Browsing by Author "Demiralay, Ebru"
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Item Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report(2014) Cigerli, Ozlem; Unal, Asli Dogruk; Parildar, Hulya; Demiralay, Ebru; Tarcin, Ozlem; 25337425Background: Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. FMF associated Amyloid A deposition occurs in many tissues and organs, but amyloid goiter is a rare entity that leads to enlargement and dysfunction of the thyroid. Case Report: We present a rare case of 24 year old male patient who had liver and kidney transplantation due to Byler Syndrome and secondary amyloidosis related to FMF, diagnosed as rapidly growing large amyloid goiter. Deposits of extracellular amyloid and dense adipose metaplasia diagnostic for amyloid goiter are determined upon histopathological examination of thyroidectomy material. Conclusion: When goiter was detected in cases with history of systemic amyloidosis and rapidly growing goitre, amyloid goiter should be remembered at first. This case is unique since two autosomal genetic disorders are together in the same patient and important as it emphasizes the consequences of consanguineous marriage, early diagnosis and treatment compliance of FMF and the awareness of amyloid goiter in patients followed by primary care physicians and healthcare professionals.Item An Extraordinary Manifestation of Nodular Cystic Fat Necrosis(2016) Demirci, Gulsen Tukenmez; Mansur, A. Tulin; Ozker, Emre; Demiralay, Ebru; https://orcid.org/0000-0002-9646-0719; 26894780; D-6031-2017Nodular cystic fat necrosis (NCFN) is characterized by mobile subcutaneous nodules composed of necrotic adipocytes encapsulated by fibrous tissue. The classical presentation of NCFN is solitary or multiple, up to 40, discrete nodules scattered usually on the extremities or trunk. Here, the authors present an elderly woman who developed an unusual and striking clinical picture of NCFN, two months after a fall. The patient had a large indurated plaque and subcutaneous nodule with superposing necrotic ulcers. During debridement of the ulcers, nearly 100 small nodules popped up freely along with a brownish discharge. Deep in the ulcer, the authors discovered a dislocated nail that belongs to an old hip prosthesis. Histopathological findings of the nodules were compatible with NCFN.Item Rectal diverticulitis mimicking rectal carcinoma with intestinal obstruction: Case report(2015) Ozcelik, Umit; Bircan, Huseyin Yuce; Eren, Eryiğit; Demiralay, Ebru; Isiklar, Iclal; Demirag, Alp; Moray, Gokhan; 25698274Although diverticular disease of the colon is common, the occurrence of rectal diverticula is extremely rare with only sporadic reports in the literature since 1911. Symptomatic rectal diverticula are seen even less frequently, and surgical intervention is needed for only complicated cases. Here we report the case of a 63-year-old woman presenting with rectal diverticulitis mimicking rectal carcinoma with intestinal obstruction.Item Sirolimus-Induced Diffuse Alveolar Hemorrhage: A Case Report(2016) Balcan, Baran; Simsek, Ergun; Ugurlu, Aylin O.; Demiralay, Ebru; Sahin, Sevgi; 0000-0003-3598-3986; 26849007; A-4721-2018; AAA-2925-2020Sirolimus is a mammalian target of the rapamycin, a protein kinase, which is responsible for inhibition of T cell and B cell proliferation. Sirolimus has side effects on lugs, and may cause cryptogenic organizing pneumonia, diffuse alveolar hemorrhage, lymphocytic pneumonitis, hypersensitivity pneumonitis, desquamative interstitial pneumonia, and pulmonary alveolar proteinosis. Diagnosis is based on the combination of clinical, radiological, histological, and pathological investigation. We report a case of diffuse alveolar hemorrhage in a 33-year-old, female renal transplant recipient. After discontinuation of sirolimus, radiological images and clinical condition of the patient got better. We also planned steroid therapy for 6 months by tapering the dosage slowly. After steroid therapy, full recovery of pulmonary functions achieved, and the patient is observed in our outpatient clinic with lack of any pulmonary symptoms.Item Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans(2017) Demirci, Gulsen Tukenmez; Mansur, Ayse Tulin; Demiralay, Ebru; 0000-0002-9646-0719; 28930108; D-6031-2017Terra firma-forme dermatosis (TFFD) is a clinical condition characterized by brown-gray, velvety, pigmented patches or plaques, resembling dirt on the skin. Nevoid acanthosis nigricans (NAN) is a rare and recently described form of acanthosis nigricans occurring during childhood or early adulthood. Herein we describe a patient with TFFD, initially misdiagnosed as NAN. The patient had developed hyperkeratotic and hyperpigmented plaques on and around the umbilicus during pregnancy. Though regular in bathing practices, she could not clear away the lesions and concerned marks for inesthetic appearance. Histopathological findings were compatible with NAN, and she was prescribed 10% urea lotion. On a dramatic healing after 3 weeks, a diagnosis of TFFD is considered and confirmed by the lesions getting wiped away by vigorous rubbing with alcohol pads. We discuss the key points of differentiating TFFD from NAN, and underline the importance of alcohol test for accurate diagnosis.