A patient with widespread skin lesions presenting with massive pleural effusion.

Mycosis fungoides is the most commonly seen type of cutaneous T-cell lymphoproliferative disease. While mycosis fungoides is linked to an increased risk of developing secondary malignancies, the occurrence of B-cell-originated disease in association with it is exceedingly rare. A 66-year-old male with persistent papillomatous skin eruption was admitted due to dyspnea. Chest X-ray, positron emission tomography, and chest computed tomography revealed axillary and mediastinal lymph node enlargement and right lower pulmonary lobe infiltration along with right-sided massive pleural effusion. Histological and immunohistochemical findings of pleural biopsy and axillary lymph nodes suggested a diagnosis of pulmonary extranodal marginal zone lymphoma. Skin biopsies from the abdomen, chest, and legs revealed CD4/CD8 double-positive patch stage of mycosis fungoides. After completing six cycles of chemotherapy, complete remission of lymphoma was achieved, with the skin eruptions remaining unchanged. Herein, the authors present a unique case of concomitant diagnoses of mycosis fungoides and marginal zone B-cell lymphoma of the respiratory system to emphasize the importance of careful evaluation of each finding.

Link between childhood tobacco exposure and childhood psoriasis: A case-control study.

INTRODUCTION: Childhood psoriasis is not uncommon, and its prevalence is estimated to be 128 per 100,000 children. There are sparse data regarding intrauterine and environmental tobacco smoke exposure and the development of psoriasis in childhood. In this study, we aimed to investigate these parameters in the Turkish pediatric population. MATERIALS AND METHODS: We included 130 children with psoriasis and 390 children as controls. For each risk factor, odds ratios of psoriasis as an estimate of relative risks and corresponding 95% confidence interval were calculated. Univariate conditional logistic regression analysis was used to determining the crude odds ratio. Subsequently, to evaluate the effects of potential confounding factors, multivariate conditional logistic regression analysis was used. RESULTS: Childhood psoriasis (CP) was found to be associated with environmental tobacco smoke exposure irrespective of intrauterine smoking exposure, family history of psoriasis, and obesity (OR: 2.23, 95% CI = 1.39-3.58), whereas multiple logistic regression analysis did not show a relationship between CP and intrauterine tobacco exposure (OR: 1.61, 95% CI = 0.75-3.43). CONCLUSIONS: Environmental tobacco smoke exposure at home denotes an important preventable risk factor for developing CP. Further studies are needed to elucidate the relationship between CP and environmental tobacco exposure investigating a large cohort of CP patients who have been diagnosed by expert dermatologists.

Evaluation of the correlation between scales determining disease severity in patients with moderate-severe chronic plaque-type psoriasis.

BACKGROUND: Psoriasis is a chronic erythematous-squamous disease. The results of studies related with the correlation between methods used in determining disease severity are contradictory. AIMS: The aim of this cross-sectional study is to evaluate the correlation between Psoriasis Area and Severity Index (PASI) and body surface area (BSA) involvement which are used to determine psoriasis severity and which are evaluated by the physician and Dermatology Life Quality Index (DLQI) and Psoriasis Disability Index (PDI) which are evaluated by the patients. METHODS: Demographic data, PASI, BSA, DLQI, and PDI values of the patients were recorded. The correlation between the scales was evaluated. RESULTS: 51 patients, 11 female (21.6%) and 40 male (78.4%), were included in the study. Average age was found as 44.76 ± 11.14, while average disease duration was found as 20.74 ± 7.94. Average PASI, BSA, DLQI and PDI values were found as 17.27 ± 7.49, 33.90 ± 13.87, 15.09 ± 7.48, 23.58 ± 10.20, respectively. In the evaluation of the correlation between the scales, while PASI was found to be correlated with BSA involvement (r = 0.780 P = .000), DLQI and PDI were not found to be correlated. On the other hand, correlation was also found between DLQI and PDI (r = 0.641 P = .000). CONCLUSION: There is no correlation between physical assessment methods (PASI, BSA) and quality of life scales (DLQI, PDI).

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.

Sterol-C4-methyl oxidase (SC4MOL) deficiency was recently described as an autosomal recessive cholesterol biosynthesis disorder caused by mutations in the MSMO1 (sometimes also referred to as SC4MOL) gene. To date, 5 patients from 4 unrelated families with SC4MOL deficiency have been reported. Diagnosis can be challenging as the biochemical accumulation of methylsterols can affect global development and cause skin and ocular pathology. Herein, we describe 2 siblings from a consanguineous Turkish family with SC4MOL deficiency presenting with psoriasiform dermatitis, ocular abnormalities (nystagmus, optic hypoplasia, myopia, and strabismus), severe intellectual disability, and growth and motor delay. We undertook whole-exome sequencing and identified a new homozygous missense mutation c.81A>C; p.Asn27Thr in MSMO1. Segregation analysis in all available family members confirmed recessive inheritance of the mutation. The siblings were treated with a combination of oral and topical statin and cholesterol which resulted in clinical improvement. This study demonstrates how genomics-based diagnosis and therapy can be helpful in clinical practice.

