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Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet.
Features include common findings: Thin skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, and Telangiectasia and others; and sometimes findings: Abnormality of the knee, Recurrent loss of toenails and fingernails, and Abnormality of the elbow.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 10 | Thin skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity |
2 FDA-approved treatments are available for acral dystrophic epidermolysis bullosa, including Prademagene zamikeracel (zevaskyn, approved 2025) and beremagene geperpavec-svdt (VYJUVEK, approved 2023). An additional 6 compounds hold orphan drug designation.
Brand Name | Generic Name | Mechanism | Approved |
|---|
Phenotype severity distribution: 17 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for acral dystrophic epidermolysis bullosa.
2 publications have been identified in PubMed for acral dystrophic epidermolysis bullosa. Research spans Case Report / Case Series (100%).
Bighetti S (2025). [PMID: 40844377](https://pubmed.ncbi.nlm.nih.gov/40844377/). *Dermatology reports*. [Case Report / Case Series]
Chandler DJ (2024). [PMID: 38846683](https://pubmed.ncbi.nlm.nih.gov/38846683/). *Skin health and disease*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:17 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acral dystrophic epidermolysis bullosa
Arms and legs |
4 |
Dystrophic toenail, Abnormality of the lower limb, Dystrophic fingernails |
Digestive system | 1 | Esophageal stricture |
Muscles | 1 | Dermal atrophy |
zevaskyn | Prademagene zamikeracel | — | 2025 | Available |
VYJUVEK | beremagene geperpavec-svdt | — | 2023 | Available |
The following drugs have received orphan drug designation from the FDA for acral dystrophic epidermolysis bullosa. Orphan designation reflects regulatory interest and does not indicate approval for treatment.
Brand Name | Generic Name | Sponsor | Designated | Exclusivity End | Designation Status |
|---|---|---|---|---|---|
recombinant human type VII pro-collagen | recombinant human type VII pro-collagen | Nova Anchora, LLC | 2024 | — | Designated |
Highly branched poly(beta-amino ester) complexed with a nanoplasmid containing the human COL7A1 gene | Highly branched poly(beta-amino ester) complexed with a nanoplasmid containing the human COL7A1 gene | Amryt Genetics Limited | 2020 | — | Designated |
antisense oligonucleotide targeting exon 73 in the COL7A1 gene | antisense oligonucleotide targeting exon 73 in the COL7A1 gene | Phoenicis Therapeutics, Inc. | 2017 | — | Withdrawn |
autologous genetically modified human dermal fibroblasts | autologous genetically modified human dermal fibroblasts | Castle Creek Biosciences, LLC | 2014 | — | Designated |
recombinant human collagen alpha-1 (VII) chain homo-trimer (rC7) | recombinant human collagen alpha-1 (VII) chain homo-trimer (rC7) | Phoenix Tissue Repair | 2014 | — | Designated |
expanded allogeneic human dermal fibroblasts in hypothermosol(r)-FRS | expanded allogeneic human dermal fibroblasts in hypothermosol(r)-FRS | Intercytex Ltd. | 2009 | — | Designated |
View trials for acral dystrophic epidermolysis bullosa