Br J Dermatol. 1988 Jan;118(1):17-26.

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence.

Temple AS, Hinton P, Narcisi P, Pope FM.

Source

MRC Clinical Research Centre, Harrow, Middlesex, U.K.

Abstract

Immunofluorescence showed that cultured skin fibroblasts from 15 out of 17 patients with Ehlers-Danlos syndrome type IV retained abnormal amounts of type III collagen within the cytoplasm. This was not shown by fibroblasts from normal subjects or from patients with other inherited connective tissue diseases. The diagnosis of Ehlers-Danlos syndrome type IV may be facilitated by this finding.

PMID:: 3277658; [PubMed - indexed for MEDLINE]

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Collagen

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Patients with Ehlers-Danlos syndrome type IV lack type III collagen. [Proc Natl Acad Sci U S A. 1975]
Patients with Ehlers-Danlos syndrome type IV lack type III collagen.
Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Gerson B, Rowe DW, McKusick VA. Proc Natl Acad Sci U S A. 1975 Apr; 72(4):1314-6.
[Collagen type I, III, IV and V and fibronectin in skin biopsies of patients with Ehlers-Danlos syndrome and cutis laxa]. [Arkh Patol. 1988]
[Collagen type I, III, IV and V and fibronectin in skin biopsies of patients with Ehlers-Danlos syndrome and cutis laxa].
Shekhonin BV, Semiachkina AN, Makkaev KhM, Domogatskiĭ SP, Idel'son GL. Arkh Patol. 1988; 50(12):41-8.
Dermal changes in Ehlers-Danlos syndrome. [Clin Genet. 1984]
Dermal changes in Ehlers-Danlos syndrome.
Kobayasi T, Oguchi M, Asboe-Hansen G. Clin Genet. 1984 Jun; 25(6):477-84.
Review Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood. [Pediatr Neurol. 2001]
Review Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood.
Kato T, Hattori H, Yorifuji T, Tashiro Y, Nakahata T. Pediatr Neurol. 2001 Oct; 25(4):336-9.
Review Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII. [Am J Med Genet. 1990]
Review Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.
Hartsfield JK Jr, Kousseff BG. Am J Med Genet. 1990 Dec; 37(4):465-70.

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Cited by 1 PubMed Central article

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. [J Med Genet. 1992]
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, De Paepe A. J Med Genet. 1992 Jun; 29(6):375-80.

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