Dermatosparaxis type of Ehlers-Danlos syndrome: case report

Abstract

Background. The dermatosparaxial type of Ehlers-Danlos syndrome (EDSDERMS, VIIC, dEDS) is an extremely rare disorder. To date, 15 patients with this type of Ehlers-Danlos syndrome are known worldwide. The purpose was to improve knowledge and spread data about the orphan connective tissue di­sease — dEDS — on the example of a patient from a family in which the father and two sons have the same type of lesions. Materials and methods. We report a 6-year-old patient as well as his father and sibling with clinical symptoms of the dEDS, which we diagnosed based on the main diagnostic criteria: extreme skin fragi­lity, craniofacial features, superficial skin trauma, wrinkling of the palms, especially when they are exposed to water for a long time, and a tendency to ecchymosis with a risk of subcutaneous hematomas and bleeding. Secondary diagnostic criteria were represen­ted by atrophic scars, refractive errors (myopia), gingival margi­nal dysplasia, hypermobility of the finger and knee joints. The informed consent of the patient’s parents was obtained for the exa­mination and publication of information, and the parents agreed to the publication of clinical photographs. Results. After laboratory and instrumental studies and consultations with related specialists (hematologist, geneticist, cardiologist, pediatrician, orthopedist, dermatologist), we excluded such diseases as Marfan syndrome, MASS-phenotype, congenital coagulopathies and thrombocytopathies, hemophilia, isolated vascular pathologies, as well as other types of Ehlers-Danlos syndrome and identified dEDS in the patient only clinically. Genetic testing did not reveal any pathological mutations or exonic deletions/duplications. The negative result of genetic testing in dEDS is due to the fact that certain types of mutations (e.g., deep intronic mutations) cannot always be detec­ted by standard diagnostic genetic methods. Conclusions. It is possible to establish a diagnosis based on clinical symptoms, but an extended mutation search is mandatory for the entire family.