Introduction: Hereditary leukonychia is a rare genetic nail disorder characterized by whitening of the nail plate, which is sometimes due to mutations in the () gene. While leukonychia is typically asymptomatic, it carries significant psychosocial burden, and patients often report that others comment that they look like they are wearing nail polish. There are no known treatment options.
Case Presentation: A 39-year-old Kuwaiti male with autosomal recessive variant of PLCδ1-related non-syndromic leukonychia affecting nine fingernails presented for treatment because he was socially stigmatized. Treatment with 30% glycolic acid chemical peel was ineffective. Because there is evidence suggesting a link between PLCδ1-related hereditary leukonychia and abnormal keratinization, we hypothesized that injection of steroids into the nail matrix, which could inhibit keratinocyte activity and reduce nail matrix inflammation, may be an effective treatment. Following treatment with intramatricial triamcinolone, the patient experienced complete resolution of leukonychia in five fingernails and partial improvement in the remaining four.
Conclusion: We present a case of successful treatment of hereditary leukonychia due to a phospholipase C δ-1 gene mutation with intramatricial triamcinolone. This case highlights the potential of this treatment approach for leukonychia and warrants further investigation in larger cohort studies.
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http://dx.doi.org/10.1159/000543032 | DOI Listing |
Case Rep Dermatol
December 2024
Weill Cornell Medicine, Department of Dermatology, New York, NY, USA.
Introduction: Hereditary leukonychia is a rare genetic nail disorder characterized by whitening of the nail plate, which is sometimes due to mutations in the () gene. While leukonychia is typically asymptomatic, it carries significant psychosocial burden, and patients often report that others comment that they look like they are wearing nail polish. There are no known treatment options.
View Article and Find Full Text PDFJAMA Dermatol
August 2024
Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.
Skinmed
March 2023
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
A 1-year-old girl presented with porcelain white fingernails, accidentally discovered when she was referred for an infantile hemangioma consultation. The family reported that the nails had been milky white since birth and her father had similar white finger and toenails. The father remembered that additional family members on his side of the family presented with white nails; however, he could not provide exact information about the number of other relatives affected by this nail abnormality.
View Article and Find Full Text PDFJ Dermatol
August 2023
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Mol Med Rep
June 2021
Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, Shanghai 200443, P.R. China.
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