A rare cause of secondary hemophagocytic lymphohistiocytosis: systemic loxoscelism.

BACKGROUND: Loxoscelism is caused by the bite of a specific spider type called the Loxosceles genus. In Turkey, most cases are seen after L. rufescens bites. Clinical manifestation of the bites ranges from local cutaneous reaction to severe ulcerative necrosis. Systemic loxoscelism may also occur. CASE: Herein, we report a previously healthy five-year-old male patient who developed a secondary hemophagocytic lymphohistiocytosis after a presumed brown spider bite. He was treated with dexamethasone. Within the following 14 days, hemophagocytic syndrome resolved. Local hyperbaric oxygen therapy was applied to the necrotic areas. CONCLUSION: Secondary hemophagocytic lymphohistiocytosis may develop after systemic loxoscelism. In the presence of persistent fever, hepatosplenomegaly and laboratory findings this clinical entity should be kept in mind.

Assessment of Life Quality Index and Treatment Efficacy in Psoriasis Vulgaris Patients Receiving Biologic Therapies in a Turkish Population.

The introduction of biologic therapy has resulted in a major change in treatment efficacies, especially in conventional treatment-resistant psoriasis patients. This study is to assess the efficacy of biologic agents in conventional treatment-resistant patients regarding Psoriasis Area and Severity Index (PASI) and Dermatology Life Quality Index (DLQI) after therapy. Patients were monitored prospectively for 24 weeks after the initiation of etanercept, adalimumab, or ustekinumab therapy. PASI 75/90/100 responses and the number of patients with 0/1 DLQI score were compared. In the patients who used etanercept, adalimumab, and ustekinumab therapies, PASI 75 responses were found as 61.5%, 57.9%, and 84.6%, respectively, in the 12th week, while they were found as 72.7%, 76.9%, and 90.9% in the 24th week, and no statistically significant difference was found between the three groups (P > 0.05). The percentage of patients who had a DLQI score of 0 and 1 were 30.8%, 42.1%, and 38.5% in the 12th week (P = 0.92) and 36.4%, 61.5%, and 45.5% in the 24th week (P > 0.45) for etanercept, adalimumab, and ustekinumab therapies, respectively. As a result, no significant differences were found between biologic agents concerning improvement in both clinical response (PASI and VYA) and quality of life (DLQI and PDI).

A rare case of malignant syphilis after adalimumab therapy due to Crohn's disease associated with bariatric surgery.

Malignant syphilis (also known lues maligna) is a rare and severe variant of secondary syphilis. It is most commonly seen in patients who are infected with human immunodeficiency virus (HIV), and rarely, it can occur in immunocompetent individuals. The exact mechanism of the development of malignant syphilis is not clear. It could probably be associated with immunosuppression, inappropriate immune response of the host, or virulent strain of Treponema pallidum. Coexistence of immunosuppression and inappropriate immune response may predispose to develop malignant syphilis in HIV-infected patients with immune reconstitution inflammatory syndrome. Herein, we report the first case of malignant syphilis after adalimumab therapy for Crohn's disease due to bariatric surgery and discuss the underlying possible pathogenic mechanisms.

Hidradenitis suppurativa: Clinical characteristics and determinants of treatment efficacy.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder that causes a significant decline in quality of life. There are numerous treatment options; however, real-life data on the efficacy of these treatments is limited. This study was performed in two centers to describe clinical characteristics and assess treatment outcome in a cohort of 139 patients with HS. Data on demographic and clinical characteristics, Hurley stage and comorbidities were collected from patient charts and evaluated retrospectively. Treatment response was measured with HS clinical response index (HISCR). Mean body mass index was 27.8±4.88. Inflammatory comorbidities were present in 23%. Among first-line drugs systemic doxycycline resulted in 60% HISCR followed by rifampicin-clindamycin combination (46.4%). Isotretinoin had the lowest HISCR (30.7%) in this group. For second-line therapies, all acitretin treated patients achieved response and patients treated with tumor necrosis factor alpha (TNF-α) inhibitors had the highest HISCR. Currently recommended first-line therapies have moderate efficacy in HS. Acitretin appears to be a reasonable alternative for the highly effective TNF-α inhibitors in patients with severe and resistant HS. Overall, these results support that excessive inflammatory response play an important role in pathogenesis of HS.

Leprosy: A great imitator.

In recent years, advances in medical diagnosis and treatment have greatly attracted our attention, whereas some rare diseases, such as leprosy, have not found a place in the medical education curriculum; their existence may even be forgotten. Although the prevalence and incidence rates for leprosy have been significantly reduced as a result of the control strategies of the World Health Organization, new cases still appear. A total of 214,783 new cases were reported from 143 countries during 2016, corresponding to the global new-case detection rate of 2.9 per 100,000 population. Leprosy proves to be a very interesting model due to its immunologic properties. It joins with syphilis, mycosis fungoides, cutaneous tuberculosis, and sarcoidosis as one of the great imitators. The diagnosis of leprosy can be simple and practical, but considering the diagnosis of leprosy in the differential diagnosis is the first requisite again.

