Recessive Dystrophic Epidermolysis Bullosa Inversa

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

COL7A1, MMP1, GRIP1, MMP7, THBS1, TP53, ATN1, DCN, MSC, CD44, POSTN, ABCB5, PIK3CG, PLK1, UPF1, SERPINA13P, TAGLN, TGFB1, TGM2, PRSS55, CRISP2, VEGFA, XPC, PIK3CB, SPZ1, KLF4, SLCO1B3, PIK3CD, ACTB, PIK3CA, MMP13, AKT1, APOB, BMP1, BMP4, CAT, CD68, CDKN2A, COCH, HBEGF, EGF, FCGRT, FN1, HMGB1, IGFBP3, IL1A, ITGB1, SMAD3, MMP3, JAG1, MIR145

Drugs

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts, Allogeneic skin-derived ABCB5-positive mesenchymal stem cells, Angiotensin (1-7), Antisense oligonucleotide targeting exon 73 in the COL7A1 gene, Autologous genetically modified human dermal fibroblasts, Autologous skin equivalent graft composed of keratinocytes and fibroblasts genetically corrected by CRISPR/Cas9-mediated excision of mutation-carrying COL7A1 exon 80, Bilayer engineered skin composed of keratinocytes (patient autologous) and fibroblasts (donor allogeneic) in a plasma matrix, Diacerein, Dry extract from Betulae cortex (birch bark), Ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene, Ex-vivo-expanded autologous keratinocytes transduced with retroviral vector containing the COL7A1 gene, Expanded Allogeneic Human Dermal Fibroblasts In Hypothermosol(R)-Frs, Human dermal fibroblasts cultured on a bioresorbable polyglactin mesh, Losartan, Recombinant human alpha 1 chain homotrimer of type VII collagen, Recombinant human collagen alpha-1 (VII) chain homo-trimer (rC7), Skin equivalent graft genetically corrected with a COL7A1-encoding SIN retroviral vector, ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL7A1-encoding retroviral vector

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Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

Epidemiology

Less than 100 cases have been reported to date.

Clinical description

The disease manifests at birth or shortly thereafter with generalized blistering and superficial erosions that heal with atrophic scarring and milia formation. After the first years of life, blistering tends to localize to folds, particularly axillae, inframammary folds and the groin, as well as to the base of the neck, the uppermost back, and the lumbosacral and perianal area. Nail dystrophy is typical but of variable severity. Lesions of the oral cavity are always present and can lead to microglossia (loss of lingual papillae and fusion of the tongue to the mouth floor) and ankyloglossia (obliteration of the oral vestibules and progressive restriction of oral aperture). Esophageal involvement is often severe and is associated with a risk of esophageal stricture (10% and 90% by ages 5 and 30, respectively) that can impair intake of nutrients. Lesions of the lowermost portion of the genitourinary tract are also common and may lead to the development of vaginal strictures that may impair normal sexual function. Other less common extracutaneous features are observed and include external auditory canal stenosis with some degree of hearing loss, corneal erosions, and anemia. Growth delay is rare. Patients may develop squamous cell carcinomas, with a cumulative risk reaching 23% by age 50 (U.S. EB national registry) which is much lower than in either of the two generalized subtypes of RDEB (RDEB-sev gen and RDEB-other; see these terms).

Etiology

The disease is caused by mutations in the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or reduced amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma.

Genetic counseling

Transmission is autosomal recessive.