Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report

This case underscores the importance of family history and genetic evaluation in the diagnosis and management of this syndrome. Repeated CO<sub>2</sub> laser therapy may provide effective long-term cosmetic control of facial lesions.

Authors

Kento Takaya (ORCID: https://orcid.org/0000-0001-8992-2762)
Shigeki Sakai
Kazuo Kishi (ORCID: https://orcid.org/0000-0002-4298-9828)

Institutions

Keio University (JP)

Publication Details

Journal: Case Reports in Dermatology
Published: 2025-11-10
DOI: https://doi.org/10.1159/000548697
Primary Topic: Cancer and Skin Lesions
Type: article
Field-Weighted Citation Impact: 0.00

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article

Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report

Kento Takaya, Shigeki Sakai, Kazuo Kishi

Nov 10, 2025

Case Reports in Dermatology

Cancer and Skin Lesions

article

Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report

Kento Takaya, Shigeki Sakai, Kazuo Kishi

November 10, 2025article en

Abstract

Case Reports in DermatologyVol. 17(1)

Keio University (JP)

Openalex Percentile: Top 43%

Cancer and Skin Lesions

DOI Open Access PDF OpenAlex

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Brooke-Spiegler Syndrome in Japanese Siblings with an R758X Mutation: A Case Report — Kento Takaya, Shigeki Sakai, et al. · Case Reports in Dermatology (2025) | TGRS Research Map | TGRS