Coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome and neurofibromatosis type I.

Neurofibromatosis type 1 (NF-1) is the most frequently seen form of neurofibromatosis. The characteristic features of this disorder are café au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rarely seen disease characterized by complete vaginal agenesis and uterine aplasia/hypoplasia. We report a case of an 18-year-old female patient who presented with complaints of brown marks, freckling, and primary amenorrhea. NF-1 and MRKH syndrome were diagnosed by physical examination and radiologic imaging. To our knowledge, this is the first report of coexistence of these rare genetic diseases in the literature.

Woringer-Kolopp disease coexpressing CD4 and CD8 treated with radiation therapy: a case report.

We present an extremely rare case of Woringer-Kolopp disease with CD4+/CD8+ immunohistochemical features in a 27-year-old male patient, which involved the right gluteal region continuing down to the lower thigh. Although the lesions had been present for 15 years, the disease abruptly changed its indolent clinical behavior in the last 3 months and gained local aggressiveness without features of dissemination. The patient was successfully treated with 6 MeV electron-beam radiotherapy and the radiation portal was determined to be the gross lesion plus 1-cm margins around the lesion. Radiation therapy was administered with a hypofractionated dose schedule of 2.8 Gy per fraction in 13 fractions, 5 days a week, to a total of 36.4 Gy. No radiation-induced toxicity was reported during therapy. The patient's follow-up was ordinary with no recurrence after a follow-up period of 38 months and the cosmetic result was excellent.

A case of juvenile hyaline fibromatosis.

Juvenile hyaline fibromatosis (JHF) is a rare, autosomally-recessive disease characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. Its onset is in infancy or early childhood. The most commonly affected sites are the nose, chin, ears, scalp, back and knees. The accumulation of an amorphous, hyaline material is typical in the skin and the other organs. Herein, we report a 14-month-old boy who presented with confluent pink papules on the paranasal folds and the chin, and nodular lesions on the periauricular and perianal regions. He had gingival hypertrophy and contractures of the shoulders, knees and elbows. He also had third-degree consanguineous parents. Histopathological studies confirmed the diagnosis of JHF with the presence of increased numbers of fibroblasts embedded in a hyalinized connective tissue stroma.

Lipoid proteinosis: A case with ophthalmological and psychiatric findings.

Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.

Radiation port wart: a distinct cutaneous lesion after radiotherapy.

UNLABELLED: LABELED BACKGROUND: Radiotherapy may cause common cutaneous side effects such as acute and chronic radiodermatitis and also rare skin conditions. CASE REPORT: A 42-year-old woman who received radiotherapy for invasive breast carcinoma developed multiple, scaly, rough papules and nodules restricted to treatment fields six months after completion of the treatment. A relapse of the breast cancer and/or seborrheic keratosis was ruled out by histological confirmation of verruca vulgaris. CONCLUSION: We report the first case of verruca vulgaris associated with radiation treatment. Radiotherapists and dermatologists should be aware of this possibility and be able to differentiate it from other skin lesions associated with irradiation.

Pyoderma gangrenosum in association with juvenile rheumatoid arthritis.

A 17-year-old girl presented with multiple, painful, erythematous blisters and ulcerated lesions on the shins and buttocks. She also had arthralgia. She had suffered from juvenile rheumatoid arthritis (JRA) and received anti-inflammatory agents and oral glucocorticoids for eight years. A biopsy of a lesion showed epidermal ulceration with marked neutrophilic infiltrates in the dermis. The patient was diagnosed with pyoderma gangrenosum (PG). PG is an uncommon cutaneous ulceration within the spectrum of the neutrophilic dermatoses that is reported in association with a number of systemic disorders, including inflammatory bowel disease, hematologic disease, internal malignancies, arthritis, immune abnormalities, and solid tumors. To our knowledge, this is the first reported case of PG associated with JRA.

The evaluation of autoantibodies against oxidatively modified low-density lipoprotein (LDL), susceptibility of LDL to oxidation, serum lipids and lipid hydroperoxide levels, total antioxidant status, antioxidant enzyme activities, and endothelial dysfunction in patients with Behçet's disease.

