MCID: RCS008
MIFTS: 22

Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Categories: Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

MalaCards integrated aliases for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

Name: Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 53 59
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Mitis 53 59
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Generalized Other 53 59
Recessive Dystrophic Epidermolysis Bullosa, Non-Hallopeau-Siemens Type 53 59
Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate 53 59
Rdeb, Non-Hallopeau-Siemens Type 53 59
Rdeb, Generalized Intermediate 53 59
Rdeb Generalisata Mitis 53 59
Generalized Mitis Rdeb 53 59
Rdeb-Generalized Other 53 59
Rdeb-O 53 59
Recessive Dystrophic Epidermolysis Bullosa, Generalized, Other 29

Characteristics:

Orphanet epidemiological data:

59
recessive dystrophic epidermolysis bullosa, generalized intermediate
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



Summaries for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 89842Disease definitionRecessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.EpidemiologyIts exact prevalence is unknown but this sub-type represents the second most common RDEB, the first one being severe generalized RDEB (RDEB- sev gen; see this term). The prevalence of all RDEB sub-types, with the exclusion of RDEB-sev gen, has been estimated at 1/2,040,816 in the United States.Clinical descriptionUnder the term RDEB-other are grouped a spectrum of phenotypes, showing highly variable severity of the cutaneous and mucosal involvement. The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita (congenital absence of the skin) can also be observed at birth. Healing of blisters results in the development of milia, atrophic scarring (less severe than in RDEB- sev gen), dystrophic nails, and, occasionally, albopapuloid lesions (ivory-white colored scar-like papules) and scalp abnormalities. In some patients, the scarring phenomena can lead to a certain degree of pseudosyndactyly and loss of nail plates. Extracutaneous involvement is similar but less severe than in severe generalized RDEB with no hand/foot deformities associated with this disease. Oral cavity lesions and excessive dental caries are common. Patients have a lower risk of esophageal strictures and corneal injury than RDEB-sev gen. Growth delay and anemia are uncommon. Genitourinary tract involvement is rare. Patients have an increased risk of developing squamous cell carcinomas (35.8% by age 50 according to the U.S. EB national registry).EtiologyThe disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the 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.Diagnostic methodsDiagnosis is suspected at clinical examination and is confirmed by immunofluorescence antigen mapping and/or transmission electron microscopy on skin samples showing a cleavage plane located below the lamina densa of the cutaneous basement membrane zone. Genetic testing confirms the diagnosis.Differential diagnosisThe differential diagnosis includes other forms of EB. In the neonatal period, aplasia cutis congenita, herpes simplex infection, congenital erosive and vesicular dermatosis, epidermolytic ichthyosis, linear IgA bullous dermatosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis, bullous impetigo, and staphylococcal scalded skin syndrome (see these terms) may need to be considered.Antenatal diagnosisDNA-based prenatal diagnosis is possible for at risk pregnancies.Genetic counselingTransmission is autosomal recessive.Management and treatmentManagement is preventive: protective padding of the skin reduces blistering and careful wound care prevents secondary infection and reduces scarring. Oral hygiene is important for management of caries. Nutritional requirements should be evaluated by a dietitian. Esophageal strictures are treated by balloon dilatation with fluoroscopic guidance. A regular follow-up is necessary for the surveillance of SCC. The treatment of SCC is surgical and involves full-thickness excision with wide margins.PrognosisIn most cases, life expectancy is normal. However, there is an increased risk of development of metastasizing squamous cell carcinomas with a cumulative risk of mortality of 21.5% by age 55 according to the U.S. EB national registry.Visit the Orphanet disease page for more resources.

MalaCards based summary : Recessive Dystrophic Epidermolysis Bullosa-Generalized Other, is also known as autosomal recessive dystrophic epidermolysis bullosa generalisata mitis. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa-Generalized Other is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, testes and eye, and related phenotypes are narrow mouth and visual loss

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Symptoms & Phenotypes for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Human phenotypes related to Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
2 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
3 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
4 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
5 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030
6 milia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001056
7 aplasia cutis congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0001057
8 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
11 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
12 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
13 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
14 esophageal stricture 59 32 frequent (33%) Frequent (79-30%) HP:0002043
15 squamous cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002860
16 mitten deformity 59 32 occasional (7.5%) Occasional (29-5%) HP:0004057
17 abnormality of the anus 59 32 frequent (33%) Frequent (79-30%) HP:0004378
18 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
19 ankyloglossia 59 32 frequent (33%) Frequent (79-30%) HP:0010296
20 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
21 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
22 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037
23 oral mucosal blisters 59 32 frequent (33%) Frequent (79-30%) HP:0200097
24 abnormality of the hair 59 Occasional (29-5%)

Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Search Clinical Trials , NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

# Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa, Generalized, Other 29

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

41
Skin, Testes, Eye

Publications for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Variations for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Expression for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other.

Pathways for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

GO Terms for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Sources for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

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