Is it possible to diagnose Wilson disease with a piece of skin?

Renal, skeletal, cardiac, and ophthalmic involvement in Wilson disease (WD) is well known. In this case report, high copper content and ultrastructural findings of skin of a patient with WD accompanied by xerosis are presented.

Dermatological signs in Wilson's disease.

BACKGROUND: Because no data on skin and mucosal findings of patients with Wilson's disease have been published so far, the aim of the present study was to investigate the prevalence of mucosal and skin findings in childhood Wilson's disease and to determine its specific dermatological findings, if any exist. METHODS: Thirty-seven 4-17-year-old children with Wilson's disease were included. A complete skin, scalp skin, mucous membrane and nail examination was performed. RESULTS: Of the children, 26 (70.3%) had at least one dermatological finding. Twenty-five (67.6%), five (13.5%), nine (24.3%) had at least one skin, mucosal and nail finding, respectively. The most prevalent dermatological diagnosis of the Wilson's disease patients was xerosis (45.7%). The presence of dermatological findings was not related to drug usage, severity of the disease, or malnutrition. The duration of the disease was not different in patients with or without dermatological findings. The frequency of skin findings alone, however, was high in relatively newly diagnosed patients (<2 years). CONCLUSION: Dermatologist should be aware of the various dermatological manifestations of Wilson's disease, because a careful and objective skin, mucosa, nail and hair examination may be indicative of a diagnosis of Wilson's disease, particularly in early cases.

Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.

Chanarin-Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. In order to not underdiagnose the cases, screening of lipid vacuoles in neutrophils from peripheral blood smears in patients with ichthyosiform erythroderma is needed. Few case reports revealing ultrastructural findings of skin and especially liver in that disorder were observed. Here we discuss clinical and electron microscopic findings of two siblings with CDS.

The effect of gastric Helicobacter pylori eradication on recurrent aphthous stomatitis.

BACKGROUND: Helicobacter pylori (H. pylori) has been suggested to be associated with recurrent aphthous stomatitis (RAS) as well as many other diseases. METHODS: We conducted a prospective study on a total of 23 patients with RAS to investigate the relationship between H. pylori and RAS as well as the effect of eradication therapy on the recurrence. All patients underwent endoscopic examination and gastric biopsy. The biopsy materials were examined histopathologically whether they contained H. pylori or not. The density of H. pylori was also noted. The patients with H. pylori infection were followed up for up to 1 year after starting the eradication therapy. RESULTS: Gastric mucosal H. pylori colonization was + in 39%, ++ in 39%, +++ in 9%, and - in 13% of the patients, respectively. There were statistically significant decreases in the recurrence rate and amelioration time of RAS by eradication therapy. There were no significant correlations among the intensity of H. pylori with the recurrence rate, number, diameter, and amelioration time of the lesions in 1-year follow-up. CONCLUSIONS: We concluded that eradication of H. pylori may have reducing effects on the recurrence and amelioration period of the RAS.

Demographic and clinical properties of juvenile-onset Behçet's disease: A controlled multicenter study.

