Document Detail


Transient bullous dermolysis of the newborn in three generations.
MedLine Citation:
PMID:  16225626     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but which usually improves markedly during early life or 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. The reason for the spontaneous clinical improvement is not known, but there is a gradual recovery in type VII collagen secretion from basal keratinocytes to the dermal-epidermal junction, with subsequent improvement or correction of anchoring fibril morphology. In this report, we describe TBDN occurring in three generations of the same family. Blistering occurred only during the first few months after birth, and all affected individuals were found to have a heterozygous glycine substitution mutation in exon 45 of the type VII collagen gene, COL7A1, designated G1522E. This mutation represents the third report of a pathogenic COL7A1 mutation in TBDN. Despite limited understanding of the disease mechanism in TBDN, this distinct form of DEB is important to recognize as it typically has a benign and self-limiting course. However, not all cases of DEB associated with intraepidermal type VII collagen are 'transient'. Genetic counselling in such patients therefore should be guarded until the pathophysiology of TBDN is better understood.
Authors:
H Fassihi; V C Diba; V Wessagowit; P J C Dopping-Hepenstal; C A Jones; N P Burrows; J A McGrath
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The British journal of dermatology     Volume:  153     ISSN:  0007-0963     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2005-10-17     Completed Date:  2006-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1058-63     Citation Subset:  IM    
Affiliation:
Genetic Skin Disease Group, St John's Institute of Dermatology, Guy's, King's and St Thomas' School of Medicine, St Thomas' Hospital, London SE1 7EH, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Collagen Type VII / genetics,  metabolism
Epidermolysis Bullosa Dystrophica / genetics*,  pathology
Fluorescent Antibody Technique, Indirect
Humans
Infant, Newborn
Male
Microscopy, Electron
Mutation
Pedigree
Prognosis
Skin / ultrastructure
Chemical
Reg. No./Substance:
0/Collagen Type VII

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