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Transient bullous dermolysis of the newborn(TBDN)

MedGen UID:
343607
Concept ID:
C1851573
Disease or Syndrome
Synonyms: DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL; Epidermolysis bullosa dystrophica, dominant neonatal form; EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM; TBDN
SNOMED CT: Transient bullous dermolysis of newborn (723553000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL7A1 (3p21.31)
 
Monarch Initiative: MONDO:0007548
OMIM®: 131705
Orphanet: ORPHA79411

Disease characteristics

Excerpted from the GeneReview: Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB. [from GeneReviews]
Authors:
Ellen G Pfendner  |  Anne W Lucky   view full author information

Additional description

From OMIM
Transient bullous dermolysis of the newborn (TBDN) 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).  http://www.omim.org/entry/131705

Clinical features

From HPO
Atrophic scars
MedGen UID:
57875
Concept ID:
C0162154
Pathologic Function
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransient bullous dermolysis of the newborn
Follow this link to review classifications for Transient bullous dermolysis of the newborn in Orphanet.

Recent clinical studies

Etiology

Tsai YC, Tu WT, Su CL, Cheng YW, Chi PL, Hsu CK, Chen YY
Wound Repair Regen 2024 Jul-Aug;32(4):511-516. Epub 2024 Feb 28 doi: 10.1111/wrr.13159. PMID: 38415502
Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L
J Invest Dermatol 1998 Dec;111(6):1214-9. doi: 10.1046/j.1523-1747.1998.00394.x. PMID: 9856844

Diagnosis

Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, Wang XY, Diao QC
Int J Dermatol 2015 Apr;54(4):438-42. doi: 10.1111/ijd.12704. PMID: 25800346
Oppenheimer J, Hallas D
J Pediatr Health Care 2011 May-Jun;25(3):186-90. Epub 2010 Dec 18 doi: 10.1016/j.pedhc.2010.10.002. PMID: 21514494
Hanson SG, Fine JD, Levy ML
J Am Acad Dermatol 1999 Mar;40(3):471-6. doi: 10.1016/s0190-9622(99)70500-1. PMID: 10071321
Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L
J Invest Dermatol 1998 Dec;111(6):1214-9. doi: 10.1046/j.1523-1747.1998.00394.x. PMID: 9856844
Hashimoto K, Matsumoto M, Iacobelli D
Arch Dermatol 1985 Nov;121(11):1429-38. PMID: 3901931

Therapy

Patrizi A, Pauluzzi P, Vecchi V, Mancini AF
Med Pediatr Oncol 1992;20(6):535-6. doi: 10.1002/mpo.2950200609. PMID: 1331730

Prognosis

Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, Wang XY, Diao QC
Int J Dermatol 2015 Apr;54(4):438-42. doi: 10.1111/ijd.12704. PMID: 25800346
Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA
Br J Dermatol 2005 Nov;153(5):1058-63. doi: 10.1111/j.1365-2133.2005.06873.x. PMID: 16225626
Hanson SG, Fine JD, Levy ML
J Am Acad Dermatol 1999 Mar;40(3):471-6. doi: 10.1016/s0190-9622(99)70500-1. PMID: 10071321
Hammami-Hauasli N, Raghunath M, Küster W, Bruckner-Tuderman L
J Invest Dermatol 1998 Dec;111(6):1214-9. doi: 10.1046/j.1523-1747.1998.00394.x. PMID: 9856844
Christiano AM, Fine JD, Uitto J
J Invest Dermatol 1997 Dec;109(6):811-4. doi: 10.1111/1523-1747.ep12341013. PMID: 9406826

Clinical prediction guides

Shi BJ, Zhu XJ, Liu Y, Hao J, Yan GF, Wang SP, Wang XY, Diao QC
Int J Dermatol 2015 Apr;54(4):438-42. doi: 10.1111/ijd.12704. PMID: 25800346
Christiano AM, Fine JD, Uitto J
J Invest Dermatol 1997 Dec;109(6):811-4. doi: 10.1111/1523-1747.ep12341013. PMID: 9406826
Hashimoto K, Eng AM
J Cutan Pathol 1992 Dec;19(6):496-501. doi: 10.1111/j.1600-0560.1992.tb01603.x. PMID: 1487571

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