Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.

Terminal osseous dysplasia is a rare, X-linked syndrome, presumptively embryonic lethal in males, which has recently been described with highly characteristic skin findings. The presence of intracytoplasmic inclusion bodies in fibroblasts has been considered an exclusive finding of infantile digital fibromatosis. This is the first report documenting digital fibromas with intracytoplasmic inclusion bodies in a classic case of terminal osseous dysplasia.

Hansen's disease: a vanishing disease?

The introduction, implementation, successes and failures of multidrug therapy (MDT) in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants) to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered.

Milia with calcium deposits on the palms and soles in a patient with multiple syringoma.

An 8-year-old girl was referred for evaluation of multiple lesions on the neck, axillae, and genitalia. A great number of milia-like lesions were also noticed on the palms and discrete keratotic plugs on the soles. Histopathology from lesions on the neck, axilla, and vulva were consistent with syringoma. On the palms and soles, eccrine ducts cystically dilated filled with proteinaceous material and calcifications were found. Although the nature of palmar and plantar lesions in our patient is uncertain, we think that they should be related to the other syringomas on her skin.

Humanistic and Economic Impact of Moderate to Severe Plaque Psoriasis in Brazil.

INTRODUCTION: Psoriasis is an immune-mediated, chronic, inflammatory disease, which has a substantial humanistic and economic burden. This study aimed to assess the impact of this disease on health-related quality of life (HRQoL), work productivity, and direct and indirect costs from a societal perspective among Brazilian patients. METHODS: This is a cross-sectional, observational, multicenter study, enrolling patients with moderate to severe plaque psoriasis according to physician evaluation. Data collection was performed from December 2015 to November 2016 through face-to-face interviews using a structured questionnaire and five standardized patient-reported outcomes instruments. Direct costs were estimated by multiplying the amount of resources used (12-month recall period) by the corresponding unit cost. Indirect costs were grouped in two time horizons: annual costs (income reduction and absenteeism) and lifetime costs (demission and early retirement). RESULTS: A total of 188 patients with moderate to severe plaque psoriasis were included, with mean age of 48.0 (SD 13.1). "Anxiety and depression" and "pain and discomfort" were the most impaired dimensions, according to the EuroQol Five-Dimension-Three-Level (EQ-5D-3L). The highest effect was found for "symptoms and feelings" [mean (SD) 2.4 (1.7)] Dermatology Life Quality Index (DLQI) subscale. Psoriatic arthritis (PsA) presence and biologic-naïve status were associated with worse HRQoL. Presenteeism was more frequent than absenteeism, according to the Work Productivity and Activity Impairment questionnaire-General Health (WPAI-GH) [17.4% vs. 6.3%], while physical demands and time management were the most affected Work Limitations Questionnaire (WLQ) subscales [means (SD) 23.5 (28.5) and 17.7 (24.9), respectively]. The estimated annual cost per patient was USD 4034. Direct medical costs accounted for 87.7% of this estimate, direct non-medical costs for 2.4%, and indirect costs for 9.9%. CONCLUSIONS: Results evidenced that moderate to severe plaque psoriasis imposes substantial costs to society. Our data showed that this disease negatively affects both work productivity and HRQoL of Brazilian patients. Subgroups with PsA and biologic-naïve patients presented lower HRQoL, showing the impact of this comorbidity and the relevance of biologics in psoriasis treatment. FUNDING: Novartis Biociências S.A.

Consensus on the diagnostic and therapeutic management of chronic spontaneous urticaria in adults - Brazilian Society of Dermatology.

BACKGROUND: Urticarias are frequent diseases, with 15% to 20% of the population presenting at least one acute episode in their lifetime. Urticaria are classified in acute ( ≤ 6 weeks) or chronic (> 6 weeks). They may be induced or spontaneous. OBJECTIVES: To verify the diagnostic and therapeutic recommendations in chronic spontaneous urticaria (CSU), according to the experience of Brazilian experts, regarding the available guidelines (international and US). METHODS: A questionnaire was sent to Brazilian experts, with questions concerning diagnostic and therapeutic recommendations for CSU in adults. RESULTS: Sixteen Brazilian experts answered the questionnaire related to diagnosis and therapy of CSU in adults and data were analyzed. Final text was written, considering the available guidelines (International and US), adapted to the medical practices in Brazil. Diagnostic work up in CSU is rarely necessary. Biopsy of skin lesion and histopathology may be indicated to rule out other diseases, such as, urticarial vasculitis. Other laboratory tests, such as complete blood count, CRP, ESR and thyroid screening. Treatment of CSU includes second-generation anti-histamines (sgAH) at licensed doses, sgAH two, three to fourfold doses (non-licensed) and omalizumab. Other drugs, such as, cyclosporine, immunomodulatory drugs and immunosuppressants may be indicated (non-licensed and with limited scientific evidence). CONCLUSIONS: Most of the Brazilian experts in this study partially agreed with the diagnostic and therapeutic recommendations of the International and US guidelines. They agreed with the use of sgAH at licensed doses. Increase in the dose to fourfold of sgAH may be suggested with restrictions, due to its non-licensed dose. Sedating anti-histamines, as suggested by the US guideline, are indicated by some of the Brazilian experts, due to its availability. Adaptations are mandatory in the treatment of CSU, due to scarce or lack of other therapeutic resources in the public health system in Brazil, such as omalizumab or cyclosporine.

