Transient bullous dermolysis of the newborn

General Information (adopted from Orphanet):

Synonyms, Signs: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM
DEB-BDN
DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL
TBDN
DEB, bullous dermolysis of the newborn
Number of Symptoms 22
OrphanetNr: 79411
OMIM Id: 131705
ICD-10: Q81.2
UMLs: C1851573
MeSH: C536979
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Dystrophic epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100825) Cheilitis Frequent [Orphanet] 20 / 7739
2
 (HPO:0008404) Nail dystrophy 89 / 7739
3
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
4
 (HPO:0008066) Abnormal blistering of the skin 20 / 7739
5
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
6
 (HPO:0001030) Fragile skin 25 / 7739
7
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
8
 (HPO:0001056) Milia 24 / 7739
9
 (HPO:0001075) Atrophic scars 15 / 7739
10
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
11
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
12
 (OMIM) Anchoring fibrils revert to normal with clinical resolution of the disease 1 / 7739
13
 (OMIM) Hypotrophic anchoring fibrils 5 / 7739
14
 (OMIM) Mild atrophic scarring 1 / 7739
15
 (OMIM) Retention of COL7A1 within endoplasmic reticulum in epidermal keratinocytes 1 / 7739
16
 (OMIM) Sublamina densa level of tissue separation beneath basal membrane 5 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Decreased number of anchoring fibrils at dermal-epidermal junction 3 / 7739
19
 (HPO:0003577) Congenital onset 133 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Dystrophic epidermolysis bullosa 6 / 7739
22
 (OMIM) Decreased staining for collagen VII at the dermal-epidermal junction 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Transient bullous dermolysis of the newborn is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but usually improves markedly during early life and even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation ...
Clinical Description OMIM Hashimoto et al. (1985) first described this disorder in an African American male delivered by cesarean section who developed large bullae on his extremities and in other friction areas soon after birth. The bullae healed rapidly, leaving hypopigmentation, ...
Molecular genetics OMIM In affected members of a family with autosomal dominant transient bullous dermolysis of the newborn reported by Fine et al. (1993), Christiano et al. (1997) identified a heterozygous mutation in the COL7A1 gene (120120.0039).

In a ...