Keloid formation on an inconspicuous penis.

Inconspicuous penis is an umbrella term used to categorize several anatomic anomalies that occur in newborn boys. The consequences of this anomaly may be catastrophic unless it is accurately diagnosed. Repeated circumcisions will accentuate the problem without any solution. Keloid formation on the penis is exceptionally rare even though circumcision is a world-wide procedure. Herein, we present a 13-year-old boy with a buried glans penis, micturation difficulty, and keloid formation. He was previously circumcised twice before admission to our clinic. A surgical correction together with intralesional steroid injection was performed. The outcome of this procedure was satisfactory. We conclude that repeated circumcision may not be the best choice of treatment for keloid formation on the penis.

A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.

Mal de Meleda is a rare form of palmoplantar keratoderma, and recently mutations in the ARS (component) B gene have been identified in families with this disease. We identified a recurrent nonsense mutation, R96X, in four families of Turkish descent. In this report, we demonstrate that these families share a common ancestral haplotype at the mal de Meleda locus, suggesting a founder effect.

The role of oxidants and antioxidants in generalized vitiligo.

Oxidative stress may be induced by increasing the generation of reactive oxygen species (ROS) and other free radicals. The generation of ROS is known to be associated with a decrease in antioxidant levels. In the present study, the role of oxidative stress was assessed in the pathogenesis of generalized vitiligo. Superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), and glutathione (GSH) levels in erythrocytes and serum malondialdehyde (MDA) and nitric oxide (NO) levels were investigated in 24 patients with generalized vitiligo and 20 healthy controls. Our results indicated that significantly increased levels of erythrocyte SOD, serum MDA, and NO were associated with a marked reduction of erythrocyte GSH-Px and GSH activities in patients with generalized vitiligo (p<0.05). Our observations suggest that the presence of an imbalance in the oxidant-antioxidant system might play a role in the pathogenesis of vitiligo. Our results further support the concept that free radical-mediated damage may be the initial pathogenic event in melanocyte degeneration in generalized vitiligo.

The significance of serum nitric oxide levels in Behçet's disease and recurrent aphthous stomatitis.

Behçet's disease (BD) is an inflammatory multisystem disorder characterized by recurrent oral and genital aphthous ulcers, arthritis, uveitis, and thrombophlebitis; it can involve several organs. However, recurrent aphthous stomatitis (RAS) can be seen without a confirmed diagnosis of BD. Moreover, there is no way of predicting whether a patient with RAS will develop BD. Nitric oxide (NO) is a free radical synthesized from L-arginine by one of the family of nitric oxide synthase (NOS) enzymes. Increased production of NO during several inflammatory and infectious processes has been recently postulated. Our aim was to investigate the serum NO levels in patients with active and inactive BD and RAS. Forty-six patients with BD, 30 patients with RAS and 30 healthy controls were enrolled in the study. The patients with BD were separated into two groups: clinically active (n = 24) and inactive (n = 22). A blood sample was collected from all subjects in order to determine their serum NO levels. In patients with active BD, higher serum levels of NO metabolite were found in comparison with patients with inactive BD, in patients with RAS, or healthy controls (p < 0.05). We also found higher serum NO metabolite levels in patients with RAS than in healthy controls (p < 0.05). In patients with inactive BD, statistically significant higher levels of serum NO levels were found in comparison with the control group (p < 0.05). However, we found no statistically significant difference between the patients with inactive BD and RAS, which indicated that inactive BD cannot be distinguished from RAS by serum NO levels. We conclude that serum NO levels may be an important marker for estimating the severity of BD. However, further studies are needed to confirm our findings.

Serum Levels of IL-4, IL-10, IL-12, IL-13 and IFN-gamma in Behçet's disease.

Behçet's disease (BD) is an inflammatory disease of unknown etiology. Although its pathogenesis is not fully understood, recent studies have suggested that immunological abnormalities and neutrophil hyperfunction may be involved in its etiology and pathophysiology. The immune system in BD can be characterized as a divergent cytokine production profile of the mixed Th1/Th2 cell type. In this study, we investigated the levels of interleukin (IL)-4, IL-10, IL-12, IL-13 and interferon-g in the sera of patients with BD, in comparison with recurrent aphthous stomatitis and healthy controls, to determine the Th1/Th2 profile of the disease. The levels of IL-4, IL-10 and IL-13 were found to be high in active BD patients, and IL-12 and interferon-gamma levels were lower in active BD patients than in inactive BD, recurrent aphthous stomatitis, and control patients.

