We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

Pallister-Killian syndrome is a rare, multi-system developmental diagnosis typically caused by tetrasomy of chromosome 12p that exhibits tissue-limited mosaicism. The spectrum of clinical manifestations in Pallister-Killian syndrome is wide and includes craniofacial anomalies, clefts, ophthalmologic, audiologic, cardiac, musculoskeletal, diaphragmatic, gastrointestinal, genitourinary, and cutan...

Background: Studies have revealed that polycystic ovary syndrome (PCOS) usually begins in adolescence, and it might manifest differently in different populations. In Iran, prevalence and phenotypes of PCOS among women in the community are unknown. The aim of the study was to estimate prevalence and clinical characteristics of Polycystic Ovary Syndrome in a community setting in Iran in 2013-2014...

The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodula...

Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) may present with different clinical manifestations. A mutation in the PTCH gene, involved Gorlin-Goltz syndrome, could be associated pathogenesis of this neoplasm. We describe case 7-year-old girl multiple papules on her face.

The light and electron micrscopic findings in an eye enucleated from a 38-year-old woman with iris naevus (Cogan-Reese) syndrome are presented. The clinical manifestations of this disease, namely, iridic stromal matting, iridic nodule formation, and unilateral angle-closure glaucoma, appear to be secondary to an endothelial membrane on the anterior surface of the iris. The iris naevus syndrome ...

BACKGROUND Churg-Strauss is a rare, idiopathic, hypereosinophilic disease characterized by blood, tissue, and systemic vasculitis in patients with a history of asthma or allergic rhinitis. Gastrointestinal manifestations of Churg Strauss appear in a 31-45% of the patients according to some series of studies, abdominal pain being the most frequent symptom followed by diarrhea and bleeding. CLI...

Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hemat...

purpose: to report and compare outcomes and intra- and postoperative complications of senile cataract surgery using phacoemulsification in patients with and without pseudoexfoliation syndrome. methods: consecutive patients with pseudoexfoliation syndrome who underwent phacoemulsification in one or both eyes for senile cataracts between october 2009 and october 2010 were enrolled in the study. i...

thrombotic thrombocytopenic purpura (ttp) is a rare syndrome affecting multiple organs. there is no sufficient evidence regarding the clinical cardiac manifestations of ttp. nonetheless, pathologic cardiac involvement is quite frequent in acute ttp, which is predominantly manifested as myocardial necrosis due to coronary arteriolar microthrombosis. the present case report describes a 43-year-ol...