Hatice Şanlı

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.

H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.

Aggressive Kaposi’s Sarcoma Associated With Golimumab Therapy

Correspondence: Seçil Vural, MD. Ankara Üniversitesi Tıp Fakültesi, Dermatoloji ve Venereoloji Anabilim Dalı, 06230 Altındağ, Ankara, Turkey. Tel: +90 312 208 28 05 e-mail: secilsaral@gmail.com A 65-year-old male patient with a 25-year history of psoriasis and psoriatic arthritis presented to our clinic. He described the onset of new lesions three weeks ago (Figure 1). His dermatologic examination revealed purple plaque and nodules on the anterior and posterior trunk and extremities. One month ago, his examination was performed again in our clinic, and these lesions were absent. Patients detailed medical history revealed prior use of both conventional and novel anti-tumor necrosis factor-alpha (anti-TNF-a) treatments (methotrexate 15 mg-20 mg/week for four years, etanercept 50 mg/week for two years,

Unique Presentation of Leukemic Cutaneous CD3/TCR- Phenotype T-Cell Lymphoma with Complete Remission after Allogeneic Stem Cell Transplantation

Histopathological examination of the ichthyotic skin showed perivascular dermal lymphoid cell infiltration in the superficial dermis and nodular and dense lymphoid cellular infiltration in the deep dermis. Lymphoid cells were CD3+ and CD20with a loss of CD7 expression. There were numerous (>25%) large, anaplastic cells with CD30 positivity among the lymphoid infiltrate. Clonal expansion of T cells in the lesional skin was demonstrated.

Transformation of Mycosis fungoides/Sezary syndrome: clinical characteristics and prognosis

Objective: Transformed mycosis fungoides (T-MF) is a rare variant of MF with an aggressive course. In this study, we aimed to describe characteristics of MF/Sezary syndrome (SS) patients with transformation. Materials and Methods: Patients diagnosed with T-MF among MF/SS patients between 2000 and 2014 in a tertiary single center were evaluated retrospectively. Demographic data, clinical data, laboratory data, immunophenotype features, response to treatment, survival, and histopathologic features were analyzed. Results: Among 254 MF patients, 25 patients with T-MF were identified (10.2%) and included in the study. The male-to-female ratio was 2.6/1. The median time between MF diagnosis and transformation was 32 months (range: 0-192). Nine (36%) patients were diagnosed initially with T-MF. Advanced disease stage and high serum lactate dehydrogenase (LDH) levels were indicators of poor prognosis and treatment response. Five of the 18 patients with progressive disease had undergone allogeneic hematopoietic stem cell transplantation (allo-HSCT). Allo-HSCT resulted in complete remission in three (60%) patients. Ten (40%) patients died as a result of disease progression. Mean survival time was 25.2±14.9 (2-56) months after transformation. Conclusion: Advanced stage, high serum LDH levels, and loss of CD26 and CD7 expression in the peripheral blood are poor rognostic factors in T-MF. Treatment-resistant tumors and nodules should be cautionary for T-MF. Patients with T-MF have a shortened survival. Some patients may respond to first-line treatments. However, the majority of patients who do not respond to first-line therapies also are unresponsive to second or third-line therapies. Allo-HSCT may be an alternative option in patients with T-MF.

Contents Vol. 151, 2017

Plant cytogenetics and genomics Andreas Houben Institute of Plant Genetics and Crop Plant, Research (IPK) Corrents-Str. 3 Gatersleben, D–06466 (Germany) Tel. (+1) 785 532 2364; Fax (+1) 785 532 5692 E-mail: houben@ipk-gatersleben.de Tumor cell genetics and cancer cytogenetics Ad Geurts Van Kessel Department of Human Genetics University Hospital P.O. Box 9101 NL–6500 HB Nijmegen (The Netherlands) Tel. (+31) 24 361 4107; Fax (+31) 24 354 0488 E-mail: a.geurtsvankessel@antrg.umcn.nl

An Unusual Cause of Oligoarthritis and Erythema Nodosum: Idiopathic Granulomatous Mastitis

Idiopathic granulomatous mastitis (IGM) is an unusual benign inflammatory disease of breast. Breast cancer mimics IGM both radiologically and clinically. However, IGM is a benign disease and awareness of such an entity prevents unnecessary surgical procedures. Although its etiology is unknown, it may be an autoimmune disease. There are few patients reported in the literature presenting with reactive arthritis and/or erythema nodosum accompanying IGM of breast. Granulomatous mastitis should be considered as a possible underlying cause of arthritis and erythema nodosum. In this article, we report this interesting association of IGM as an underlying cause of arthritis and generalized erythema nodosum in a 32-year-old female patient. Comprehensive examination for granulomatous mastitis showed no apparent underlying cause. Indomethacin was beneficial in treatment of arthritis and erythema nodosum. Resistant IGM was responsive to colchicine treatment. Clinical management and therapeutic approach have been discussed in detail.

Mikozis Fungoides İle İlişkili Pitriazis Rotunda = Pityriasis Rotunda Associated With Mycosis Fungoides

Pitriazis rotunda govde ve ekstremitelerde yerlesen, keskin sinirli, yuvarlak veya oval sekilli, uzeri skuamli asemptomatik makullerle karakterize nadir gorulen bir deri hastaligidir. Etyolojisi henuz bilinmemektedir. Bazi otorler kazanilmis ya da konjenital iktiyozisin bir formu ya da tuberkuloz, malnutrisyon, hepatoselluler kanser, lenfoma, losemi, multipl myelom, mide kanseri, kardiak ve pulmoner hastaliklar gibi sistemik hastaliklarin deri belirtisi olabilecegine inanmaktadirlar. Mikozis fungoides tedavisi esnasinda ortaya cikan pitriazis rotunda daha once bildirilmemistir.