Epidermolysis bullosa simplex with muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: EBS-MD
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY
MD-EBS
MDEBS
Limb girdle dystrophy with epidermolysis bullosa simplex
Number of Symptoms 40
OrphanetNr: 257
OMIM Id: 226670
ICD-10: G71.0
Q81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 40 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease
Hereditary epidermolysis bullosa associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Qualitative or quantitative defects of plectin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008661) Urethral stenosis 9 / 7739
2
 (HPO:0000068) Urethral atresia 8 / 7739
3
 (HPO:0012227) Urethral stricture 5 / 7739
4
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
5
 (HPO:0004552) Scarring alopecia of scalp 3 / 7739
6
 (HPO:0000670) Carious teeth 145 / 7739
7
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
8
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
9
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
10
 (HPO:0011859) Punctate keratitis 2 / 7739
11
 (HPO:0000491) Keratitis 21 / 7739
12
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
13
 (HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
14
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
17
 (HPO:0008404) Nail dystrophy 89 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
19
 (HPO:0002164) Nail dysplasia 82 / 7739
20
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
21
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
22
 (HPO:0001056) Milia 24 / 7739
23
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
24
 (HPO:0001903) Anemia 289 / 7739
25
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
26
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
27
 (HPO:0003560) Muscular dystrophy 88 / 7739
28
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
29
 (HPO:0009025) Increased connective tissue 11 / 7739
30
 (OMIM) Muscular dystrophy with variable age of onset (infancy to young adult) 1 / 7739
31
 (OMIM) Minimal or absent scarring 1 / 7739
32
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
 (OMIM) Blistering, generalized, neonatal onset 1 / 7739
34
 (OMIM) Blistering of mucous membranes 1 / 7739
35
 (OMIM) Negative staining with HD121 1 / 7739
36
 (OMIM) Slow weight gain 1 / 7739
37
 (OMIM) Blister plane in lowest portion of basal keratinocytes, just above hemidesmosomes 1 / 7739
38
 (OMIM) Degenerative changes with increased connective tissue 1 / 7739
39
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739
40
 (OMIM) Hypoplastic hemidesmosomes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989).

Fine et al. (1991) reported a revised classification ...
Clinical Description OMIM Niemi et al. (1988) described a Finnish sibship with normal parents and 12 members, of which 2, a brother and sister who survived to adulthood, had the combination of epidermolysis bullosa and muscular dystrophy of the limb-girdle type ...
Genotype-Phenotype Correlations OMIM Shimizu et al. (1999) attempted phenotype-genotype correlations in cases of MD-EBS. Clinical, ultrastructural, immunohistochemical, and molecular features of 4 unrelated Japanese patients were recorded. In addition, 6 cases with defined plectin gene mutations reported in the literature were ...
Molecular genetics OMIM Smith et al. (1996) reported results indicating that mutation in the plectin gene is the cause of autosomal recessive muscular dystrophy associated with epidermolysis bullosa simplex. In affected members of 4 families, absence of plectin was indicated by ...