title: The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
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.
authors.affiliation: Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
authors.forename: Fransiska
authors.initials: F
authors.lastname: Malfait
authors.forename: Peter
authors.initials: P
authors.lastname: De Coster
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
authors.forename: Anthonie J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: Peter
authors.initials: P
authors.lastname: Franck
authors.forename: Alain
authors.initials: A
authors.lastname: Colige
authors.forename: Betty
authors.initials: B
authors.lastname: Nusgens
authors.forename: Luc
authors.initials: L
authors.lastname: Martens
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
mesh_terms: D002648:Child; D002675:Child, Preschool; D020405:Dermis / Q000002:abnormalities / Q000201:enzymology / Q000648:ultrastructure; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D009056:Mouth Abnormalities; D011348:Procollagen N-Endopeptidase / Q000172:deficiency; D014071:Tooth Abnormalities
chemical_list: D011348:Procollagen N-Endopeptidase