Consensus on the therapeutic management of atopic dermatitis - Brazilian Society of Dermatology.

BACKGROUND: Atopic dermatitis is a highly prevalent inflammatory and pruritic dermatosis with a multifactorial etiology, which includes skin barrier defects, immune dysfunction, and microbiome alterations. Atopic dermatitis is mediated by genetic, environmental, and psychological factors and requires therapeutic management that covers all the aspects of its complex pathogenesis. OBJECTIVES: The aim of this article is to present the experience, opinions, and recommendations of Brazilian dermatology experts regarding the therapeutic management of atopic dermatitis. METHODS: Eighteen experts from 10 university hospitals with experience in atopic dermatitis were appointed by the Brazilian Society of Dermatology to organize a consensus on the therapeutic management of atopic dermatitis. The 18 experts answered an online questionnaire with 14 questions related to the treatment of atopic dermatitis. Afterwards, they analyzed the recent international guidelines on atopic dermatitis of the American Academy of Dermatology, published in 2014, and of the European Academy of Dermatology and Venereology, published in 2018. Consensus was defined as approval by at least 70% of the panel. RESULTS/CONCLUSION: The experts stated that the therapeutic management of atopic dermatitis is based on skin hydration, topical anti-inflammatory agents, avoidance of triggering factors, and educational programs. Systemic therapy, based on immunosuppressive agents, is only indicated for severe refractory disease and after failure of topical therapy. Early detection and treatment of secondary bacterial and viral infections is mandatory, and hospitalization may be needed to control atopic dermatitis flares. Novel target-oriented drugs such as immunobiologicals are invaluable therapeutic agents for atopic dermatitis.

Gnathostomiasis: an emerging infectious disease relevant to all dermatologists.

Gnathostomiasis is a parasitic infection caused by the third larval stage of nematodes of the genus Gnathostoma. The disease is endemic in some countries around the world. In the American continent, the majority of cases is concentrated in Mexico, Ecuador, and Peru. However, due to increasing traveling either at the intercontinental or intracontinental level, the disease is seen each time more frequently in tourists. Furthermore, countries, such as Brazil, that have never been considered endemic are reporting autochthonous cases. The disease usually presents as a deep-seated or slightly superficial migratory nodule in patients with history of eating raw fish, in the form of ceviche, sushi, or sashimi. Along with the clinical presentation, diagnostic criteria include either blood or tissue eosinophilia. In most instances, these criteria are enough for the attending physician to institute therapy. Chances of finding the parasite are low, unless the biopsy is taken from a very specific area that develops after antiparasitic treatment is started. The potential of other organ involvement with more serious consequences should always be kept in mind.

PHACE syndrome: clinical manifestations, diagnostic criteria, and management.

Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Assessment of psoriasis severity in Brazilian patients with chronic plaque psoriasis attending outpatient clinics: a multicenter, population-based cross-sectional study (APPISOT).

PURPOSE: Data on chronic plaque psoriasis severity and its potential clinical and lifestyle implications in the Brazilian population are limited. The primary aim of this study was to assess the clinical severity of plaque psoriasis in Brazil. Further objectives included evaluating potential associations between disease severity and demographic, lifestyle, and clinical characteristics, health-related quality of life (HRQOL), and work productivity. MATERIALS AND METHODS: This observational (non-interventional) cross-sectional study was conducted in 26 dermatologic clinics across 11 Brazilian states. Psoriasis severity was assessed using investigator judgment and Finlay's Rule of Tens: a Psoriasis Area and Severity Index (PASI) score >10, a Body Surface Area (BSA) > 10%, or a Dermatology Life Quality Index (DLQI) score >10. RESULTS: Among 1125 patients, 205 (18.2%) had moderate-to-severe disease. On multiple regression analyses, psoriasis severity was significantly (directly) associated with the presence of physical inactivity and comorbid pain, anxiety, and depression; and significantly (inversely) associated with HRQOL and work productivity. LIMITATIONS: Cross-sectional studies cannot assess temporal trends, and observational studies cannot conclusively determine causality or exclude biases and confounding due to unmeasured variables. CONCLUSIONS: Among Brazilian patients with moderate-to-severe psoriasis, disease severity had far-reaching adverse impacts on lifestyle, comorbidities, HRQOL, and work productivity.

