Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lethal acantholytic epidermolysis bullosa.

Dermatologic clinics - 1 Jan 2010

McGrath John A, Bolling Maria C, Jonkman Marcel F

Abstract excerpt

Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). It is recognized as a distinct form of suprabasal epidermolysis bullosa simplex, although only a single case has been reported. The phenotype comprises severe fragility of skin and mucous membranes with marked transcutaneous fluid loss. Other...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epidermis
Share to Epidermolysis Bullosa
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Heart Defects, Congenital

Share to Infant, Newborn

Share to Mutation

Share to Desmoplakins

Source

Identifiers

PMID: 19945626
DOI: 10.1016/j.det.2009.10.015

Genes

DSP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lethal acantholytic epidermolysis bullosa.PMID 19945626Read ↗

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.Semantic proximity Read ↗

Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.Semantic proximity Read ↗

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.Semantic proximity Read ↗

Desmosomal genodermatoses.Semantic proximity Read ↗

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.Semantic proximity Read ↗

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.Semantic proximity Read ↗

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis BullosaSemantic proximity Read ↗

Inherited epidermolysis bullosaSemantic proximity Read ↗

Recently Identified Forms of Epidermolysis BullosaSemantic proximity Read ↗

Inherited desmosomal disorders.Semantic proximity Read ↗

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.Semantic proximity Read ↗

Inherited disorders of desmosomes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.