A 19-year old female with blue rubber bleb nevus syndrome. Endoscopic laser photocoagulation and surgical resection of gastrointestinal angiomata. cerebellum: a case report and review of the literature. 39. Hofhuis WJD, Orange AP, Bouquet J, et al. Blue rubber blue nevus syndrome: report of a case with consumption coagulopathy complicated by manifest thromboses. A case report: pregnancy complic...

A 47-year old Caucasian male with 7-year history of Immune Thrombocytopenic Purpura (ITP) presented with acute onset pain and purplish-blue discoloration of the left fifth toe and pleuritic chest pain. At the time of ITP diagnosis, he was positive for lupus anticoagulant (LA) and high titer of IgG anticardiolipin antibodies (aCL). However, his platelet count had previously remained stable at ap...

Amniotic band syndrome (ABS) is an uncommon, congenital fetal abnormality. Lower extremity limb defects are the common manifestations of ABS. The most common features include congenital distal ring constrictions, intrauterine amputations, and acrosyndactyly. Rare cases of craniofacial and visceral defects were reported. A female newborn, born at 33 weeks of gestation from a 43 years-old mother,...

Blue rubber bleb nevus syndrome is a sporadic disease with widely distributed dark blue papules and nodules and soft skin-colored compressible protuberances (rubber blebs) as well as large vascular malformations. Gasterointestinal lesions are documented by upper endoscopy and colonoscopy; hemorrhages from these lesions create irondeficinecy anemia. Other sites of visceral involvement are less c...

The cholesterol embolization syndrome (CES) is a potentially severe complication of atherosclerosis, caused by embolization of atherosclerotic plaques, most frequently after vascular surgery or endovascular procedures. The clinical presentation closely mimics that of systemic vasculitides hence it should be considered in the differential diagnosis in patients with suspected vasculitis. Skin les...

PURPOSE OF REVIEW To describe cholesterol embolization syndrome (CES) and its risk factors, pathophysiology, clinical presentation, diagnosis and treatment. RECENT FINDINGS To date, no specific diagnostic test (other than biopsy) for CES has been developed. Effective treatments for CES are yet to be developed. SUMMARY CES (also referred to as cholesterol crystal embolization, atheromatous e...

In this study, a Vohwinkel syndrome case is presented where in 5th digit constriction bands in the right hand were reconstructed using a distant abdominal skin flap. Vohwinkel syndrome, or keratoderma hereditarium mutilans, is a rare, autosomal dominant genetic skin condition that causes palmoplantar hyperkeratosis and constricts finger and/or toe bands. In a typical manifestation, the finger a...

Current Opinion in Cardiology 2011, 26:472–479 Purpose of review To describe cholesterol embolization syndrome (CES) and its risk factors, pathophysiology, clinical presentation, diagnosis and treatment. Recent findings To date, no specific diagnostic test (other than biopsy) for CES has been developed. Effective treatments for CES are yet to be developed. Summary CES (also referred to as chole...

Introduction Peripheral microembolism is one of the most frequent causes of acute limb ischemia. In order to effectively prevent relapses it is essential to localize and eliminate the source of embolism. Aim To evaluate the role of Duplex Doppler ultrasound examination in identifying the causes of blue toe syndrome (BTS). Material and methods The group of 165 patients with clinical symptoms...

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...