A prospective study of patients with large congenital melanocytic nevi and the risk of melanoma.

BACKGROUND:: Large congenital melanocytic nevus (LCMN) is considered a risk factor for melanoma, although the magnitude of this risk is controversial. OBJECTIVE:: To evaluate the risk of melanoma development in patients with LCMN seen at a dermatology referral center in Brazil during a twelve-year period. To the best of our knowledge, there are no published similar studies on large congenital melanocytic nevus in South America. METHODS:: Our prospective cohort included only patients with congenital nevi ≥20cm. The cumulative risk of developing melanoma and the standardized morbidity ratio were calculated for patients followed up prospectively for at least 1 month. RESULTS:: Sixty-three patients were enrolled in this study. One patient who developed melanoma prior to enrollment was excluded, and five were eliminated because of insufficient follow-up time. Mean follow-up for the remaining 57 patients was 5.5 years (median 5.2 years). Median age of entry into the study was 2.6 years. Most patients (75.4%) underwent only clinical observation. Melanomas occurred in 2 (3.5%) patients. Five-year cumulative risk for melanoma was 4.8% (95% CI: 1.9-11.5%). Standardized morbidity ratio was 1584 (95% CI: 266-5232, p<0.001). STUDY LIMITATIONS:: The small sample size reduces the accuracy of risk estimates. CONCLUSIONS:: This study analyzed prospectively for the first time data from South America demonstrating that patients with LCMN have a higher risk of developing melanoma than the general population (p<0.001).

Primary health care as assessed by health professionals: comparison of the traditional model versus the Family Health Strategy.

INTRODUCTION: The Family Health Strategy (FHS) should be first-contact care in the Brazilian Health System. However, Primary Health Care (PHC) still encompasses two models: the FHS and the traditional health care facilities. The expansion of the FHS has been slow and heterogeneous in many cities, rendering a comparative evaluation of key quality-related elements of PHC models crucial. OBJECTIVE: To compare the performance of PHC models as perceived by health professionals. METHODS: A cross-sectional study involving managers and health professionals from PHC of a medium-size city in South-eastern Brazil. Data were collected by applying the Primary Care Assessment Tool. The performance was estimated through primary health care indexes (general and partial PHCI by attributes). Univariate polytomous logistic regression was performed to compare care model performances according to their attributes. Strength of association was estimated by odds ratio with 95% confidence interval. RESULTS: Three managers and 81 health professionals participated in the study. The FHS had a better index rating than the traditional care model for general PHCI and for the attributes longitudinality, comprehensiveness, family focus and professional level. CONCLUSION: Although the FHS attained higher scores compared to the traditional model, it has not yet achieved the performance expected. This scenario points to the need for increased FHS cover and quality improvements at the existing units.

What is your diagnosis?

CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

Efficacy and safety of a single dose pentamidine (7mg/kg) for patients with cutaneous leishmaniasis caused by L. guyanensis: a pilot study.

BACKGROUND: There have been few studies on pentamidine in the Americas; and there is no consensus regarding the dose that should be applied. OBJECTIVES: To evaluate the use of pentamidine in a single dose to treat cutaneous leishmaniasis. METHODS: Clinical trial of phase II pilot study with 20 patients. Pentamidine was used at a dose of 7 mg/kg, in a single dose. Safety and adverse effects were also assessed. Patients were reviewed one, two, and six months after the end of treatments. RESULTS: there was no difference between the treatment groups in relation to gender, age, number or location of the lesions. Pentamidine, applied in a single dose, obtained an effectiveness of 55%. Mild adverse events were reported by 17 (85%) patients, mainly transient pain at the site of applications (85%), while nausea (5%), malaise (5%) and dizziness (5%) were reported in one patient. No patient had sterile abscess after taking medication at a single dose of 7mg/kg. CONCLUSIONS: Clinical studies with larger samples of patients would enable a better clinical response of pent amidine at a single dose of 7mg, allowing the application of more powerful statistical tests, thus providing more evidences of the decrease in the effectiveness of that medication. Hence, it is important to have larger studies with new diagrams and/or new medications.