OBJECTIVES: Behçet's disease is a multisystem disorder characterized by a chronic inflammation including acute attacks and remission periods. Decreased enzyme activity of the antioxidant system and increased levels of free radicals may have important roles in the damage of tissues observed in the disease period. In addition, the atherogenic tendency of serum lipid, lipoproteins, lipid peroxidation levels and endothelial dysfunction accompany the above mentioned findings. As a consequence of these events, different degrees of low density lipoprotein (LDL) oxidation occur in vivo, and then autoantibodies against oxidized-LDL(AuAb-oxLDL) are produced. DESIGN AND METHODS: Lipids, lipoproteins, lipid hydroperoxide, AuAb-oxLDL, total antioxidant status (TAS), serum-soluble intercellular adhesion molecule-1 (sICAM-1), plasminogen activator inhibitor 1 (PAI-1) levels in serum, the activities of antioxidant enzymes including glutathione peroxidase (GSH-Px), glutathione reductase (GR), superoxide dismutase (SOD), and catalase (CAT) in erythrocytes and plasma, were determined in 25 patients with Behçet's disease and in 25 healthy volunteers. Also, susceptibility to copper-induced in vitro oxidation of LDL by using lag time, a measure of resistance to oxidation, oxidation rate and extent of oxidation, a measure of diene production in both groups, was studied. RESULTS: It was observed that lipid hydroperoxide and AuAb-oxLDL levels in patients with Behçet's disease were significantly higher, but erythrocyte SOD, CAT, plasma GSH-Px activities, and TAS were significantly lower than those in healthy subjects. Susceptibility of LDL to oxidation in the patients was found to be increased. Total cholesterol, LDL-C and apo B levels and acute phase reactants were significantly higher, but HDL-C and apo AI levels were significantly lower, in patients when compared to healthy subjects. The levels of AuAb-oxLDL in patients were found to correlate with TAS, total cholesterol, LDL-C, lipid hydroperoxide and erythrocyte SOD activities (r = -0.62, p < 0.01; r = 0.64, p < 0.01; r = 0.55, p < 0.01; r = 0.81, p < 0.01; r = -0.63, p < 0.01, respectively). In addition, lipid hydroperoxide levels were found to correlate with total cholesterol, LDL-C and erythrocyte SOD activities (r = 0.45, p < 0.05; r = 0.45, p < 0.05; r = -0.46, p < 0.05, respectively). PAI-1 and sICAM-1 were found to be increased in the patients and correlated with AuAb-oxLDL and lipid hydroperoxide levels (r = 0.56, p < 0.01; r = 0.67, p < 0.01 and r = 0.59, p < 0.01; r = 0.61, p < 0.01, respectively). CONCLUSIONS: It was concluded that the observed increase of lipid, lipoproteins, lipid hydroperoxide, susceptibility of LDL to oxidation, autoantibodies against ox-LDL levels and decrease of antioxidant enzyme activities and total antioxidant status and increased secretion of endothelial derivated peptides including sICAM and PAI-1, and their interactions may indicate that there is a tendency to atherothrombotic events in patients with Behçet's disease.

Evaluation of the atherogenic tendency of lipids and lipoprotein content and their relationships with oxidant-antioxidant system in patients with psoriasis.

BACKGROUND: Psoriasis is a common chronic and recurrent inflammatory skin disease that can occur due to abnormalities in essential fatty acid metabolism, lymphokine secretion, free radical generation, lipid peroxidation and eicosanoid metabolism, and has been associated with increased frequency of cardiovascular events. The current study was designed to evaluate plasma lipids, susceptibility of LDL to oxidation and oxidant-antioxidant status and their relationships in patients with psoriasis. METHODS: The study group included 35 patients with psoriasis (18 females and 17 males), and 35 sex- and age-matched healthy volunteers (16 females and 19 males). From blood samples, their lipids, lipoproteins, acute phase reactants, lipid peroxidation products [lipid hydroperoxide (LHP) and malondialdehyde (MDA)], antioxidant enzymes [glutathione peroxidase (GSH-Px), glutathione reductase (GR), superoxide dismutase (SOD), catalase (CAT)], total antioxidant status (TAS) and autoantibodies against oxidized low-density lipoprotein (AuAb-oxLDL) levels were determined. Moreover, the susceptibility of copper-induced in vitro oxidation of LDL was examined. RESULTS: The mean levels of atherogenic lipids (total cholesterol [TC], triacylglycerol [TG] and LDL cholesterol [LDL-C]), acute-phase reactants (CRP, ESR, PMNLs, ceruloplasmin and fibrinogen) and lipid peroxidation products, AuAb-oxLDL levels in patients with psoriasis were found to be significantly higher than those of healthy subjects. On the other hand, TAS and antioxidant enzyme activities (CAT, SOD and GSH-Px in erythrocyte and SOD in plasma) were significantly lower when compared to healthy subjects. The lag times [t(lag)], a measure of resistance to oxidation of LDL, were also lower. The levels of AuAb-oxLDL in patients were correlated with TC, LDL-C, plasma LHP, erythrocyte MDA, oxidized LDL-MDA (oxLDL-MDA), fibrinogen, CRP, PMNL levels and plasma SOD activities (r = 0.69, P < 0.01; r = 0.64, P < 0.01; r = 0.38, P < 0.05; r = 0.65, P < 0.01; r = 0.34, P < 0.05; r = 0.34, P < 0.05; r = 0.53, P < 0.01, r = 0.34, P < 0.05; r = -0.67, P < 0.01, respectively). On the other hand, t(lag) was correlated negatively with the levels of VLDL-TG, VLDL-TC and LDL-TG but positively correlated with the levels of TAS in psoriatics (r = -0.49, P < 0.01; r = -0.49, P < 0.01, r = -0.65, P < 0.05; r = 0.37, P < 0.05). CONCLUSIONS: It was concluded that the psoriatic patients could be considered as a group with an increased atherosclerotic risk because of increased oxidant stress, decreased antioxidant capacity and susceptibility in lipid profile and lipoprotein content to atherogenicity.

