Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

lethal acantholytic epidermolysis bullosa (LAEB) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal acantholytic epidermolysis bullosa

MONDO:0012323

Also known as:LAEBEBLAepidermolysis bullosa, lethal acantholytic

Overview

Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.

GeneticsAutosomal recessive · DSP (chr 6)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Alopecia universalis, Alopecia totalis, Aplasia cutis congenita, and Mitten deformity and others; and common findings: Natal tooth, Acantholysis, Absent fingernail, and Syndactyly and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	9	Widely spaced toes, Absent fingernail, Tapered distal phalanges of finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DSP encodes desmoplakin (2,871 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Skin Sun Exposed Lower leg (1,294 TPM) and Skin Not Sun Exposed Suprapubic (1,155 TPM).

Lethal acantholytic epidermolysis bullosa is associated with mutations in the DSP gene on chromosome 6.

The DSP protein participates in DSPGs are secreted pathway.

DSP is classified as a druggable target with score 1.8.

Diagnosis

Genetic testing for DSP is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 14 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lethal acantholytic epidermolysis bullosa.

1 publication has been identified in PubMed for lethal acantholytic epidermolysis bullosa. Research spans Review / Meta-Analysis (100%).

Recent Publications

Lehavi M (2025). [PMID: 40114115](https://pubmed.ncbi.nlm.nih.gov/40114115/). *BMC Pregnancy Childbirth*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Oct 23, 2026, 4:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609638

Orphanet

European rare disease database

Orphanet:158687

GARD

Genetic and Rare Diseases Info Center

GARD:9910

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

lethal acantholytic epidermolysis bullosa

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features