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.

Familial Mediterranean fever patients with hidradenitis suppurativa.

BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS. OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF). METHODS: Case study. RESULTS: Besides FMF and HS, the first patient had acne conglobata, and the second patient had pyoderma gangrenosum and ankylosing spondyloarthropathy. Both patients had M694V/V726A MEFV gene mutations. CONCLUSION: PASH and PAPASH have recently been associated with genetic alterations of gene encoding proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1), which interacts with the product of MEFV gene in the autoinflammatory pathway. This intriguing molecular interaction may explain shared phenotypic characteristics seen in genetic defects. Association of one more autoinflammatory disorders with HS adds another brick to the wall.

Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare subepidermal bullous disease. Long-term remission in this disease is difficult using current treatments, unlike that in patients with other autoimmune bullous diseases. OBJECTIVE: We retrospectively evaluated the effectiveness and side effects of rituximab-intravenous immunoglobulin (IVIg) combination treatment in five patients with EBA resistant to conventional treatment. PATIENTS AND METHODS: Rituximab (375 mg/m2) was administered for four consecutive weeks to four patients, and their treatment continued with IVIg at a dose of 2 g/kg/month. One patient received two cycles of rituximab for three consecutive weeks, IVIg in the fourth week, followed by monthly IVIg administrations as in the other patients. RESULTS: The total number of IVIg therapy cycles ranged from 10 to 26 (mean 19.4). Mean skin involvement, mucosal involvement, and disease severity scores decreased after a mean follow-up of 22.6 months (range, 10-28 months). In an analysis performed during months 24-28, the number of CD19-positive B cells was found to be below the normal reference range in four patients. LIMITATIONS: This was a retrospective study with a limited number of patients. CONCLUSION: Rituximab-IVIg combination treatment seems to be effective and safe for treating patients with EBA resistant to conventional treatments.

Narrowband ultraviolet B phototherapy starting and incremental dose in patients with psoriasis: comparison of percentage dose and fixed dose protocols.

BACKGROUND/PURPOSE: It was aimed to investigate the ideal narrowband ultraviolet B (NB UVB) phototherapy protocol that has the maximal efficacy, minimal side effect profile, minimal cumulative UVB dose, and a shorter duration of therapy. METHODS: Fifty-one patients with psoriasis vulgaris were included in the study. The patients were divided into the percentage dose (group 1) and the fixed dose groups (group 2). In group 1, the initial NB UVB dose was 50% of the minimal erythema dose and 20% of the previous dose increase made in the next sessions, and in group 2, the starting dose and the dose increases were determined based on the skin types and applied with fixed doses. RESULTS: Psoriasis Area and Severity Index (PASI) 90 was achieved in 22 out of 27 (81.5%) patients in group 1, and in 19 out of 24 (79.2%) patients in group 2. The difference was not statistically significant (P = 0.82). No statistically significant difference was found between the two regimens in the cumulative NB UVB dose, side effect profile, and the number of sessions with improvement of the initial PASI score by 90% (for all data, P > 0.05). CONCLUSION: These two treatment protocols were not superior to each other in terms of cumulative NB UVB dose, efficacy, total number of treatment sessions, and side effect profiles.

Infantile lepromatous leprosy with vulvar localization.

Reports of leprosy during the first year of life are uncommon. In the early diagnosis, the spectrum for most of the children is reported to be largely confined to tuberculoid (TT), borderline tuberculoid (BT), mid-borderline (BB), and indeterminate forms of leprosy. We report a one-year-old female infant presenting numerous erythematous papules on her labium majus and pale flat macules on her chin and right cheek for about four months. A biopsy revealed changes typical for lepromatous leprosy (LL). Infantile leprosy and the route of transmission are discussed here.

Crohn's disease of the vulva in a 10-year-old girl.

Crohn's disease may involve all parts of the gastrointestinal tract and may often involve other organs as well. These non-intestinal affections are termed extraintestinal manifestations. Vulval involvement is an uncommon extraintestinal manifestation of Crohn's disease, and it is very rare in children. Patients with vulval CD typically present with erythema and edema of the labia majora, which progresses to extensive ulcer formation. Vulval Crohn's disease can appear before or after intestinal problems or it may occur simultaneously. We present a 10-year-old girl with intestinal Crohn's disease complicated with perianal skin tags and asymptomatic unilateral labial hypertrophy. The course of her lesion was independent of the intestinal disease and responded significantly to medical treatment including azathioprine and topical steroid. We emphasize that although vulval involvement in childhood is uncommon, Crohn's disease must be considered in the differential diagnosis of nontender, red, edematous lesions of the genital area.