1993
DOI: 10.1001/archderm.129.10.1310
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Dermatosparaxis in children. A case report and review of the newly recognized phenotype

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Cited by 26 publications
(11 citation statements)
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“…It is caused by homozygous or compound heterozygous mutations in the gene encoding procollagen I N-terminal peptidase and results in deficiency of this enzyme. [16][17][18] Electron microscopy of dermal collagen shows heiroglyphic fibrils.…”
Section: Dermatosparaxis Type (Viic)mentioning
confidence: 99%
“…It is caused by homozygous or compound heterozygous mutations in the gene encoding procollagen I N-terminal peptidase and results in deficiency of this enzyme. [16][17][18] Electron microscopy of dermal collagen shows heiroglyphic fibrils.…”
Section: Dermatosparaxis Type (Viic)mentioning
confidence: 99%
“…Because of a common biosynthetic pathway, it was expected that defects in ADAMTS2 would have broader effects than structural mutations involving individual procollagen chains. Instead, ADAMTS2 mutations lead to a limited clinical syndrome -dermatosparaxis (fragility of skin) in animals and the Ehlers-Danlos syndrome-type VIIC (EDS-VIIC or the dermatosparactic type) in humans Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis 1999; Lapiere and Nusgens, 1993;Nusgens et al, 1992;Petty et al, 1993;Smith et al, 1992;Wertelecki et al, 1992). Collagen fibrils in the dermis of dermatosparactic calves, humans and mice are thin, branched and 'hieroglyphic' on cross-section, instead of being round and of relatively uniform diameter (Li et al, 2001;Nusgens et al, 1992).…”
Section: Introductionmentioning
confidence: 99%
“…To date only seven human cases of EDS dermatosparaxis type have been recorded, most of them being aged under 2 years [Nusgens et al, 1992;Smith et al, 1992;Wertelecki et al, 1992;Petty et al, 1993;Reardon et al, 1995;Fujimoto et al, 1997;Pasch et al, 2000]. There is only one published case reporting on the natural history of the disorder in a 15-year-old girl [Reardon et al, 1995].…”
Section: Introductionmentioning
confidence: 99%