Treatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.

Case Rep Dermatol

Weill Cornell Medicine, Department of Dermatology, New York, NY, USA.

Published: December 2024

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11781811PMC
http://dx.doi.org/10.1159/000543032DOI Listing

Publication Analysis

Top Keywords

hereditary leukonychia
16
intramatricial triamcinolone
12
treatment
8
treatment hereditary
8
leukonychia
8
triamcinolone case
8
leukonychia fingernails
8
nail matrix
8
nail
5
leukonychia intramatricial
4

Similar Publications

Treatment of Hereditary Leukonychia with Intramatricial Triamcinolone: A Case Report.

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 PDF

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

JAMA Dermatol

August 2024

Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland.

Article Synopsis
  • BAP1 tumor predisposition syndrome (TPDS) is linked to an increased risk for several types of cancer, making early detection crucial for patients and their families.
  • A study examined nail abnormalities in 47 individuals with known BAP1 variants, revealing that 87.2% of participants had some form of nail issue, including leukonychia and onychopapilloma.
  • The findings highlight the prevalence of nail abnormalities among BAP1 TPDS patients, suggesting that these changes could serve as a clinical indicator for further evaluation and monitoring of cancer risk.
View Article and Find Full Text PDF

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 PDF
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.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!