MCID: RCS008
MIFTS: 27

Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Categories: Cancer diseases, Oral diseases, Rare diseases, Skin 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 20 29
Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Mitis 20
Autosomal Recessive Dystrophic Epidermolysis Bullosa, Generalized Other 20
Recessive Dystrophic Epidermolysis Bullosa, Non-Hallopeau-Siemens Type 20
Recessive Dystrophic Epidermolysis Bullosa, Generalized Intermediate 20
Rdeb, Non-Hallopeau-Siemens Type 20
Rdeb, Generalized Intermediate 20
Rdeb Generalisata Mitis 20
Generalized Mitis Rdeb 20
Rdeb-Generalized Other 20
Rdeb-O 20

Classifications:



Summaries for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 89842 Definition Recessive 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. Epidemiology Its 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 description Under 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). Etiology The 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 methods Diagnosis 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 diagnosis The 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 diagnosis DNA -based prenatal diagnosis is possible for at risk pregnancies. Genetic counseling Transmission is autosomal recessive. Management and treatment Management 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. Prognosis In 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.

MalaCards based summary : Recessive Dystrophic Epidermolysis Bullosa-Generalized Other, also known as autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, is related to autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form. Affiliated tissues include skin and skeletal muscle, and related phenotypes are anemia and atypical scarring of skin

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Diseases related to Recessive Dystrophic Epidermolysis Bullosa-Generalized Other via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 11.6

Symptoms & Phenotypes for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

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

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 anemia 31 hallmark (90%) HP:0001903
2 atypical scarring of skin 31 hallmark (90%) HP:0000987
3 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
4 fragile skin 31 hallmark (90%) HP:0001030
5 abnormal circulating selenium concentration 31 hallmark (90%) HP:0031903
6 failure to thrive 31 frequent (33%) HP:0001508
7 dysphagia 31 frequent (33%) HP:0002015
8 constipation 31 frequent (33%) HP:0002019
9 carious teeth 31 frequent (33%) HP:0000670
10 gastroesophageal reflux 31 frequent (33%) HP:0002020
11 skeletal muscle atrophy 31 frequent (33%) HP:0003202
12 irregular hyperpigmentation 31 frequent (33%) HP:0007400
13 low levels of vitamin d 31 frequent (33%) HP:0100512
14 hypoalbuminemia 31 frequent (33%) HP:0003073
15 skin erosion 31 frequent (33%) HP:0200041
16 milia 31 frequent (33%) HP:0001056
17 recurrent skin infections 31 frequent (33%) HP:0001581
18 esophageal stricture 31 frequent (33%) HP:0002043
19 decreased serum iron 31 frequent (33%) HP:0040303
20 malnutrition 31 frequent (33%) HP:0004395
21 decreased plasma carnitine 31 frequent (33%) HP:0003234
22 decreased serum zinc 31 frequent (33%) HP:0031831
23 chronic cutaneous wound 31 frequent (33%) HP:0032676
24 depressivity 31 occasional (7.5%) HP:0000716
25 flexion contracture 31 occasional (7.5%) HP:0001371
26 delayed puberty 31 occasional (7.5%) HP:0000823
27 anxiety 31 occasional (7.5%) HP:0000739
28 nevus 31 occasional (7.5%) HP:0003764
29 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
30 narrow mouth 31 occasional (7.5%) HP:0000160
31 nail dysplasia 31 occasional (7.5%) HP:0002164
32 corneal erosion 31 occasional (7.5%) HP:0200020
33 gastrostomy tube feeding in infancy 31 occasional (7.5%) HP:0011471
34 visual loss 31 occasional (7.5%) HP:0000572
35 aplasia cutis congenita 31 occasional (7.5%) HP:0001057
36 absent toenail 31 occasional (7.5%) HP:0001802
37 ankyloglossia 31 occasional (7.5%) HP:0010296
38 mitten deformity 31 occasional (7.5%) HP:0004057
39 anal fissure 31 occasional (7.5%) HP:0012390
40 squamous cell carcinoma 31 very rare (1%) HP:0002860

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:

40
Skin, Skeletal Muscle

Publications for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Articles related to Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

# Title Authors PMID Year
1
Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen. 61
22070715 2011

Variations for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other

Cosmic variations for Recessive Dystrophic Epidermolysis Bullosa-Generalized Other:

9 (show top 50) (show all 995)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122734157 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.164G>A p.G55D 17:7674971-7674971 4
2 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
3 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 4
4 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 4
5 COSM144652296 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.469C>T p.R157* 17:7674945-7674945 4
6 COSM121899015 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.163+2T>A p.? 17:7675051-7675051 4
7 COSM145025490 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.682C>T p.R228W 17:7673821-7673821 4
8 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 4
9 COSM93228649 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 4
10 COSM142560348 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.605C>T p.S202F 17:7674241-7674241 4
11 COSM145018520 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.461A>T p.H154L 17:7674953-7674953 4
12 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 4
13 COSM122271355 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.305A>G p.Y102C 17:7674262-7674262 4
14 COSM143174513 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.344T>C p.V115A 17:7673799-7673799 4
15 COSM144311933 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 4
16 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 4
17 COSM143944858 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.109C>T p.R37* 17:7674945-7674945 4
18 COSM143950313 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.322C>T p.R108W 17:7673821-7673821 4
19 COSM112415277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 4
20 COSM144120595 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.247T>G p.C83G 17:7674239-7674239 4
21 COSM143944164 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.340C>T p.R114C 17:7673803-7673803 4
22 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 4
23 COSM87923542 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 4
24 COSM144679872 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.239C>T p.A80V 17:7676013-7676013 4
25 COSM112255322 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 4
26 COSM143372968 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 4
27 COSM142837664 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 4
28 COSM143944281 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 4
29 COSM122273553 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.241C>T p.R81* 17:7674894-7674894 4
30 COSM143389462 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.418C>A p.H140N 17:7675077-7675077 4
31 COSM111760544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 4
32 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 4
33 COSM145017624 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.443G>A p.G148D 17:7674971-7674971 4
34 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
35 COSM121878773 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.241C>T p.R81* 17:7674894-7674894 4
36 COSM122750905 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 4
37 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 4
38 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 4
39 COSM143946062 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 4
40 COSM122288277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 4
41 COSM121877621 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.190C>T p.R64* 17:7674945-7674945 4
42 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 4
43 COSM144311120 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.469C>T p.R157* 17:7674945-7674945 4
44 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 4
45 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 4
46 COSM122272676 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.190C>T p.R64* 17:7674945-7674945 4
47 COSM144310011 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.584A>G p.Y195C 17:7674262-7674262 4
48 COSM112253591 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560G>A p.G187D 17:7674971-7674971 4
49 COSM122271632 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.326C>T p.S109F 17:7674241-7674241 4
50 COSM143163130 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.322C>T p.R108W 17:7673821-7673821 4

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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