Colon carcinoma with synchronous subcutaneous and osseous metastasis: a case report.

Colon cancer usually metastasizes initially to regional lymphatics and later through the bloodstream. Hematogenous metastasis usually includes the liver, lungs, and brain. In colorectal cancer, osseous and/or subcutaneous metastasis without liver metastasis is a very uncommon event. We present here a case of colon adenocarcinoma, which synchronously metastasized to facial and other subcutaneous tissue and to bone within a short period after definitive therapy. Although such a pattern is uncommon, diagnostic biopsy for any new or suspicious lesion of the skin and bone scintigraphy for symptomatic patients should be done for patients with a colorectal cancer history.

Chemotherapy of disseminated cutaneous classic Kaposi's sarcoma with vinblastine.

Classic Kaposi's Sarcoma (KS) is a rare indolent cutaneous malign proliferative disease affecting predominantly elderly men of Mediterranean and Jewish origin. Classic KS generally does not require treatment for a prolonged time. Systemic therapy is indicated for patients with advanced disease. We present here a 78-year-old woman with disseminated cutaneous classic KS who was successfully treated with single agent vinblastine. Vinblastine is very effective, less toxic and less costly in the treatment of elderly patients with disseminated classic KS.

Notalgia paresthetica with a significant increase in the number of intradermal nerves.

Notalgia paresthetica is an isolated mononeuropathy involving the skin over or near the scapula. The cause remains unknown. We histologically observed a significant increase in the number of dermal nerves in a case of notalgia paresthetica. Immunohistochemical examination using a neural marker, S-100, positively stained the nerves. Interestingly, a biopsy from perilesional skin also showed an abnormal nerve proliferation.

An aggressive treatment for aggressive digital papillary adenocarcinoma.

Aggressive digital papillary adenoma (ADPA) and adenocarcinoma (ADPAca) are adnexal tumors that are not often recognized because of their rarity. We present a rare case of ADPAca involving the left middle finger of a 43-year-old man. Histopathological features of ADPAca are distinct from those of other eccrine sweat gland tumors; however, ADPAca may be misdiagnosed particularly for a metastasis of papillary adenocarcinoma originating in the colon, thyroid, or breast. Clinicopathological correlation is essential to ule out a possible risk of metastatic carcinoma of the skin. Recognition of these tumors is important because of a potential risk of local recurrence nd distant metastases. Aggressive surgical treatment consisting of digit amputation is advocated in the treatment of ADPAca.

Serum concentrations of interleukin-2 and tumour necrosis factor-α under cyclosporine versus acitretin treatment in plaque-type psoriasis.

OBJECTIVE: A prospective, randomized clinical study to compare the short-term effects of cyclosporin and acitretin on psoriasis severity, and serum interleukin (IL)-2 and tumour necrosis factor (TNF)-α concentrations. METHODS: Patients with moderate-to-severe plaque-type psoriasis were randomly assigned to receive either 3 mg/kg per day cyclosporine or 0.3-0.5 mg/kg per day acitretin for 8 weeks. Disease severity (psoriasis area severity index [PASI] score) and serum IL-2 and TNF-α concentrations were determined before and after treatment. RESULTS: PASI scores and serum IL-2 and TNF-α concentrations were significantly decreased after treatment with either cyclosporine (n = 21) or acitretin (n = 25). There were no statistically significant between-group differences in any parameter. CONCLUSIONS: Acitretin and cyclosporine are equally effective in the treatment of moderate-to-severe plaque-type psoriasis.

Association of serotonin transporter gene-linked polymorphic region and variable number of tandem repeat polymorphism of the serotonin transporter gene in lichen simplex chronicus patients with psychiatric status.

