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| http://dx.doi.org/10.4103/0019-5154.74575 | DOI Listing |
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Identification of two novel mutations in the gene in Chinese patients with hereditary leukonychia.
Mol Med Rep
June 2021
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
Article Synopsis
- Hereditary leukonychia (HL) is a rare nail disease that can affect both fingernails and toenails in families.
- A study looked at a Chinese family and one other person with HL and found that all family members had the same nail issues and had koilonychia (spoon-shaped nails) when they were kids.
- Researchers discovered two new gene mutations related to HL, helping to show how this condition works and emphasizing the importance of genetic testing.
Image Gallery: Spoon-shaped nails in an 11-year-old boy.
Br J Dermatol
February 2019
Hospital Universitario 12 de Octubre - Dermatology, Avenida de Córdoba s/n, Madrid, 28041, Spain.
Identification of a novel PLCD1 mutation in Chinese Han pedigree with hereditary leukonychia and koilonychia.
J Cosmet Dermatol
June 2019
Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
Background: Hereditary leukonychia is a rare nail dystrophy characterized by distinctive whitening of the nail plate. Mutations in the PLCD1 gene have been identified as a major causative factor in hereditary leukonychia (HL). However, few reports have analyzed the relationship between genotype and phenotype, especially in Chinese HL patients.
View Article and Find Full Text PDFVisual Diagnosis: Spoon Nails and Short, Brittle Hair in a 3-year-old Boy.
Pediatr Rev
September 2016
Departments of Dermatology and Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA.
A syndrome of leukonychia, koilonychia and multiple pilar cysts.
Acta Derm Venereol
February 2015
Department of Dermatology, Toho University Ohashi Medical Center, 2-17-6 Ohashi, Meguro-ku, Tokyo, 153-8515, Japan.
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