BACKGROUND: Behçet's disease (BD) is a multisystemic inflammatory disorder of unknown origin. The disease usually occurs between the second and the fourth decades, whereas it is uncommon in children. OBJECTIVE: In this multicenter study, we aimed to describe the demographic and clinical features along with severity in juvenile- versus adult-onset BD. METHODS: Patients with initial symptoms at age 16 years or younger were considered as having juvenile-onset BD. In all, 83 patients with juvenile-onset BD (38 male and 45 female; mean age 19.6 +/- 7.6 years) and 536 with adult-onset (>16 years) BD (293 male and 243 female; mean age 39.2 +/- 10.1 years) who fulfilled the classification criteria of the International Study Group for BD were involved in the study. RESULTS: Familial cases were more frequent in juvenile-onset compared with adult-onset BD (19% vs 10.3%; P = .017). The mean age of disease onset was 12.29 +/- 3.54 years in juvenile-onset BD and 31.66 +/- 8.71 years in adult-onset BD. Mucocutaneous lesions and articular symptoms were the most commonly observed manifestations in both groups. The frequency of disease manifestations was not different between juvenile- and adult-onset BD, except neurologic and gastrointestinal involvement, which were higher in juvenile-onset BD than adult-onset BD (P = .027 and P = .024, respectively). Oral ulcer was the most common onset manifestation of both juvenile-onset (86.74%) and adult-onset (89.55%) BD. The frequencies of onset manifestations of BD were similar, except genital ulcer, which was higher in adult-onset BD (P = .025). LIMITATIONS: Our study consisted of patients with BD mainly applying to dermatology and venerology departments. Therefore, it can be speculated that this study includes rather a milder spectrum of the disease. CONCLUSIONS: Although the clinical spectrum of juvenile-onset BD seems to be similar to adult-onset BD, the frequency of severe organ involvement was higher. Because of the higher prevalence of familial cases in juvenile-onset BD, it can be speculated that genetic factors may favor early expression of the disease with severe organ involvement.

Comparison of the Tzanck test and polymerase chain reaction in the diagnosis of cutaneous herpes simplex and varicella zoster virus infections.

BACKGROUND: Although the diagnosis of herpes simplex virus (HSV) and varicella zoster virus (VZV) infections is usually made clinically, the Tzanck test, electron microscopy, viral culture, polymerase chain reaction (PCR), and serologic tests can be utilized to verify the diagnosis. METHODS: We conducted a study on a total of 98 patients (77 patients with recurrent herpes simplex and 21 patients with herpes zoster) to evaluate the reliability and reproducibility of the Tzanck test in comparison with PCR. RESULTS: In herpes virus infections, the general positivity rates of the Tzanck test and PCR were 61.2% and 79.6%, respectively. The difference between the positivity rates of the two tests was statistically significant. The positivity rates of the tests differed according to the type and duration of the lesions. CONCLUSIONS: Although PCR was superior to the Tzanck test, the Tzanck test has also been proven to be a reliable diagnostic method, with a sensitivity of 76.9% and a specificity of 100%. We recommend the use of this easy, quick, reproducible, and inexpensive diagnostic test more often in dermatologic practice, especially in cutaneous herpes virus infections.

Is metronidazole 0.75% gel effective in the treatment of seborrhoeic dermatitis? A double-blind, placebo controlled study.

The study aimed to evaluate the effectiveness of metronidazole 0.75% gel in patients with mild and moderate seborrhoeic dermatitis. Sixty-seven patients with seborrhoeic dermatitis were enrolled. Cases were randomly treated with metronidazole 0.75% gel or placebo for four weeks and were additionally followed up for another four weeks. Patients were evaluated by scoring before the treatment, once a week during the treatment and twice after the cessation of the treatment within a 15-day interval. Furthermore, patient satisfaction and doctor global evaluation were done at the end of the treatment and of the study as well. In the metronidazole group 33 patients (median age: 26, total severity score: 15.0 +/- 11.0 (median +/- interquartile range) and in the placebo group 34 patients (median age: 26, total severity score: 13.0 +/- 7.5) were enrolled in the study. Three patients from the metronidazole group and four patients from the placebo group did not attend to follow-up visits. Erythema, scales, papule, pruritus and the total severity scores in both group decreased significantly during the treatment when compared with the basal levels (p < 0.05). There was no difference between the two groups in terms of efficacy (p > 0.05). Total severity scores were found as 7.33 +/- 1.08 and 6.43 +/- 0.93 in the metronidazole and placebo groups at the end of the treatment, respectively. After the cessation of the treatment, all scores had increased rapidly. Total severity scores were 10.40 +/- 1.54 and 11.20 +/- 1.53 in the metronidazole and placebo groups one month after the cessation of the treatment, respectively. Both metronidazole 0.75% gel and the placebo were well tolerated by the patients. In conclusion, in the treatment of seborrhoeic dermatitis, administration of metronidazole 0.75% gel is well tolerated but it is only as effective as placebo and the disease severity quickly returns to the basal levels after the cessation of treatment.