BACKGROUND: The serotonin (5-hydroxytryptamine; 5-HT) is a key neurotransmitter in the central nervous system and a responsible mediator for the itch. Dysregulation of serotonergic pathways has been implicated in the pathogenesis of many complex neuropsychiatric diseases. OBJECTIVES: The purpose of this study was to evaluate the relationship between lichen simplex chronicus and dysfunction and serotonin transporter (5-HTT) gene polymorphism. METHODS: Thirty-nine patients with lichen simplex chronicus and 61 healthy control subjects were examined. RESULTS: The results for the patients and control subjects were not significantly different (P > 0.05) in long/long (L/L) and long/short (L/S) genotypes of 5-HTT gene-linked polymorphic region (HTTLPR) polymorphism, but short/short S/S genotype was lower in lichen simplex chronicus patients (17.9%) than in controls (42.6%). This difference was statistically significant (P = 0.028). The results for the patients and control subjects were not significantly different in 12/12, 10/12 and 10/10 genotypes of variable number of tandem repeat (VNTR) polymorphism (P > 0.05). Beck depression inventory (BDI) scores and symptom checklist-90-revised (SCL-90) psychotic subscale were overrepresented significantly in the 12/12 genotypes than 10/12 genotypes. State and Trait Anxiety Inventory tests (STAI-I and -II) point averages were not statistically significant (P > 0.05) CONCLUSION: S/S genotypes of HTTLPR polymorphism in the 5-HTT gene may be related to lichen simplex chronicus and that patients who have 12/12 genotypes of VNTR polymorphism may be affected psychiatrically.

Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment.

A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. Physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). Bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin G (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).

Facial linear focal elastosis: a case report.

BACKGROUND: Linear focal elastosis is an uncommon disorder that clinically shows band-like stria and a histological focal increase in elastic fibers. The disorder preferentially affects men after the age of 60 years and occurs on the lower back. The pathogenesis of linear focal elastosis is still somewhat of an enigma. METHOD: A 50-year-old farmer presented with an unusual linear lesion on the left side of his chin. The patient was frequently exposed to sun because of fieldwork for a period of more than 40 years. RESULTS: Skin biopsy specimen revealed a massive abnormal collagen deposition extending from the subpapillary dermis to the lower dermis with numerous wavy bundles of fibers. Elastin van Gieson stain for elastic fibers showed that abnormal elastic fibers were increased within a massive abnormal collagen deposition. Diagnosis of facial linear focal elastosis was made after clinicopathological correlation. CONCLUSION: Facial involvement of linear focal elastosis has not been reported previously in the literature. It has been suggested that sunlight has a minor role in the development of elastotic change in linear focal elastosis. However, our patient was a farmer and was exposed to sunlight frequently for a period of more than 40 years, suggesting that ultraviolet radiation may play a role in the pathogenesis of linear focal elastosis.

The significance of immunohistochemistry in the skin pathergy reaction of patients with Behçet's syndrome.

BACKGROUND: Behçet's syndrome is a chronic systemic immuno-inflammatory disorder affecting multiple organs with generalized vasculitis of arteries and veins. Although the aetiology is still unknown, endothelial dysfunction is one of the most prominent features in Behçet's syndrome. The skin pathergy reaction (SPR) is a non-specific hyperreactive lesion formation that is one of the major features and diagnostic criteria of the disease. It develops after 24-48 h at the site of the needle-prick, especially in the exacerbation period, and it is very similar to the erythematous papules or pustules that appear spontaneously in patients with Behçet's syndrome. Therefore, an investigation into the formation of the SPR lesion may contribute to the pathophysiology of skin lesions of this unique disorder. OBJECTIVE: To evaluate the immunological features of SPR formation by assessing the immunohistochemical staining of cell adhesion molecules and endothelial growth factor markers such as E-selectin, P-selectin and endoglin (CD 105). METHODS: Patients with Behçet's syndrome showing positive (n = 15) or negative (n = 10) SPR and 15 age- and sex-matched hospital-based healthy control subjects from a similar ethnic background were included in this study. Patients were divided into active and inactive stage by clinical findings and acute-phase reactant parameters including erythrocyte sedimentation rate (ESR) and neutrophil count. Punch biopsy specimens were obtained both from the lesion site on the forearms at 48 h and from normal skin approximately 5 cm adjacent to the SPR site. A biopsy was also obtained from the test application site in Behçet's syndrome patients with negative SPR and healthy volunteers. Biopsy specimens were then evaluated by immunohistochemical staining. RESULTS: Immunohistochemical examination demonstrated a mixed inflammatory cell infiltrate around the vessels and skin appendages that extended somewhat into the deep dermis. A positive segmental staining of E-selectin and P-selectin was noted in the endothelial cells of biopsies obtained from the patients with positive SPR. A positive segmental staining of CD 105 in the endothelial cells was also observed in the same group of patients. However, the immunostaining of the same markers was found to be negative in the biopsies obtained from normal skin of SPR-positive patients, SPR-negative patients and healthy control subjects. Both acute-phase reactant levels were significantly higher in the active stage than in inactive patients or healthy controls. CONCLUSION: Interaction of cellular adhesion molecules together with endothelial proliferation may play an important role in the formation of SPR lesions in patients with Behçet's syndrome. The involvement of the vascular endothelium in a large number of diseases including Behçet's syndrome supports the importance of vascular-specific adhesion molecules for their aetiopathogenesis.

