Junctional epidermolysis bullosa - pyloric atresia

General Information (adopted from Orphanet):

Synonyms, Signs: APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
JEB-PA
EPIDERMYLOSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA
JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
EB-PA-ACC
carmi syndrome
Number of Symptoms 45
OrphanetNr: 79403
OMIM Id: 226730
ICD-10: Q81.8
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: Junctional epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0000071) Ureteral stenosis Occasional [Orphanet] 9 / 7739
2
(HPO:0000119) Abnormality of the genitourinary system 34 / 7739
3
(HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
4
(HPO:0000656) Ectropion 25 / 7739
5
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
6
(HPO:0001371) Flexion contracture 220 / 7739
7
(HPO:0001060) Axillary pterygia 4 / 7739
8
(HPO:0001059) Pterygium Occasional [Orphanet] 16 / 7739
9
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
10
(HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
11
(HPO:0100867) Duodenal stenosis Very frequent [Orphanet] 29 / 7739
12
(HPO:0002041) Intractable diarrhea 4 / 7739
13
(HPO:0004399) Congenital pyloric atresia 3 / 7739
14
(HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
15
(HPO:0002032) Esophageal atresia 19 / 7739
16
(HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
17
(HPO:0003341) Junctional split 2 / 7739
18
(HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
19
(HPO:0001075) Atrophic scars 15 / 7739
20
(HPO:0001056) Milia 24 / 7739
21
(HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
22
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
23
(HPO:0002164) Nail dysplasia 82 / 7739
24
(HPO:0008066) Abnormal blistering of the skin 20 / 7739
25
(HPO:0008404) Nail dystrophy 89 / 7739
26
(HPO:0001798) Anonychia 28 / 7739
27
(HPO:0001030) Fragile skin 25 / 7739
28
(HPO:0001057) Aplasia cutis congenita 7 / 7739
29
(HPO:0005984) Elevated maternal serum alpha-fetoprotein 2 / 7739
30
(OMIM) Pyelonephrosis 1 / 7739
31
(OMIM) Atrophic scarring 9 / 7739
32
(OMIM) Oral lesions 1 / 7739
33
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
(OMIM) Epidermolysis bullosa junctional 1 / 7739
35
(OMIM) Extreme skin fragility 2 / 7739
36
(OMIM) Stenosis at the ureterovesical junctions 1 / 7739
37
(OMIM) Congenital absence of skin on some areas (aplasia cutis) 1 / 7739
38
(OMIM) Esophageal lesions 1 / 7739
39
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
40
(OMIM) Urethrovesical occlusion 1 / 7739
41
(OMIM) Increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus 2 / 7739
42
(OMIM) Hemidesmosomes may be disrupted 2 / 7739
43
(HPO:0003577) Congenital onset 133 / 7739
44
(OMIM) Rudimentary ear 2 / 7739
45
(OMIM) Cleavage occurs within the lamina lucida 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Traditionally, EB-PA has been classified as a form of junctional epidermolysis bullosa. Uitto et al. (1997) and Pulkkinen and Uitto (1998) proposed reclassification of the disorder as a 'hemidesmosomal' variant because ultrastructural findings can indicate cleavage in the ...
Diagnosis OMIM - Prenatal Diagnosis

Nazzaro et al. (1990) made the prenatal diagnosis of JEB-PA by ultrastructural demonstration of dermal-epidermal separation at the lamina lucida level in fetal skin obtained at 18 weeks of gestation. Fetal ultrasound showed ...

Clinical Description OMIM Bull et al. (1980, 1983) reported a sister and brother with epidermolysis bullosa and pyloric atresia at birth. Both died in early infancy of complications related to the skin disorder. An older stillborn sister was probably affected. Both ...
Genotype-Phenotype Correlations OMIM Pulkkinen et al. (1998) identified novel lesions of both ITGB4 alleles in the probands of 5 families with JEB-PA, 2 of them with lethal and 3 of them with nonlethal variants of the disease. Of the 2 patients ...
Molecular genetics OMIM In an infant with JEB-PA, Vidal et al. (1995) demonstrated compound heterozygosity for 2 mutations in the integrin beta-4 gene (147557.0001, 147557.0002).

In a patient with nonlethal JEB-PA and survival until 14 years of age, Chavanas ...

Diagnosis GeneReviews The diagnosis of epidermolysis bullosa with pyloric atresia (EB-PA) is suspected in newborns with the following:...
Clinical Description GeneReviews The course of epidermolysis bullosa with pyloric atresia (EB-PA) is usually severe and often lethal in the neonatal period. Infants with extensive aplasia cutis congenita and blistering or erosions may have fatal infections with sepsis and severe electrolyte imbalance in the first weeks to months of life....
Genotype-Phenotype Correlations GeneReviews The forms of EB-PA with the severest cutaneous manifestations are caused by a mutation on each allele that results in a premature termination codon, although a number of amino acid substitutions also result in a severe phenotype, such as the recurrent ITGB4 mutation p.Cys61Tyr in Hispanic individuals with EB-PA [Varki et al 2006]....
Differential Diagnosis GeneReviews Pyloric atresia. In contrast to pyloric stenosis, which presents insidiously with vomiting, pyloric atresia is present at birth and causes complete obstruction of the gastric outlet. The diagnosis of epidermolysis bullosa with pyloric atresia (EB-PA) should be considered in every neonate with pyloric atresia regardless of the degree of skin blistering. ...
Management GeneReviews To establish the extent of disease and needs in an individual diagnosed with epidermolysis bullosa with pyloric atresia (EB-PA), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....