Ehlers-Danlos syndrome, vascular type. Ehlers-Danlos syndrome type 4
Incidence
Transmission is autosomal dominant.
Clinical Characteristics
Ehlers-Danlos syndromes (EDS) are a group of heterogenous inherited connective tissue disorders. The new classification defines six clinical forms, among which the vascular type corresponds to the former type IV EDS. Its main manifestations are distinct facies, translucid skin through which subcutaneous veins are excessively visible, easy bruisability, and intestinal or uterine arterial ruptures that may prove fatal. Minor diagnostic criteria include premature aging of extremities (acrogeria), hypermobile small joints, ruptured tendons, varices in the lower limbs and family history of the disorder. Transmission is autosomal dominant. Condition lethal in infancy/childhood. The disease is due to defective synthesis or secretion of type III collagen, a major type of collagen in skin and arterial walls. Clinical diagnosis is confirmed by the biochemical study of collagen III secretion in cultures of skin fibroblasts, and by identifying the mutation in the COL3A1 gene by means of molecular biology. Prenatal diagnosis is theoretically available for families in which the mutation has been characterized. Invasive radiological investigations should be banned. The following signs are very frequently observed: flat foot, telecanthus, low set ears, varicose veins, inguinal hernia, multiple caries, pigmented naevi, pectus excavatum, hyperelastic skin, prominent / bat ears, prematurely aged face, hyperextensible joints, short stature/dwarfism, absent/decreased lashes, absent/decreased eyebrows, scapula abnormal position, undescended/ectopic testes, sparse/absent scalp hair(generalized), mental retardation(degree not assessed). These other signs are also frequently noted: flat face, thin lips, thin skin, abnormal scarring, vascular anomalies, narrow nasal bridge, glaucoma/buphthalmos, respiratory distress, abnormal alimentary tract. Occasional signs were: hypospadias/epispadias, cyanotic/complex heart disease, pulmonary valve/artery stenosis, short foot/brachydactyly of toes.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
Clinical diagnosis is confirmed by the biochemical study of collagen III secretion in cultures of skin fibroblasts, and by identifying the mutation in the COL3A1 gene by means of molecular biology. Prenatal diagnosis is theoretically available for families in which the mutation has been characterized. Invasive radiological investigations should be banned.