Ehlers-Danlos type VII-C, or human dermatosparaxis. The offspring of a union between basic and clinical research. | Semantic Scholar (2025)

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@article{Lapire1993EhlersDanlosTV, title={Ehlers-Danlos type VII-C, or human dermatosparaxis. The offspring of a union between basic and clinical research.}, author={Ch. M. Lapi{\`e}re and Betty V. Nusgens}, journal={Archives of dermatology}, year={1993}, volume={129 10}, pages={ 1316-9 }, url={https://api.semanticscholar.org/CorpusID:37435741}}
  • C. Lapière, B. Nusgens
  • Published in Archives of Dermatology 1 October 1993
  • Medicine

Nine types of Ehlers-Danlos syndrome can be defined at the present time, with a disease characterized by extreme joint laxity that Haas and Haas had already suggested in 1958 should be considered a clinical entity called arthrochalasis multiplex congenita .

23 Citations

Highly Influential Citations

1

Background Citations

6

23 Citations

Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers–Danlos syndrome
    R. SimonS. Kiener G. Lühken

    Medicine

    G3

  • 2023

The identified ADAMTS2 variant is identified as pathogenic and most likely causative variant for the observed Ehlers–Danlos syndrome.

Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers–Danlos Syndrome
    J. JaffeyG. Bullock G. Johnson

    Medicine

    Genes

  • 2022

The spectrum of clinical features of the canine dermatosparactic subtype of EDS is expanded and the potential utility of subclassifying canine EDS by the identity of gene harboring the causal variant is illustrated.

Dermatosparaxis in two Limousin calves
    C. I. CartyAlison M. Lee J. Cassidy

    Medicine

    Irish Veterinary Journal

  • 2016

This is the first report of dermatosparaxis in the Limousin breed and the presentation of the dermatosParaxis phenotype has some noteworthy features thus further genetic testing is required to pinpoint the causative mutation or other genetic defect.

  • 5
  • PDF
ADAMTS Revenge on Eve?
    E. FeistG. Burmester

    Medicine

    The Journal of Rheumatology

  • 2010

It again became evident that RA is not uniform, and new efforts have been made to identify markers for stratification of disease, also allowing prediction of response, and biomarkers to predict response are available.

  • 1
  • PDF
Collagenofibrotic glomerulopathy with a widespread expression of type-V collagen
    H. MoritaT. Hasegawa A. Yoshimura

    Medicine

    Virchows Archiv

  • 2002

The clinical course and renal pathology of this case were in accordance with collagenofibrotic glomerulopathy except for the widespread expression of collagen type V, which is a fibrillar collagen capable of forming banding fibrils.

  • 20
The ADAMTS(L) family and human genetic disorders.
    Carine Le GoffV. Cormier-Daire

    Medicine

    Human molecular genetics

  • 2011

The aim of this review was to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations.

  • 102
  • PDF
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I)
    R. WenstrupG. LanglandM. WillingV. D'SouzaW. Cole

    Medicine, Biology

  • 1996

It is reported that genomic polymorphisms at the pro alpha 1(V) gene (COL5A1) locus cosegregated with the gravis form of Ehlers-Danlos syndrome (EDS) (type I) in a three generation family and linkage studies in other EDS I families indicate the disorder is heterogeneous.

  • 92
  • PDF
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).
    R. WenstrupG. LanglandM. WillingV. D'SouzaW. Cole

    Biology, Medicine

    Human molecular genetics

  • 1996
  • 39
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis
    Carine Le GoffR. Somerville S. Apte

    Biology, Medicine

    Development

  • 2006

The data show how evolutionarily related proteases with similar substrate preferences may have distinct biological roles owing to tissue-specific gene expression, and provide insights into collagen biosynthesis and the pathobiology of dermatosparaxis.

  • 112
  • Highly Influenced
  • PDF
Procollagen II Amino Propeptide Processing by ADAMTS-3
    Russell J. FernandesS. Hirohata S. Apte

    Biology, Medicine

    The Journal of Biological Chemistry

  • 2001

It is found that procollagen II is processed normally in dermatosparactic nasal cartilage, suggesting the existence of another N-propeptidase(s) and proposed that ADAMTS-3 is physiologically more relevant, given its preferred expression in cartilage.

  • 227
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37 References

Structure of the Dermis in Type VIIC Ehlers—Danlos Syndrome
    G. PiérardT. Hermanns‐LêJ. Arrese-EstradaC. Piérard‐franchimontC. Lapière

    Medicine

    The American Journal of dermatopathology

  • 1993

The many morphological changes seen in Ehlers—Danlos syndrome, type VIIc, underscore the complexity of cell—matrix interactions in establishing a normal dermis.

  • 15
Ehlers-Danlos syndrome; a clinical and genetic study.
    S. JohnsonH. Falls

    Medicine

    Archives of dermatology and syphilology

  • 1949

The PAUCITY of the literature on the Ehlers-Danlos syndrome in all fields except pediatrics and dermatology would make one believe that the condition has been arrogated by members of these two

  • 92
Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis
    B. NusgensC. Dumoulin C. Lapière

    Medicine, Biology

    Nature Genetics

  • 1992

Evidence for the existence of Ehlers–Danlos syndrome type VII C in humans is presented, characterized by skin fragility, altered polymers seen as hieroglyphic pictures with electron microscopy, accumulation of p–N–α1 and p– N–α2 collagen type I in the dermis and absence of processing of the p-N–I polypeptides in fibroblast cultures.

  • 115
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
    Lynne T. SmithWladimir Wertelecki Byerst

    Medicine

    American journal of human genetics

  • 1992

These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.

  • 95
  • PDF
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
    Elizabeth M. PettyM. SeashoreI. BravermanSydney Z. SpieselLynne T. SmithL. Milstone

    Medicine

    Archives of dermatology

  • 1993

The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae, increased bruisability, micrognathia, umbilical hernia, and growth retardation.

  • 32
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.
    B. SteinmannL. TudermanL. PeltonenG. MartinV. McKusickD. Prockop

    Medicine

    The Journal of biological chemistry

  • 1980
  • 117
  • PDF
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.
    Marina D'AlessioFrancesco Ramirez David W. Hollister

    Biology, Medicine

    American journal of human genetics

  • 1991

A child affected by the type VII form of Ehlers-Danlos syndrome was shown to have a heterozygous structural defect in the amino-terminus of pro-alpha 1(I) collagen, which results in transcripts lacking exon 6 sequences and normally spliced transcripts.

  • 41
Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome
    J. LichtensteinG. MartinL. KohnP. ByersV. McKusick

    Medicine

    Science

  • 1973

Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon, and Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and Procollagen), possibly related to the inability of these cells to convertprocollagen to collagen.

  • 214
Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.
    D. F. CountsP. ByersK. HolbrookG. Hegreberg

    Biology, Medicine

    The Journal of investigative dermatology

  • 1980

A Himalayan cat is identified which has deficient amino terminal procollagen peptidase activity and the disorder in this animal is milder than that in sheep and cattle which is reflected in the longer survival and relatively smaller proportion of pNalpha chains in skin.

  • 62
  • PDF
A mild form of ovine dermatosparaxis.
    J. Ramshaw

    Biology, Medicine

    Collagen and related research

  • 1984
  • 8

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