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Lethal Alleles

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Granulocyte-dependent Autoantibody-induced Skin Blistering

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Published on: October 12, 2012

Lethal acantholytic epidermolysis bullosa.

John A McGrath¹, Maria C Bolling, Marcel F Jonkman

¹St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK. john.mcgrath@kcl.ac.uk

Dermatologic Clinics

|December 1, 2009

Summary

Lethal acantholytic epidermolysis bullosa (LAEB) is a severe genetic skin disorder caused by desmoplakin (DSP) gene mutations. This rare condition leads to extreme skin fragility and affects multiple organs, proving fatal in neonates.

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Area of Science:

Dermatology
Genetics
Molecular Biology

Background:

Lethal acantholytic epidermolysis bullosa (LAEB) is a rare autosomal recessive genodermatosis.
It stems from mutations in the desmoplakin (DSP) gene, crucial for desmosome structure and function.

Observation:

A single reported case exhibited severe skin and mucous membrane fragility with significant fluid loss.
Clinical features included alopecia, neonatal teeth, anonychia, and widespread epithelial defects.

Findings:

Skin biopsy revealed suprabasal clefting, acantholysis, and disrupted keratin intermediate filament-desmosome connections.
DSP mutations resulted in truncated desmoplakin polypeptides lacking the keratin-binding tail domain.

Implications:

This case highlights the critical role of the DSP tail domain in epithelial integrity.
Understanding DSP mutations expands knowledge of desmosomal genodermatoses and associated systemic effects, including cardiac abnormalities.