TBDN
MCID: TRN029
MIFTS: 29

Transient Bullous Dermolysis of the Newborn (TBDN)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Transient Bullous Dermolysis of the Newborn

MalaCards integrated aliases for Transient Bullous Dermolysis of the Newborn:

Name: Transient Bullous Dermolysis of the Newborn 57 53 59 75 37 29 6 40 73
Tbdn 57 53 75
Transient Bullous of the Newborn 57 13
Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form 53
Epidermolysis Bullosa Dystrophica Dominant Neonatal Type 75
Epidermolysis Bullosa Dystrophica, Neonatal Form 57
Dystrophic Epidermolysis Bullosa, Neonatal 57
Deb, Bullous Dermolysis of the Newborn 59
Deb-Bdn 59

Characteristics:

Orphanet epidemiological data:

59
transient bullous dermolysis of the newborn
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset at birth
skin lesions resolve between 6 months and 2 years of age
some patients have milder persistent blistering


HPO:

32
transient bullous dermolysis of the newborn:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 131705
Orphanet 59 ORPHA79411
UMLS via Orphanet 74 C1851573
ICD10 via Orphanet 34 Q81.2
MESH via Orphanet 45 C536979
MedGen 42 C1851573
MeSH 44 D016108
KEGG 37 H00763
UMLS 73 C1851573

Summaries for Transient Bullous Dermolysis of the Newborn

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79411Disease definitionTransient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.EpidemiologyPrevalence is unknown. Less than 30 cases have been reported to date.Clinical descriptionThe disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Healing of blisters is associated with mild, mostly atrophic, scarring and milia formation. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Ultrastructurally, the presence in basal keratinocytes of peculiar cytoplasmic inclusions, known as stellate bodies, filled with unsecreted procollagen VII, is typical of the disease.EtiologyTransient bullous dermolysis of the newborn is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis.Genetic counselingThe condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Transient Bullous Dermolysis of the Newborn, also known as tbdn, is related to nail disorder, nonsyndromic congenital, 8 and epidermolysis bullosa dystrophica. An important gene associated with Transient Bullous Dermolysis of the Newborn is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are nail dystrophy and abnormal blistering of the skin

OMIM : 57 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 of type VII collagen, which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation (summary by Fassihi et al., 2005). (131705)

UniProtKB/Swiss-Prot : 75 Transient bullous dermolysis of the newborn: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life.

Wikipedia : 76 Transient bullous dermolysis of the newborn (TBDN) is a skin condition that presents in newborns. It is... more...

Related Diseases for Transient Bullous Dermolysis of the Newborn

Diseases related to Transient Bullous Dermolysis of the Newborn via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 8 11.4
2 epidermolysis bullosa dystrophica 10.2
3 epidermolysis bullosa 10.2
4 pyloric atresia 10.2

Symptoms & Phenotypes for Transient Bullous Dermolysis of the Newborn

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Skin Electron Microscopy:
sublamina densa level of tissue separation beneath basal membrane
decreased number of anchoring fibrils at dermal-epidermal junction
hypotrophic anchoring fibrils
retention of col7a1 within endoplasmic reticulum in epidermal keratinocytes
decreased staining for collagen vii at the dermal-epidermal junction
more
Skin Nails Hair Skin:
milia
epidermolysis bullosa, dystrophic
skin fragility
blisters
mild atrophic scarring


Clinical features from OMIM:

131705

Human phenotypes related to Transient Bullous Dermolysis of the Newborn:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
2 abnormal blistering of the skin 59 32 Very frequent (99-80%) HP:0008066
3 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
4 oral mucosal blisters 59 32 frequent (33%) Frequent (79-30%) HP:0200097
5 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
6 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
7 abnormality of metabolism/homeostasis 32 HP:0001939
8 fragile skin 32 HP:0001030

Drugs & Therapeutics for Transient Bullous Dermolysis of the Newborn

Search Clinical Trials , NIH Clinical Center for Transient Bullous Dermolysis of the Newborn

