Browsing by Author "Durmaz, Emel Ozturk"

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A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome
(DOVE MEDICAL PRESS LTD, 2022-01-01) Durmaz, Emel Ozturk; Demircioglu, Deniz; Dikmen, Pinar Yalinay; Alanay, Yasemin; Alanay, Ahmet; Demirkesen, Cuyan; Tokat, Fatma; Karaarslan, Ercan
CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All PROS disorders harbor heterozygous postzygotic activating somatic mutations involving the PIK3CA gene. As an upstream regulator of the PI3K/AKT/mTOR signal transduction pathway, activating mutations of PIK3CA gene commence in uncontrolled growth of cutaneous, vascular (capillaries, veins, and lymphatics), adipose, neural, and musculoskeletal tissues. The excessive growth is segmental, patchy, asymmetric, and confined to body parts affected by the mutation. The term `CLOVES' is an acronym denoting congenital lipomatous overgrowth, vascular malformations, epidermal nevi and spinal (scoliosis) and/ or skeletal anomalies. The syndrome is characterized by an admixture of overgrown tissues, derived mainly from mesoderm and neuroectoderm. Among PROS disorders, CLOVES syndrome represents the extreme end of the spectrum with massive affection of almost the entire body. The syndrome might judiciously be treated with medications hampering with the PI3K/AKT/mTOR signal transduction pathway. This article aims at reviewing the cutaneous and musculoskeletal manifestations of CLOVES syndrome, as the paradigm for PROS disorders. CLOVES syndrome and other PROS disorders are still misdiagnosed, underdiagnosed, underreported, and undertreated by the dermatology community.
B cell activation and antibody production
(DERI ZUHREVI HASTALIKLAR DERNEGI, 2013-01-01) Durmaz, Emel Ozturk
Background and Design: The development and maturation of B lymphocytes ensue within the bone marrow independent of the antigen. While going through a complex maturation process within the bone marrow, these cells express surface antigen receptors and eventually achieve functional and phenotypic maturity. Mature naive B cells express IgM and IgD molecules as surface antigen receptors. After completion of the maturation process within the bone marrow, mature naive B cells migrate to peripheric lymphoid organs expecting to meet their specific antigen. Humoral immune response is initiated within the peripheric lymphoid organs when mature naive B cells meet their specific antigen. The antigen receptors of mature naive B cells may directly recognize and be activated with polysaccharide, lipid, glycolipid and nucleic acid antigens and with tiny soluble molecules. However, recognition of and activation by protein antigens requires CD4+ T cell help. The activation of B cell is a complex procedure consisting of sequential steps. For protein antigens these steps involve: 1. Recognition of antigens by B cells and intracellular signaling cascade 2. Antigen presentation by B cells to Th cells 3. B cell activation with the help of Th cells 4. B cell differentiation (development of antibody releasing effector B cells, heavy chain isotype/ class switching, affinity maturation, development of memory B cells) 5. Elimination of antigens by released antibodies 6. Homeostasis (termination of humoral immune response).
Immunoreactivity of Wilms tumor 1 (WT1) as an additional evidence supporting hemangiomatous rather than inflammatory origin in the etiopathogenesis of angiolymphoid hyperplasia with eosinophilia
(INT DERMOSCOPY SOCIETY, 2018-01-01) Tokat, Fatma; Lehman, Julia S.; Sezer, Engin; Cetin, Emel Dikicioglu; Ince, Umit; Durmaz, Emel Ozturk
Background: Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare vascular proliferative disorder mainly located in the periauricular region. The etiopathogenesis of ALHE is unknown, and it is still controversial as to whether the entity represents a benign vascular neoplasm or an inflammatory process. Aim: Recently, the intracytoplasmic staining pattern of Wilms tumor 1 (WT1) on immunohistochemistry has highlighted true vascular neoplasms, such as microvenular hemangioma, tufted angioma, and spindle cell hemangioma, which has made it helpful to distinguish ALHE from vascular malformations, as there is a negative staining pattern in the other entities. We aimed to investigate the immunoreactivity of ALHE specimens for WT1 as well as glucose transporter protein 1 (GLUT1) immunohistochemistry, an important and sensitive marker for the diagnosis of infantile hemangioma, which recently has been described to label other hemangiomas, such as verrucous hemangioma. Material and methods: Clinical data and histopathological specimens from patients diagnosed with ALHE were reviewed, and immunohistochemical staining and microscopic analysis for WT-1 and GLUT1 were performed. Results: Intracytoplasmic endothelial staining of WT1 was detected in 19 of 20 ALHE specimens. GLUT1 was not detected in any ALHE specimen. Conclusions: We conclude that ALHE may represent a true hemangioma (i.e., benign vascular neoplasia) characterized by an eosinophil- and lymphocyte-rich inflammatory component as opposed to the reactive inflammatory dermatosis with a positive intracytoplasmic staining pattern for WT1. As far as we are aware, WT1 staining for ALHE has not been described to date.
Is this psoriasis or something else?
(SCIENTIFIC SCHOLAR LLC, 2022-01-01) Duman, Deniz Demircioglu; Durmaz, Emel Ozturk; Demirkesen, Cuyan; Sahin, Sedef
A 38-year-old man presented with a history of intractable itchy eruption on the buttocks, present for the last 6 years. The lesions had gradually spread over time and did not respond to several topical steroids. Dermatological examination revealed a butterfly-shaped erythematous verrucous plaque, involving both buttocks and gluteal cleft {[}Figure 1], and peripheral guttate red-brown discrete papules {[}Figure 2]. Histologic examination of a punch biopsy specimen displayed orthokeratosis, follicular plugging, numerous oblique columns of parakeratosis called cornoid lamellae, extending at about 45 degrees from the surface of
Painless dells on the cheek
(MEDKNOW PUBLICATIONS \& MEDIA PVT LTD, 2013-01-01) Duman, Deniz; Durmaz, Emel Ozturk; Cetin, Emel A.; Yazar, Sukru; Sahin, Sedef
Papular elastorrhexis: clinical perspectives
(DOVE MEDICAL PRESS LTD, 2018-01-01) Sezer, Engin; Durmaz, Emel Ozturk; Sahin, Sedef
First described by Bordas in 1987, papular elastorrhexis (PE) is a rare elastic fiber disorder of the skin characterized by multiple, discrete, asymptomatic, firm, nonfollicular, monomorphous, 1-5 mm, circumscribed, hypopigmented, oval to round papules, symmetrically distributed on the chest, abdomen, back, shoulders, arms, and thighs. The onset of the condition is usually in the first or second decade of life. PE appears to be an exceedingly rare entity, with 33 cases reported in the literature until now. However, the disorder might be underestimated probably because of its subtlety, asymptomatic course, and benign nature of clinical alterations, which can easily be confused with other dermatoses such as acne scars. Clinical and histopathological differential diagnosis of PE is broad and includes papular acne scars, eruptive collagenoma, disseminated lenticular dermatofibrosis (as a component of Buschke-Ollendorff syndrome), white fibrous papulosis of the neck, pseudoxanthoma elasticum, pseudoxanthoma elasticum-like papillary dermal elastolysis, middermal elastolysis, and perifollicular elastolysis. Treatment of PE is a matter of debate and no reliable curative option exists.
Red forehead dot(s) and migraine
(WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2020-01-01) Durmaz, Emel Ozturk; Demirkesen, Cuyan
Secretan Syndrome: A Fluctuating Case of Factitious Lymphedema
(QUADRANT HEALTHCOM INC, 2021-01-01) Demircioglu, Deniz; Durmaz, Emel Ozturk; Sezer, Engin; Sahin, Sedef