Plasma homocysteine and its relationships with atherothrombotic markers in psoriatic patients.

BACKGROUND: Hyperhomocysteinemia may constitute an independent risk factor for cardiovascular disease and may promote atherothrombosis. Psoriasis is one of the diseases associated with increased atherothrombosis. The aim of the present study was to examine serum total homocysteine (tHcy) level and its relationships with atherothrombotic markers. METHODS: The study group included 30 patients with psoriasis (17 females and 13 males) with a mean age of 34.2 (age range: 27-40) and 30 sex and age matched healthy volunteers (15 females and 15 males) with a mean age of 36.7 (age range: 26-48). The concentrations of lipids, lipoproteins, acute phase reactants, tHcy and atherothrombotic markers [fibronectin, soluble vascular adhesion molecules-1 (sVCAM-1), soluble intercellular adhesion molecules-1 (sICAM-1), tissue plasminogen activator (tPA), plasminogen activator inhibitor-1 (PAI-1), autoantibodies against oxidized LDL (AuAb-oxLDL)] were determined. RESULTS: The mean levels of serum tHcy, fibrinogen, fibronectin, sICAM, PAI-1 and AuAb-oxLDL were increased in patients whereas tPA, vitamin B(12) and folate levels were decreased significantly. Increased levels of sVCAM were not statistically significant. tHcy levels were negatively correlated with vitamin B(12) (r=-0.40, P=0.027) and positively correlated with PAI-1 and AuAb-oxLDL levels (r=0.46, P=0.011; r=0.39, P=0.035, respectively). CONCLUSIONS: It was concluded that the increased homocysteine concentration and altered endothelial cell-mediated proteins associated with increased lipids and LDL oxidation may play an important role for the development of atherothrombotic complications with psoriasis.

Toxic epidermal necrolysis treated with intravenous immunoglobulin and granulocyte colony-stimulating factor.

We report a case of toxic epidermal necrolysis who was successfully treated with intravenous immunoglobin and granulocyte colony-stimulating factor. He had poor prognostic factors such as extensive epidermal loss, neutropenia, acute respiratory distress syndrome and candida sepsis, but nonetheless made a complete recovery.

Effect of plasma from patients with Behçet's disease on the production of nitric oxide in cultured human umbilical vein endothelial cells.

OBJECTIVE: To determine the effect of plasma from patients with Behçet's disease (BD) on the production of nitric oxide (NO) in cultured human umbilical vein endothelial cells (HUVECs). SUBJECTS AND METHODS: NO levels were measured in cell culture media after 24-hour incubation of the cells with plasma obtained from 22 BD patients and 16 age/sex-matched healthy control subjects. After treatment of the patients with colchicine and/or nonsteroidal anti-inflammatory drugs, 12 of the patients were considered to be in the inactive phase of the disease. Levels of NO production were also measured in these 12 patients. In addition to the in vitro experiments, erythrocyte sedimentation rate, alpha(1)-antitrypsin, alpha(2)-macroglobulin and neutrophil counts were measured in the patients and controls. RESULTS: Levels of NO in active state BD patients (15.9 micromol/10(6) cells) were significantly lower than values obtained from both patients in the inactive period (19.2 micromol/10(6) cells) and the control group (19.7 micromol/10(6) cells). No significant differences were observed in induced NO products between the patients in the inactive stage and control subjects. CONCLUSION: Plasma from BD patients decreased the level of NO production in the HUVECs, and therefore may cause dysfunction in the endothelial NO synthase activity.

Erythema dyschromicum perstans: response to dapsone therapy.

Erythema dyschromicum perstans (EDP) is a rare disorder characterized by asymptomatic, slowly progressive, ash-gray macular pigmentation of the skin, which usually occurs from age 5 years through adult life. Most cases reported to date are of Latin American and Indian patients. Rare cases have been reported from Turkey. No treatment of choice is presently available. Various therapies have been tried, including sun protection, chemical peels, antibiotics, corticosteroids, vitamins, isoniazid, griseofulvin, and chloroquine, without any benefit. Some authors have suggested the therapeutic efficacy of clofazimine and dapsone on EDP. We report a case of EDP that responded remarkably well to treatment with dapsone.

Toxic epidermal necrolysis treated with intravenous immunoglobulin and granulocyte colony-stimulating factor.

We report a case of toxic epidermal necrolysis who was successfully treated with intravenous immunoglobin and granulocyte colony-stimulating factor. He had poor prognostic factors such as extensive epidermal loss, neutropenia, acute respiratory distress syndrome and candida sepsis, but nonetheless made a complete recovery.