Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response...

Area of Science:

• Genetics and Molecular Biology
• Dermatology
• Rare Diseases

Background:

• Plectinopathies are a group of genetic disorders stemming from mutations in the PLEC gene.
• These conditions typically manifest with a broad spectrum of symptoms, frequently involving extracutaneous features such as pyloric atresia, muscular dystrophy, and cardiomyopathy, in addition to cutaneous blistering.

Purpose of the Study:

• To report a unique case of epidermolysis bullosa simplex (EBS) with an unusual presentation and treatment response.
• To emphasize the importance of considering genetic variations and individualized treatment approaches in plectinopathies.

Main Methods:

• Clinical case presentation of a 14-year-old girl with a history of blistering since childhood.
• Genetic analysis identifying a nonsense PLEC mutation at exon 1.
• Assessment of clinical manifestations and response to dapsone therapy.

Main Results:

• The patient presented with tense, pruritic vesicles and bullae on the extremities and trunk, consistent with intermediate epidermolysis bullosa simplex.
• Notably, the patient lacked extracutaneous manifestations typically associated with plectinopathies.
• A significant and dramatic improvement in skin symptoms was observed following dapsone treatment.

Conclusions:

• This case underscores the phenotypic variability within plectinopathies, demonstrating a presentation solely limited to cutaneous manifestations.
• The favorable response to dapsone suggests its potential therapeutic role in specific PLEC-related disorders, even in the absence of extracutaneous involvement.
• Further research into the genotype-phenotype correlations and therapeutic strategies for plectinopathies is warranted.