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The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
- Source :
- American Journal of Medical Genetics. Part A, 131A(1), 18-28. Wiley, AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Publication Year :
- 2004
- Publisher :
- Wiley, 2004.
-
Abstract
- 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.
- Subjects :
- Male
collagen
diagnosis
human dermatosparaxis
ORAL FINDINGS
PHENOTYPE
Tooth discoloration
skin fragility
Medicine and Health Sciences
Child
procollagen IN-proteinase
Genetics (clinical)
Permanent teeth
Ehlers-Danlos syndrome type VIIC
Anatomy
Dermis
ADAMTS2 gene
Osteogenesis imperfecta
natural history
Agenesis
Child, Preschool
dermatosparaxis type
Female
Joint hypermobility
EXPRESSION
medicine.medical_specialty
type I
N-PROTEINASE
stomatognathic system
Microscopy, Electron, Transmission
PROCOLLAGEN
medicine
Microdontia
Humans
DENTAL FINDINGS
clinical variability
BOVINE DERMATOSPARAXIS
NOSOLOGY
business.industry
Tooth Abnormalities
medicine.disease
Dermatology
stomatognathic diseases
Procollagen peptidase
Ehlers–Danlos syndrome
OSTEOGENESIS IMPERFECTA
Face
prognosis
Mouth Abnormalities
business
Procollagen N-Endopeptidase
Ehlers-Danlos syndrome
SKIN
Subjects
Details
- Language :
- Dutch; Flemish
- ISSN :
- 15524833, 15524825, and 01487299
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics. Part A
- Accession number :
- edsair.doi.dedup.....668e8cd12d89b3e3a000f210a5c5fc02