The mucocutaneous manifestations associated with celiac disease in childhood and adolescence.

This study was performed to detect the prevalence of mucocutaneous manifestations of celiac disease in childhood and adolescence and to investigate the relationship between these findings and duration of disease and a gluten-free diet. The study included 55 children and adolescents with a mean age of 10.0 +/- 4.61 years (2-19 years). Mucocutaneous manifestations were evaluated with respect to age, gender, duration of illness, and of gluten-free diet and compliance with this diet. Cutaneous, mucosal, nail, and hair findings were detected in 74.5%, 27.3%, 20.0%, and 7.3% of patients, respectively. The most prevalent dermatologic diagnosis was xerosis (69.1%). No significant relationship was detected between the cutaneous findings and the duration of illness (p > 0.05). However, the duration was longer in patients with mucosal findings compared to those without mucosal findings (p < 0.05). It was found that all patients without cutaneous findings were on a strict gluten-free diet (p < 0.05). Ours is one of the few studies describing skin findings in children with celiac disease. We believe that both pediatricians and dermatologists should be aware of the various mucocutaneous manifestations of celiac disease, because a careful skin, mucosa, nail, and hair examination may lead to a diagnosis of celiac disease, particularly in atypical presentations.

High prevalence of glucose metabolism disturbance in patients with lichen planus.

AIM: To establish the prevalence of diabetes mellitus (DM) and insulin resistance in patients with lichen planus (LP), and to examine whether diabetic status showed any relation with the type of LP. PATIENTS AND METHODS: Thirty patients with LP and 30 age, weight, and sex matched volunteers were included. Serum fasting glucose, insulin, hemoglobin A1c levels were determined, a standard oral glucose tolerance test (OGTT) was performed. RESULTS: Of patients with LP, eight (26.7%) had DM (four newly diagnosed), however, only one (3.33%) diagnosed as DM in control group (p=0.007). Six patients (20.0%) with LP and four healthy persons (13.3%) had IGT (p>0.05). Glucose metabolism disturbance (DM+IGT) was detected in 14 (46.7%) of the patients and in 5 (16.7%) of the controls (p=0.026). HbA1c, fasting serum glucose, and insulin resistance (HOMA) were statistically higher in patients compared to controls. CONCLUSION: Our finding documented that approximately one half of the patients with LP had glucose metabolism disturbance, and one fourth had DM. We believe that further studies are needed to explain this close relationship between DM and LP.

Psoriasis in childhood and adolescence: evaluation of demographic and clinical features.

BACKGROUND: The present study was aimed to define the gender ratio, familial occurrence, age of onset, precipitating factors, clinical types, nail and joint involvement of psoriasis in childhood and adolescence in Turkey. METHODS: A total of 61 children with psoriasis under 18 years old were evaluated retrospectively, for age, gender, age of disease onset, family history, concomitant disease, the clinical type of psoriasis, clinical localization, nail and joint involvement and treatment modalities. RESULTS: Of the patients, 23 (37.70%) were boys and 38 (62.30%) were girls. Mean age was 9.28 +/- 4.02 years in girls and 11.18 +/- 3.85 years in boys (9.96 +/- 4.03 years in all children). Mean age at the onset of the disease was 6.81 +/- 4.11 years in girls and 7.03 +/- 4.28 years in boys (6.89 +/- 4.14 years in all patients). In 14 (23%) cases, a positive family history was detected. The most frequent probable triggering factors were upper respiratory tract infections (14.8%) and positive throat culture for A group ss-hemolytic streptococcus (21.3%). Frequency of emotional stress and psychiatric morbidity were 54% and 9.8%, respectively. The most frequent localizations at onset were trunk (44.3%), extremities (54.0%), and scalp (36.0%). Three children (4.9%) had a history of dissemination from psoriatic diaper rash. In total, 51 (83.6%) patients presented with psoriasis vulgaris, eight (13.1%) with generalized pustular psoriasis, and the remaining two (3.3%) with erythrodermic psoriasis. CONCLUSION: The incidence of psoriasis among dermatological patients in childhood and adolescence was 3.8%. The disease tends to appear earlier in girls than boys. The authors suggested that stress and upper respiratory infections are the most important triggering factors in childhood and adolescence psoriasis.

