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Transient bullous dermolysis of the newborn in three generations.

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Transient bullous dermolysis of the newborn in three generations. / Fassihi, H; Diba, V C; Wessagowit, V; Dopping-Hepenstal, P J C; Jones, C A; Burrows, N P; McGrath, J A.

In: British Journal of Dermatology, Vol. 153, No. 5, 11.2005, p. 1058 - 1063.

Research output: Contribution to journalArticlepeer-review

Harvard

Fassihi, H, Diba, VC, Wessagowit, V, Dopping-Hepenstal, PJC, Jones, CA, Burrows, NP & McGrath, JA 2005, 'Transient bullous dermolysis of the newborn in three generations.', British Journal of Dermatology, vol. 153, no. 5, pp. 1058 - 1063. https://doi.org/10.1111/j.1365-2133.2005.06873.x

APA

Fassihi, H., Diba, V. C., Wessagowit, V., Dopping-Hepenstal, P. J. C., Jones, C. A., Burrows, N. P., & McGrath, J. A. (2005). Transient bullous dermolysis of the newborn in three generations. British Journal of Dermatology, 153(5), 1058 - 1063. https://doi.org/10.1111/j.1365-2133.2005.06873.x

Vancouver

Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJC, Jones CA, Burrows NP et al. Transient bullous dermolysis of the newborn in three generations. British Journal of Dermatology. 2005 Nov;153(5):1058 - 1063. https://doi.org/10.1111/j.1365-2133.2005.06873.x

Author

Fassihi, H ; Diba, V C ; Wessagowit, V ; Dopping-Hepenstal, P J C ; Jones, C A ; Burrows, N P ; McGrath, J A. / Transient bullous dermolysis of the newborn in three generations. In: British Journal of Dermatology. 2005 ; Vol. 153, No. 5. pp. 1058 - 1063.

Bibtex Download

@article{75dc0ea6bc6b41eb8c3d4c7b71a13c4c,
title = "Transient bullous dermolysis of the newborn in three generations.",
abstract = "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",
author = "H Fassihi and Diba, {V C} and V Wessagowit and Dopping-Hepenstal, {P J C} and Jones, {C A} and Burrows, {N P} and McGrath, {J A}",
year = "2005",
month = nov,
doi = "10.1111/j.1365-2133.2005.06873.x",
language = "English",
volume = "153",
pages = "1058 -- 1063",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "John Wiley & Sons, Ltd (10.1111)",
number = "5",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Transient bullous dermolysis of the newborn in three generations.

AU - Fassihi, H

AU - Diba, V C

AU - Wessagowit, V

AU - Dopping-Hepenstal, P J C

AU - Jones, C A

AU - Burrows, N P

AU - McGrath, J A

PY - 2005/11

Y1 - 2005/11

N2 - 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

AB - 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

U2 - 10.1111/j.1365-2133.2005.06873.x

DO - 10.1111/j.1365-2133.2005.06873.x

M3 - Article

VL - 153

SP - 1058

EP - 1063

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 5

ER -

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