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Clinic and genetic heterogeneity in Ehlers-Danlos syndrome

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: M. Puiu, S. Dragan

Editorial: European Journal of Human Genetics, 2005.


Ehlers-Danlos syndrome (EDS) is a heterogeneous group of hereditable connective tissue disorders characterized by articular hypermobility, skin hyperextensibility, and tissue fragility. EDS type IV being the most life-threatening form. It is characterized by a type III collagen deficiency and this disease involves a col3A1 gene mutation. We report the case of a 47 year-old woman with type IV EDS. The medical history of our patient included multiple spontaneous bone fractures, anomalies of subclavian artery, moderate bruising and rupture of hollow organs such as the intestine and stomach, requiring repeated surgical interventions, generalized joint hypermobility, skin hyperextensibility, chronic joint pain, recurrent joint dislocations, extensive bruising, characteristic facial appearance, varicose veins, progressive scoliosis, osteopenia. Each of her two children presented clinical elements of EDS: her daughter (25 years old) presented especially molluscoid pseudotumours, subcutaneous spheroids joint hypermobility, chronic joint pain with recurrent joint dislocations, easy bruising and spontaneous bone fractures. Her son (18 years old) presented recurrent joint dislocations, moderate skin hyperextensibilty, articular hypermobility and autism. Clinic and genetic heterogeneity of the disease is very evident in this family, the three family members presenting clinical symptoms and comorbidities which made difficult the attempt to integrate them in a certain EDS type; these three cases presented a various clinical expression and severity. Another particularity is also represented by the presence and high frequency of associated spontaneous bone fractures. Molecular investigations could probably explain the mechanism which associates Osteogenesis Imperfecta signs to EDS symptomps, but we couldn’t perform these investigations for the time.

Cuvinte cheie: Ehlers-Danlos syndrome, heterogeneity, genetics