The P25L Mutation in the KRT5 Gene in a Chinese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Case Report and Literature Review

2026-07-10T10:56:00+08:00

Background: Epidermolysis bullosa simplex (EBS) with mottled pigmentation (EBS-MP; OMIM 131960) is a rare subtype of EBS that is characterized by blistering, mottled pigmentation, punctate hyperkeratosis, and dystrophic nails. It is predominantly caused by heterozygous gain-of-function mutations in the keratin 5 (KRT5) and keratin 14 (KRT14) genes. Objective: The purpose of this study was to identify the KRT5 and KRT14 gene mutations in a Chinese family affected with EBS-MP and analyze the clinical manifestations. Methods: Whole-exome sequencing (WES) and Sanger sequencing were performed to explore the mutations of an EBS-MP pedigree that included a 24-year-old man and his parents. Results: WES revealed a heterozygous c.74C>T (p.Pro25Leu) mutation in KRT5 in the proband and his mother, which caused the substitution of proline in codon 25 with leucine (p.P25L). The same mutation was not present in the unaffected father. Conclusion: We confirmed the diagnosis of EBS-MP in this family, which was caused by the p.P25L mutation in KRT5. The proband presents additional manifestations, clinical heterogeneity of EBS-MP about skin features is acknowledged. Further observations and studies of EBS-MP are required to confirm or exclude the possible connection.

Association Between Scar Formation and Stigma in Survivors of Deep Burns to Sensitive Areas

2026-07-10T10:55:59+08:00

Survivors of burns to sensitive areas can develop scars of different degrees and are highly likely to experience stigma. However, current evidence on the association between scar formation and stigma in survivors of burns to these sensitive areas is limited and inconsistent. The objective was to determine whether scar formation is independently associated with stigma in survivors of burns to sensitive areas. 109 survivors of deep burns to sensitive areas were selected via convenience sampling to fill out a questionnaire. The degree of stigma was evaluated with the Social Influence Scale (SIS). R software version 4.3.0 was used to perform t-tests and logistic regression analyses. After adjusting for age, sex, education level, occupation, marital status, means of medical payment, proportion of medical insurance reimbursement, total score of disability acceptance, and perceived social support score, scar formation was associated only with the degree of social marginalization (odds ratio = 1.199, 95% confidence interval: 1.002–1.436). Scar formation increases the degree of stigma among survivors of deep burns to sensitive areas. If scar formation cannot be prevented, active rehabilitation treatments should be adopted in the early stages of scar formation to reduce the degree of resulting stigma.

Dermatological Health

The P25L Mutation in the KRT5 Gene in a Chinese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Case Report and Literature Review

Association Between Scar Formation and Stigma in Survivors of Deep Burns to Sensitive Areas