#EHLERS DANLOS SYNDROME TYPE 3 SKIN#

#EHLERS DANLOS SYNDROME TYPE 3 SKIN#

The skin on the extremities appears prematurely aged, hence the term acrogeria, and the subcutaneous veins are highly visible. The veins under the skin are distinctly visible as the skin is translucent on the thorax, the shoulders and, sometimes, the abdomen. In vascular EDS, the skin is abnormally thin and pale. A non-acrogeric form of the syndrome may also exist, whose clinical diagnosis is more difficult as several distinguishing features are not present. The nose is pinched and thin, as are the lips, particularly the upper lip whose edges are undefined. The eyes appear sunken or bulging, often with colouring around them and thin telangiectasia on the eyelids. When present, acrogeria is defined by characteristic facial features such an emaciated face with prominent cheekbones and sunken cheeks. Surgery may, however, be required urgently to treat potentially fatal complications.Д¬linical diagnosis of vascular Ehlers-Danlos syndrome is based on four criteria: a characteristic facial aspect (acrogeria) in most patients, thin and translucent skin with highly visible subcutaneous vessels, ecchymoses and haematomas, and arterial, digestive and obstetrical complications. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering from EDS type IV. Invasive imaging techniques are contraindicated. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. Prenatal diagnosis can be considered in families where the mutation is known. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COе…ѓA1 gene. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COе…ѓA1 gene coding for type III procollagen. Pregnancy increases the likelihood of a uterine or vascular rupture. There is a high risk of recurrent colonic perforations. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

Ehlers-danlos syndrome type 3