Lethal acantholytic epidermolysis bullosa

General Information (adopted from Orphanet):

Synonyms, Signs: EBLA
LAEB
Number of Symptoms 26
OrphanetNr: 158687
OMIM Id: 609638
ICD-10: Q81.0
UMLs: C1864826
MeSH: C535493
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Suprabasal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001741) Phimosis 5 / 7739
2
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
3
 (HPO:0000695) Natal tooth Very frequent [Orphanet] 42 / 7739
4
 (HPO:0009884) Tapered distal phalanges of finger 4 / 7739
5
 (HPO:0008094) Widely spaced toes 2 / 7739
6
 (HPO:0001852) Sandal gap 63 / 7739
7
 (HPO:0004057) Mitten deformity 3 / 7739
8
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
9
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
10
 (HPO:0200041) Skin erosion 2 / 7739
11
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
12
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
13
 (HPO:0001798) Anonychia 28 / 7739
14
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
15
 (HPO:0100792) Acantholysis 11 / 7739
16
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
17
 (HPO:0003811) Neonatal death 44 / 7739
18
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (OMIM) Cutis aplasia 2 / 7739
21
 (OMIM) Progressive generalized skin erosions 1 / 7739
22
 (OMIM) Nail loss 1 / 7739
23
 (OMIM) Suprabasal clefting 1 / 7739
24
 (OMIM) Phimosis, secondary to epidermolysis 1 / 7739
25
 (OMIM) Disconnection of keratin intermediate filaments from desmosomes 1 / 7739
26
 (OMIM) Universal alopecia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jonkman et al. (2005) described a male infant with severe fragility of skin and mucous membranes in whom rapidly progressive generalized epidermolysis had begun during delivery. The area of epidermolysis progressed from 30% to 70% within the first ...
Molecular genetics OMIM The observation in their patient that the keratin intermediate filaments were disconnected from the inner dense plaque, similar to desmoplakin knockout mice and patients with skin fragility-woolly hair syndrome (607655), led Jonkman et al. (2005) to screen the ...