Ultrastructural clues for the potent therapeutic effect of melatonin on aging skin in pinealectomized rats.

Recently we have reported a significant reduction in the thickness of epidermis and epidermis + dermis in the back, abdominal and thoracic skin of the long-term pinealectomized rats and the potent therapeutic effect of melatonin on the pinealectomy-induced morphometric changes. The present study was aimed to determine the fine structure of the abdominal and thoracic skin in pinealectomized rats and the effect of melatonin on skin ultrastructure. Rats were pinealectomized or sham operated (control) for 6 months. Half of the pinealectomized rats were treated with 4 mg/kg melatonin during the last month of the experiment. Pinealectomy resulted in prominent ultrastructural changes in the skin. Epidermal atrophy, disorganization and cytological atypia were obvious. Tonofilament distribution was not uniform, and intercellular space was narrow. Nuclear irregularity and heterochromatin condensation were detected. Many mitochondria were irregular and edematous with increased translucence of the matrix, either partial or total destruction of crests and frequently the presence of vacuoles, myelin figures and dense bodies. Microprojections of basal cells into the dermis were observed. The dermis was thin, and collagenous fibers were loosely arranged. The epidermis in melatonin administered pinealectomized rats was obviously thicker than that of pinealectomized rats. The cells of each layers had characteristic morphological and ultrastructural features. Nuclear irregularity and heterochromatin condensation were not seen. Mitochondria were generally normal in ultrastructural appearance but rarely vacuoles and myelin figures were observed. The dermis was thick, and collagenous fibers were closely packaged. This paper provides an additional ultrastructural evidence that the damage to mitochondria is the major contributory factor to skin aging and that melatonin has potent therapeutic effects in reducing age-related changes via protecting fine structure of the skin.

Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease.

Acrodermatitis enteropathica-like eruptions, not related to zinc deficiency, have been rarely reported in some metabolic disorders. Reported patients usually had low levels of essential amino acids, particularly isoleucine. Here we report a girl who first presented with an acrodermatitis enteropathica-like eruption and eventually had the diagnosis of Hartnup disease with a normal isoleucine level. We discuss the probable cause of her skin lesions and the differential diagnosis with pellagra.

Ultrastructural findings and tumor necrosis factor-alpha and intercellular adhesion molecule-1 expression in psoriasis patients before and after oral cyclosporin A therapy.

Elevated levels of proinflammatory cytokines, including tumor necrosis factor-alpha, are found in skin lesions and plasma of patients with psoriasis. Clinical improvement of psoriasis with cyclosporin A treatment is accompanied by downmodulation of proinflammatory epidermal cytokines. In this study to determine the effects of cyclosporin A on the ultrastructural changes and tumor necrosis factor-alpha and intercellular adhesion molecule-1 expression in psoriasis, biopsy specimens before and after cyclosporin A treatment were evaluated ultrastructurally and immunohistochemically. Ten patients were given 3-7.5 mg/kg oral cyclosporin A for 6 months. Before and after treatment full thickness of 4-mm punch biopsies were obtained from patients and from 6 healthy volunteers. Samples were processed for electron microscopic and immunohistochemical evaluation. The treatment was well tolerated with complete clinical improvement. The ultrastructural changes such as reduction of tonofilaments, dilatation of intercellular space, and interruption in lamina densa were recovered by cyclosporin A treatment. The increased staining intensity of tumor necrosis factor-alpha and intercellular adhesion molecule-1 on epidermal keratinocytes and endothelial cells was reduced after cyclosporin A therapy. Cyclosporin A treatment results in total normalization of the electron microscopic picture of psoriasis and its beneficial effect depends on the direct inhibition of tumor necrosis factor-alpha and consequently intercellular adhesion molecule-1.

