Breast calcifications in Ehlers-Danlos syndrome

Abstract:  A 52-year-old Caucasian woman with Ehlers–Danlos syndrome (EDS) presented for mammography as part of the NHS Breast Screening Programme. A focus of dense calcifications was seen in the left breast. Core biopsy showed stromal calcification. The patient insisted on removal of the abnormal area. The wide local excision showed stromal calcification identical to that seen in the core biopsy. Clinicians should be aware of EDS patients presenting with breast stromal calcifications and this fact should be taken into account when investigating such lesions.     

Ehlers-Danlos综合征的研究进展

Ｅｈｌｅｒｓ Ｄａｎｌｏｓ综合征 (ＥＤＳ)又名弹力过度性皮肤 (ｃｕｔｉｓｈｙｐｅｒｅｌａｓｔｉｃａ)、皮肤毛细管破裂 (ｄｅｒｍａｔｏｒｒｈｅｘｉｓ)、伴皮肤和关节松弛的皮肤毛细管破裂 (ｄｅｒｍａｔｏｒｒｈｅｘｉｓｗｉｔｈｄｅｒｍａｔｏｃｈａｌａ ｓｉｓ)、弹力皮肤 (ｃｕｔｉｓｅｌａｓｔｉｃａ)等。 190 1年丹麦的Ｅｈｌｅｒｓ和Ｄａｎ ｌｏｓ描述了本病的临床表现 ,指出这些缺陷是由于结缔组织异常所致 ,故命名为ＥＤＳ。ＥＤＳ两性均可累及 ,男性发病率较高 ,往往有家族史 ,多数属常染色体显性遗传 ,在少数家庭本病是以性…     

Ehlers-Danlos syndrome in the Western Cape

The Ehlers-Danlos syndrome (EDS) is an uncommon heterogeneous inherited disorder in which articular hypermobility is associated with cutaneous extensibility and tissue fragility. A wide variety of complications may occur and although some forms of EDS are innocuous, others can cause serious disability. The condition has been reported from many parts of the world, but there is little information about it in Africa. To elucidate the local situation 12 affected people from the Western Cape have been investigated and information concerning 8 others has been analysed.     

Total knee arthroplasty in Ehlers-Danlos syndrome

The Ehlers-Danlos syndromes (EDS) are a rare group of connective tissue disorders characterized by severe joint hypermobility and instability. Ten patients with 12 primary knee arthroplasties were identified. Average age at time of surgery was 43.3 years, with follow-up data acquired at an average of 65 months after surgery. Primary indications for surgery were tibiofemoral or patellar instability (n = 8) and arthritis (n = 4). Knee Society Functional scores averaged 29.6 before surgery and 51.3 at time of interview (P<.005). Knee Society Knee scores at time of follow-up evaluation averaged 70. Tibiofemoral and patella stability were significantly improved. Arthroplasty appears to be an effective option for knee arthritis and instability in EDS patients, although results and satisfaction are lower than that reported for conventional arthroplasty indications.     

Orthopaedic manifestations of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is the most prevalent heritable disorder of connective tissue. Musculoskeletal problems include joint pain, swelling and instability, and spinal deformity. This study was undertaken to assess functional orthopaedic problems of patients with Ehlers-Danlos syndrome. Sixty patients with genetically verified Ehlers-Danlos syndrome (range, 8-60 years; mean, 34 years) who attended a National Ehlers-Danlos Syndrome Foundation learning conference were evaluated by questionnaire, clinical examination, and when indicated, radiographs. A database of 250 items per patient was constructed and statistically assessed using analysis of variance. Because of rarity of Types VII and VIII, these two patients were dropped from the analysis. Fifty-eight patients had Ehlers-Danlos syndrome Types I, II, III, or IV and form the study cohort. Among these four types, there were no significant differences in history of joint dislocation, swelling, or types of orthopaedic surgical procedures experienced. Thirty patients with Type III Ehlers-Danlos syndrome reported joint pain more frequently than did patients with Types I, II, or IV. Ambulation was impaired significantly in patients with Type III disorder as a whole, as was functional hand strength and upper extremity function. Back or neck pain was a common (67.2%) report among patients with all types of disease but did not correlate with the presence or absence of spinal deformity. Contrary to most previous reports, the patients in this study showed that Type III Ehlers-Danlos syndrome was the most debilitating form with respect to musculoskeletal function.     

Arterial complications of Ehlers-Danlos syndrome

Two patients considered to be examples of the Type IV or "arterial" variety of the Ehlers-Danlos Syndrome (EDS) are presented. In case 1 there seems to be little doubt about the diagnosis. Case 2, which is currently under treatment also appears to be an example of EDS, Type IV. The multiple arterial aneurysms and the findings on the skin biopsy appear to substantiate the diagnosis. These two cases demonstrate some of the features of the Type IV variety of EDS. In the first case visceral artery aneurysms dominated the clinical picture and in the second case peripheral arterial aneurysms were dominant. In neither case were the classical manifestations of the disorder, skin hyperelasticity and joint hypermobility, prominent.     

Massive spontaneous diaphragmatic rupture in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a rare disorder caused by abnormalities in the synthesis and structure of collagen. The resultant tissue fragility and weakness can lead to multiple surgical conditions. In this report we present the very rare and life threatening case of a massive spontaneous diaphragmatic rupture in a 35-year-old man with EDS and reflect on the literature, highlighting points to consider when managing such complex patients.     

Vascular manifestations in patients with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is clinically and genetically a heterogenous disorder of connective tissue synthesis. Seven clinical types of this disease have been identified and the underlying biochemical defects defined in types IV through VII. Unfortunately, most patients with major vascular complications of EDS have few, if any of the commonly recognized musculoskeletal and cutaneous abnormalities. Recognition of the correct diagnosis and the application of accepted vascular surgical techniques may improve the morbidity and mortality for these patients.     

Spontaneous coronary artery dissection in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a heterogeneous group of connective tissue disorders with type IV, the vascular subtype, behaving as the most severe largely due to spontaneous arterial aneurysm and dissection. In this case report we describe a spontaneous left anterior descending coronary artery dissection treated with coronary artery bypass graft in a patient with Ehlers-Danlos syndrome type IV.