Junctional epidermolysis bullosa, Herlitz type

General Information (adopted from Orphanet):

Synonyms, Signs: HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE
JEB-HERLITZ TYPE
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz-Pearson type
epidermolysis bullosa letalis
Number of Symptoms 32
OrphanetNr: 79404
OMIM Id: 226700
ICD-10: Q81.1
UMLs:
MeSH:
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: Hereditary epidermolysis bullosa associated with ocular features
 -Rare eye disease
 -Rare genetic disease
Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Frequent [Orphanet] 47 / 7739
2
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
3
 (HPO:0000670) Carious teeth 145 / 7739
4
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
5
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
6
 (HPO:0002021) Pyloric stenosis 51 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0001508) Failure to thrive 454 / 7739
9
 (HPO:0001056) Milia 24 / 7739
10
 (HPO:0001806) Onycholysis Occasional [Orphanet] 20 / 7739
11
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
12
 (HPO:0002164) Nail dysplasia 82 / 7739
13
 (HPO:0003341) Junctional split 2 / 7739
14
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
15
 (HPO:0007383) Congenital localized absence of skin 2 / 7739
16
 (HPO:0008404) Nail dystrophy 89 / 7739
17
 (HPO:0001075) Atrophic scars 15 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
19
 (HPO:0001944) Dehydration Frequent [Orphanet] 59 / 7739
20
 (OMIM) Oral mucosal lesions 2 / 7739
21
 (OMIM) Hemidesmosomal abnormalities 1 / 7739
22
 (OMIM) Syndactyly does not occur 1 / 7739
23
 (HPO:0003577) Congenital onset 133 / 7739
24
 (OMIM) Absence of immunostaining to laminin 5 subunits 1 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Atrophic scarring 9 / 7739
27
 (OMIM) Exuberant granulation tissue 1 / 7739
28
 (OMIM) Perinasal or perioral nonhealing crusting of the skin 1 / 7739
29
 (OMIM) Loss of nails 3 / 7739
30
 (OMIM) Skin cleavage in the lamina lucida 1 / 7739
31
 (OMIM) Severe bullous blistering lesions 1 / 7739
32
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Junctional epidermolysis bullosa is an autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane. Fine et al. (2000, 2008) proposed classification of the different types of JEB ...
Diagnosis OMIM - Prenatal Diagnosis

Anton-Lamprecht (1981) showed that this disorder can be diagnosed or excluded prenatally by electron microscopic examination of fetal skin biopsy. Hausser and Anton-Lamprecht (1990) demonstrated that amnion membranes can also be used for ...
Clinical Description OMIM Roberts et al. (1960) described 3 cases in branches of a large consanguineous French Canadian family from Nova Scotia in which infants were born with bullous lesions and died at 20, 24, and 42 days, respectively, despite meticulous ...
Genotype-Phenotype Correlations OMIM In a study of 12 patients with Herlitz junctional EB, Muhle et al. (2005) observed that the 4 patients who survived longer than 6 months were females who were homozygous for the R635X mutation of the LAMB3 gene ...
Molecular genetics OMIM - Mutations in the LAMA3 Gene

In a patient with Herlitz JEB, Vidal et al. (1995) identified a homozygous mutation in the LAMA3 gene (600805.0001). The patient's parents were related as first cousins. Skin biopsies showed ...
Population genetics OMIM Nakano et al. (2000) calculated the carrier frequency of Herlitz type junctional EB and all forms of junctional EB from the incidence data presented by Fine et al. (1999). In the general U.S. population, the carrier risk was ...