Epidermolysis bullosa acquisita in childhood.

Epidermolysis bullosa acquisita (EBA) is a subepidermal autoimmune blistering disease that is rarely reported in childhood. We describe a nine-month-old mulatto boy presenting with multiple, annular, widespread, tense blisters and oral lesions. The diagnosis of EBA was confirmed by histopathology, immunofluorescence, and immunoblotting analysis. The patient was successfully treated with systemic steroids (prednisone) and dapsone. After 20 months of initial treatment, clinical remission was observed, and dapsone remains as the current treatment. This case report emphasizes the rarity of EBA in childhood and the difficulties in reaching the final diagnosis.

[American cutaneous leishmaniasis]. / Leishmaniose tegumentar americana.

American cutaneous leishmaniasis is endemic in widespread areas of Latin America. The causative agents include L. (V.) braziliensis, L. (L.) mexicana, L. (V.) panamensis, and related species. The spectrum of disease includes single, localized, cutaneous ulcers, diffuse cutaneous leishmaniasis, and mucosal disease. The main reservoirs for L. (V.) braziliensis and other Leishmania (Vianna) spp. are small forest rodents. The vectors are ground-dwelling or arboreal Lutzomyia sandflies, which are abundant in the forest. Disease is most common in persons working at the edge of the forest and among rural settlers. The incubation period of cutaneous leishmaniasis varies from two weeks to several months. A wide variety of skin manifestations ranging from small, dry, crusted lesions to large, deep, mutilating ulcers may be seen. Ulcerative lesions are usually shallow and circular with well-defined, raised borders and a bed of granulation tissue. In L. (V.) braziliensis infection, regional lymphadenopathy often precedes the development of cutaneous lesions by one to 12 weeks. A definite diagnosis depends on the identification of amastigotes in tissue or promastigotes in culture. Antileishmanial antibodies are present in the serum of some patients with cutaneous leishmaniasis as detected by ELISA, immunofluorescent assays, direct agglutination tests or other assays, but the titers are usually low. The leishmanin skin test result usually becomes positive during the course of the disease. For treatment two pentavalent antimony-containing drugs are used: stibogluconate sodium, and meglumine antimoniate (Glucantime). Amphotericin B deoxycholate is an alternative for persons who fail to respond to pentavalent antimony. Immunoprophylaxis and immunotherapy are promising new approaches to prevention and treatment.

Complications of infantile hemangiomas.

Most infantile hemangiomas have a spontaneous and uneventful involution and, hence, may be treated expectantly. Others, however, will present some complication along their evolution that may require prompt therapeutic interventions. Ulceration is the most common complication, and amblyopia is frequently associated with periocular tumors. Airways hemangiomas may be life-threatening, and disfigurement can heavily impact the patient's quality of life.

Comorbidities and cardiovascular risk factors in patients with psoriasis.

BACKGROUND: Psoriasis is a chronic inflammatory disease and its pathogenesis involves an interaction between genetic, environmental, and immunological factors. Recent studies have suggested that the chronic inflammatory nature of psoriasis may predispose to an association with other inflammatory diseases, especially cardiovascular diseases and metabolic disorders. OBJECTIVES: To describe the demographic, clinical, epidemiological, and laboratory characteristics of a sample of psoriasis patients; to assess the prevalence of cardiovascular comorbidities in this group of patients; and to identify the cardiovascular risk profile using the Framingham risk score. METHODS: We conducted a cross-sectional study involving the assessment of 190 patients. Participants underwent history and physical examination. They also completed a specific questionnaire about epidemiological data, past medical history, and comorbidities. The cardiovascular risk profile was calculated using the Framingham risk score. RESULTS: Patients' mean age was 51.5 ± 14 years, and the predominant clinical presentation was plaque psoriasis (78.4%). We found an increased prevalence of systemic hypertension, type 2 diabetes, metabolic syndrome, and obesity. Increased waist circumference was also found in addition to a considerable prevalence of depression, smoking, and regular alcohol intake. Patients' cardiovascular risk was high according to the Framingham risk score, and 47.2% of patients had moderate or high risk of fatal and non-fatal coronary events in 10 years. CONCLUSIONS: Patients had high prevalence of cardiovascular comorbidities, and high cardiovascular risk according to the Framingham risk score. Further epidemiological studies are needed in Brazil for validation of our results.