The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

Reardon, William; Winter, R M; Smith, L T; Lake, B. D.; Rossiter, Margaret W.; Baraitser, M

doi:10.1097/00019605-199501000-00001

Cited by 24 publications

(35 citation statements)

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“…All patients except two (patient 2 and 3 in the present report) were born after premature rupture of the membranes. Facial resemblance in the four patients older than 4 years of age (the present three patients and the patient reported by Reardon et al [1995]) is obvious, characterized by epicanthic folds, blue sclerae, down-slanting palpebral fissures, prominent lips and excessive buccal mucosa (Fig. 4A-D).…”

Section: Discussionsupporting

confidence: 52%

“…There is only one published case reporting on the natural history of the disorder in a 15-year-old girl [Reardon et al, 1995]. We document here the natural history and some unusual features of two earlier reported patients [Nusgens et al, 1992;Pasch et al, 2000] as well as of one new patient in order to illustrate the evolution of this disease in childhood and early puberty.…”

Section: Introductionmentioning

confidence: 54%

“…In the older patients, however, more typical atrophic scarring with pigmentation is seen, probably due to repeated skin tearing, bruising and secondary infections. Reardon et al [1995] Despite the striking similarities, there is some variation in severity of the different clinical symptoms among the patients presented here. Facial dysmorphism, as well as the loose, redundant skin with multiple skin folds on hands and around the ankles, is less obvious in patient 3 than in patient 1 and 2, both at birth and at older age (Figs.…”

Section: Discussionmentioning

confidence: 74%

“…Only seven patients with EDS dermatosparaxis type have been reported so far, most of them aged under 2 years. There is only one report of an adolescent with this disorder [Reardon et al, 1995]. Major problems at age 15 years in this girl (Fig.…”

Section: Discussionmentioning

confidence: 82%

“…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%

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The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

Malfait

Coster

Haußer

et al. 2004

American J of Med Genetics Pt A

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Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.

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Section: Discussionsupporting

confidence: 52%

Section: Introductionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 99%

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The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

Malfait

Coster

Haußer

et al. 2004

American J of Med Genetics Pt A

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Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC

Fujimoto¹,

Wilcox²,

Cohn³

1997

Am. J. Med. Genet.

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Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the amino-terminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30 weeks of gestation following premature rupture of membranes. He had wide fontanelles, prominent eyes with swollen eyelids and blue sclerae, anteverted nostrils, micrognathia, umbilical hernia, short stubby fingers, and cutis laxa with hirsutism. At age 3 months, during the repair of the umbilical hernia, he was noted to have unusual skin fragility. Examination of skin by scanning electron microscopy showed frayed collagen fibrils, and transmission electron microscopy showed the hieroglyphic collagen fibril morphology characteristic of the disorder. As reported in other cases, cultured fibroblasts synthesized type I procollagen that was very poorly processed at the amino-terminal propeptide cleavage site. the 5 known cases of human EDS type VIIC characterize a distinct clinical phenotype, making this condition recognizable at birth before manifestation of severe skin fragility. The diagnosis can be confirmed by biochemical studies of type I procollagen synthesis and by electron microscopic examination of skin.

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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

et al. 1997

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Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional families in which EDS type VII is either dominantly inherited (one family with EDS type VIIB) or due to new dominant mutations (one family with EDS type VIIA and five families with EDS type VIIB). In six families, the mutations alter the consensus splice junctions, and, in the seventh family, the exon is deleted entirely. The COL1A1 mutation produced the most severe phenotypic effects, whereas those in the COL1A2 gene, regardless of the location or effect, produced congenital hip dislocation and other joint instability that was sometimes very marked. Fractures are seen in some people with EDS type VII, consistent with alterations in mineral deposition on collagen fibrils in bony tissues. These new findings expand the array of mutations known to cause EDS type VII and provide insight into genotype/phenotype relationships in these genes.

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The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

Cited by 24 publications

References 0 publications

The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

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