Monilethrix: improvement with acitretin.

Monilethrix is a rare hereditary disorder that affects the hair and is characterized by shaft anomaly. There is no known treatment that successfully cures the condition. In this report we present a case of monilethrix in a 7-year-old girl treated with oral acitretin. A very good clinical and cosmetic result was obtained while treatment was continued. However, clinical symptoms recurred after discontinuation of acitretin therapy.

Incidence of Demodex folliculorum in patients with end stage chronic renal failure.

BACKGROUND: Demodex folliculorum (DF), found in the pilosebaceous unit, is the most common ectoparasite in humans. It has been implicated in various clinical lesions such as pustular folliculitis, papulopustular scalp eruption, perioral dermatitis, and skin lesions of immunosuppressed patients on chemotherapy or with acquired immunodeficiency syndrome (AIDS). OBJECTIVE: We aimed to determine DF carriers and location of DF among patients on chronic dialysis because of end stage renal failure (ESRF), to compare them with healthy controls, and to examine the relationship between DF incidence and dialysis method and symptoms. METHODS: Sixty-seven patients on dialysis and 67 healthy controls were taken into the study. The patient groups were classified according to the diseases causing ESRF [diabetes mellitus (DM), polycystic disease (PCD), glomerulonephritis (GN), hypertensive nephrosclerosis (HTNS), others (OT), unknown etiology (UE)], and mode of dialysis. Five standardized skin surface biopsies (SSSB) were taken. The determination of five and more living parasites/cm2 area was diagnosed as infestation. RESULTS: The mean mite count in the ESRF group, 6.12/cm2, was significantly higher than that in controls, 0.31/cm2, (Independent Samples Test, p=0.000). The DF positivity according to primary disease causing ESRF revealed that it was most frequent in DM with 12 patients (44.4%), followed by UE with nine patients (33.4%). CONCLUSIONS: Our findings indicate that the DF number is increased in ESRF patients on dialysis treatment. We recommend that demodicidosis should be included in the differential diagnosis of facial eruptions in patients with ESRF.

Potent therapeutic effect of melatonin on aging skin in pinealectomized rats.

It is generally agreed that one of the major contributors to skin aging is reactive oxygen species. As organisms reach advanced age, free radical generation increases and the activity of tissue antioxidant enzyme system decreases. Melatonin is an antioxidant and free radical scavenger. The present study was first aimed to determine the morphometric and biochemical changes caused by long-term pinealectomy in order to investigate the role of melatonin as skin architecture. Secondly, the effect of exogenous melatonin administration on these changes was determined. Rats were pinealectomized or sham operated (control) for 6 months. Half of the pinealectomized rats were treated with 4 mg/kg melatonin during the last month of the experiment. Pinealectomy resulted in important morphometric and biochemical changes in the back, abdominal and thoracic skin. The thickness of epidermis and dermis and the number of dermal papillae and hair follicles were reduced. Melatonin administration to pinealectomized rats significantly improved these alterations in all body areas (P < 0.005). On the contrary, in pinealectomized rats the levels of antioxidant enzymes, catalase and glutathione peroxidase were decreased. Melatonin restored the levels of these enzymes. The pinealectomy-induced increases in lipid peroxidation in the abdominal and thoracic skin were significantly reduced by melatonin treatment (P < 0.005 and 0.01 respectively). These results suggest that melatonin is highly efficient anti-aging factor and, as melatonin levels decrease with age, melatonin treatment may reduce age-related skin changes.