Genetic Tests for Transient Bullous Dermolysis of the Newborn

Genetic tests related to Transient Bullous Dermolysis of the Newborn:

# Genetic test Affiliating Genes
1 Transient Bullous Dermolysis of the Newborn 29 COL7A1

Anatomical Context for Transient Bullous Dermolysis of the Newborn

MalaCards organs/tissues related to Transient Bullous Dermolysis of the Newborn:

41
Skin

Publications for Transient Bullous Dermolysis of the Newborn

Articles related to Transient Bullous Dermolysis of the Newborn:

(show all 12)
# Title Authors Year
1
Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene. ( 25800346 )
2015
2
Novel COL7A1 mutations in a Japanese family with transient bullous dermolysis of the newborn associated with pseudosyndactyly. ( 17501948 )
2007
3
Transient bullous dermolysis of the newborn in three generations. ( 16225626 )
2005
4
Three new cases of transient bullous dermolysis of the newborn. ( 10071321 )
1999
5
Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. ( 9856844 )
1998
6
Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. ( 9406826 )
1997
7
Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. ( 8204486 )
1994
8
Transient bullous dermolysis of the newborn: new pathologic findings. ( 8267724 )
1993
9
Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis. ( 1487571 )
1992
10
Transient bullous dermolysis of the newborn. Case report and review of pathogenesis. ( 1761784 )
1991
11
Transient bullous dermolysis of the newborn: two additional cases. ( 2681282 )
1989
12
Transient bullous dermolysis of the newborn. ( 3901931 )
1985

Variations for Transient Bullous Dermolysis of the Newborn

UniProtKB/Swiss-Prot genetic disease variations for Transient Bullous Dermolysis of the Newborn:

75
# Symbol AA change Variation ID SNP ID
1 COL7A1 p.Gly1519Asp VAR_011161 rs121912835
2 COL7A1 p.Gly2251Glu VAR_011189 rs121912834

ClinVar genetic disease variations for Transient Bullous Dermolysis of the Newborn:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL7A1 NM_000094.3(COL7A1): c.6752G> A (p.Gly2251Glu) single nucleotide variant Pathogenic rs121912834 GRCh37 Chromosome 3, 48610374: 48610374
2 COL7A1 NM_000094.3(COL7A1): c.6752G> A (p.Gly2251Glu) single nucleotide variant Pathogenic rs121912834 GRCh38 Chromosome 3, 48572941: 48572941
3 COL7A1 NM_000094.3(COL7A1): c.4556G> A (p.Gly1519Asp) single nucleotide variant Pathogenic rs121912835 GRCh37 Chromosome 3, 48620049: 48620049
4 COL7A1 NM_000094.3(COL7A1): c.4556G> A (p.Gly1519Asp) single nucleotide variant Pathogenic rs121912835 GRCh38 Chromosome 3, 48582616: 48582616
5 COL7A1 COL7A1, IVS35AS, G-C, -1 single nucleotide variant Pathogenic
6 COL7A1 NM_000094.3(COL7A1): c.4565G> A (p.Gly1522Glu) single nucleotide variant Pathogenic rs387906605 GRCh37 Chromosome 3, 48619945: 48619945
7 COL7A1 NM_000094.3(COL7A1): c.4565G> A (p.Gly1522Glu) single nucleotide variant Pathogenic rs387906605 GRCh38 Chromosome 3, 48582512: 48582512
8 COL7A1 NM_000094.3(COL7A1): c.3840delC (p.Gly1281Valfs) deletion Pathogenic rs757688782 GRCh37 Chromosome 3, 48623044: 48623044
9 COL7A1 NM_000094.3(COL7A1): c.3840delC (p.Gly1281Valfs) deletion Pathogenic rs757688782 GRCh38 Chromosome 3, 48585611: 48585611

Expression for Transient Bullous Dermolysis of the Newborn

Search GEO for disease gene expression data for Transient Bullous Dermolysis of the Newborn.

Pathways for Transient Bullous Dermolysis of the Newborn

GO Terms for Transient Bullous Dermolysis of the Newborn

Sources for Transient Bullous Dermolysis of the Newborn

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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