https://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1024-2708 ;EISSN: 2226-8707 ;DOI: 10.12809/hkmj208902 ;PMID: 34706987

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  • Title:
    Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series
  • Author: Yu, P T ; Ho, S ; Ng, S C ; Lo, F M ; Luk, H M
  • Subjects: Asians - genetics ; Biopsy ; Erythema ; Family medical history ; Fingers & toes ; Histology ; Hong Kong ; Humans ; Hyperhidrosis ; Hyperplasia ; Keratoderma, Palmoplantar - genetics ; Keratoderma, Palmoplantar, Diffuse ; Mutation ; Patients
  • Is Part Of: Hong Kong medical journal = Xianggang yi xue za zhi, 2021-10, Vol.27 (5), p.358
  • Description: Molecular studies are sometimes crucial to reach an accurate subtype classification as there are significant overlapping clinical features and heterogeneity among different types of hereditary PPK. In Asia, the most frequent type of PPK is Nagashima PPK, with an estimated prevalence of 3.1 per 10 000 population.1 This article summarises the clinical features and molecular findings in three Chinese individuals with isolated diffuse hereditary PPK recruited from a single centre and highlights the significance of genetic testing in reaching an accurate classification and diagnosis. Skin biopsy is characterised by histological findings of hyperkeratosis and acanthosis in the epidermis without evidence of epidermolysis.2 SLURP-1 was subsequently identified to be responsible for Meleda disease in 2001 by Fischer et al.3 SLURP-1 is involved in regulation of inflammation and keratinocyte apoptosis.
  • Publisher: China: Hong Kong Academy of Medicine
  • Language: English;Chinese
  • Identifier: ISSN: 1024-2708
    EISSN: 2226-8707
    DOI: 10.12809/hkmj208902
    PMID: 34706987
  • Source: GFMER Free Medical Journals
    MEDLINE
    ProQuest Central
    DOAJ Directory of Open Access Journals
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