Extensive inflammatory nevus comedonicus involving half of the body.

Nevus comedonicus is an uncommon variant of adnexal hamartoma without known cause. It usually occurs on the face, neck and chest and appears as groups of closely arranged dilated follicular openings with keratin plugs. We report extensive inflammatory nevus comedonicus in a 14-year-old boy involving half of his body, limited by the midline, with suppuration and residual scarring. The lesions first appeared at 3 years of age and worsened at the start of puberty. The clinical features, etiopathology, histopathology and treatment options of nevus comedonicus are briefly reviewed in the light of the literature.

Coexistence of tumor of the follicular infundibulum with an unusual trichilemmal tumor.

Tumor of the follicular infundibulum (TFI) is a rare epithelial tumor, and its histogenesis is still somewhat debatable. The diagnosis of TFI cannot currently be made before biopsy, and it is most often misdiagnosed as basal cell carcinoma (BCC). A 78-year-old woman presented to the dermatology clinic with a slightly erythematous nodule surrounded by fine telangiectasia on her right temple. Histopathologic examination of the lesion revealed an epithelial tumor with a plate-like growth pattern as is typical of TFI. In the same specimen, an unusual trichilemmal tumor with multiple epidermal connections was observed adjacent to the foci of TFI. The lobular tumor was composed of a large mass of keratinocytes with pale cytoplasm arranged as sheets and interconnecting ribbons. Several cells with hyperchromatic nuclei and small foci of compact cornification were also noted within the bulk of the tumor. The histopathologic features of the unusual tumor were reminiscent of BCC with trichilemmal differentiation or desmoplastic trichilemmoma.

Increased nitric oxide production in patients with Behçet's disease: is it a new activity marker?

BACKGROUND: The origin of Behçet's disease (BD) is unclear. One of the prominent features of BD is vasculitis and thrombosis as a result of endothelial dysfunction. Because nitric oxide (NO) is synthesized by endothelium, we considered it as an interesting target of investigation in BD. OBJECTIVE: Our purpose was to define the level of NO in the serum of patients with BD and its relation with disease activity. METHODS: As an indicator for NO, serum total nitrite levels (end product of NO) were measured by Griess reaction in 52 consecutive patients with BD and compared with 32 age- and sex-matched healthy staff volunteers. Serum NO levels of active and inactive patients were compared. RESULTS: The overall serum nitrite levels in patients with BD (40.25 +/- 10.51 micromol/L) were significantly higher (P <.001) than those in healthy volunteers (25.09 +/- 5.33 micromol/L). The difference in serum total nitrite levels among patients with active BD (46.74 +/- 10.62 micromol/L) and inactive BD (33.24 +/- 3.73 micromol/L) was significant (P <.001). Significant differences were observed in serum nitrite levels between patients in the inactive period of BD and the control group (P <.001). CONCLUSION: Increased NO production might be responsible for the overall inflammatory process of BD. NO seems to be related to disease activity.

The effects of EGb 761 on lipid peroxide levels and superoxide dismutase activity in sunburn.

BACKGROUND/PURPOSE: Free oxygen radicals are involved in inflammatory skin reactions induced by ultraviolet B (UVB). In this study, the effect of a herbal antioxidant Ginkgo biloba extract (EGb 761) was investigated in UVB irradiated mice skin. METHODS: The study was carried out on four groups of mice (n = 6 in each group). The first group was a control group (G1). The second group (G2) was only exposed to acute UVB irradiation. The third group (G3) received 100 mg/kg/day of EGb 761 orally for 5 days before UVB irradiation and the fourth group (G4) was given only a single dose of EGb 761 immediately after UVB irradiation. Eighteen hours after exposing to UVB, lipid peroxide levels, and superoxide dismutase (SOD) activities were studied and UVB damage was evaluated histopathologically according to "sun-burn cell count". RESULTS: The SOD activities and Malondialdehyde (MDA) levels in G2, G3 and G4 were found to be decreased significantly when compared with G1 (P < 0.05). The SOD activities of G3 and G4 were higher when compared with G2 (P < 0.05). The number of sunburn cells (SBCs) was the highest in G2. CONCLUSIONS: Our results suggest that EGb 761 may have an important effect, both as a protective and therapeutic agent, in sunburn after UVB irradiation.