ABSTRACT
Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis.
ABSTRACT
Pregnancy and cancer is a complex situation. The coincidence of chronic myelogeneous leukemia (CML) and pregnancy is an uncommon event, in part because CML occurs mostly in older age groups. The management of CML during pregnancy is a difficult problem because of the potential effects of the therapy on the mother and fetus. Imatinib is a relatively new drug in this era and it induces dramatic hematologic and cytogenetic responses in CML but it is not recommended for use during pregnancy or if the patient plans to conceive. In the literature there are very few reports of outcome of pregnancy conceived while on imatinib. In this report, we describe a successful pregnancy and labor under treatment of imatinib in a patient who was diagnosed with CML at the beginning of her pregnancy.
Subject(s)
Antineoplastic Agents/therapeutic use , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Piperazines/therapeutic use , Pregnancy Complications, Neoplastic/drug therapy , Pyrimidines/therapeutic use , Adult , Benzamides , Female , Humans , Imatinib Mesylate , Pregnancy , Pregnancy Outcome , Treatment OutcomeABSTRACT
Granulomatous slack skin (GSS) is a rare form of cutaneous T-cell lymphoma, closely related to mycosis fungoides. It is characterized by pendulous skin folds with a predilection for flexural areas. Histology shows an elastolytic granulomatous infiltrate with atypical lymphoid cells. Granulomatous mycosis fungoides is an important histologic differential diagnosis to be considered. We present a 19-year-old man with a gradually enlarging erythematous, and bulky lesions on his body. Histologically, a dense atypical lymphoid cell infiltration with numerous multinucleated giant cells and elastolysis was observed. T-cell receptor gene rearrangement was detected in skin lesions. He was treated with PUVA and interferon alpha, but improvement in skin lesions was not observed. Marked regression of all lesions was achieved by using electron beam therapy. This case report supports that GSS is an indolent variant of mycosis fungoides due to clinical, histological and T-cell gene rearrangement results. However, there is no definitive data about prognosis of the disease. We suggest that further clinical studies are needed to understand this rare condition.
Subject(s)
Electrons/therapeutic use , Lymphoma, T-Cell, Cutaneous/radiotherapy , Skin Neoplasms/radiotherapy , Adult , Humans , Lymphoma, T-Cell, Cutaneous/pathology , Male , Skin Neoplasms/pathologySubject(s)
Fibrous Dysplasia of Bone/etiology , Hodgkin Disease/complications , Mandibular Diseases/etiology , Pituitary Neoplasms/complications , Prolactinoma/complications , Adult , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bleomycin/administration & dosage , Dacarbazine/administration & dosage , Disease Progression , Doxorubicin/administration & dosage , Female , Fibrous Dysplasia of Bone/drug therapy , Fibrous Dysplasia of Bone/pathology , Hodgkin Disease/drug therapy , Hodgkin Disease/pathology , Humans , Mandibular Diseases/drug therapy , Mandibular Diseases/pathology , Pituitary Neoplasms/drug therapy , Pituitary Neoplasms/pathology , Prolactinoma/drug therapy , Prolactinoma/pathology , Vinblastine/administration & dosageABSTRACT
Bone marrow necrosis is a rare but ominous finding in various malignant and nonmalignant disorders. It is usually a postmortem diagnosis, but with the advent of modern imaging methods and clinical suspicion, bone marrow necrosis can be diagnosed as antemortem, especially in malignant disorders. We report a 60-years old man with newly diagnosed non-Hodgkin lymphoma presenting with anemia and very high level of alkaline phosphatase. On bone marrow biopsy, it was noted with extensive BMN characterized by cellular debris with indistinct cellular margin and abnormally eosinophilic staining cytoplasm. Despite the prompt institution of aggressive chemotherapy, one week later, liver function tests gradually deteriorated and the patient succumbed. Given the high mortality rate, when the bone marrow necrosis is suspected especially in a patient with malignancy, disease specific treatment and vigorous supportive measures should be immediately commenced.
ABSTRACT
Hairy cell leukemia (HCL) is an uncommon B cell disorder, and familial HCL is rarely encountered among the first degree relatives of HCL patients. A father and son, both of whom developed hairy cell leukemia, is presented in this report. The HLA haplotype shared by the father and son was A2, B18, BW6, CW7, DR3, DR10, and DQ8. Among these haplotypes, HLA A2 and Bw6 have previously been reported.
