Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries. METHODS: We performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil. RESULTS: Approximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%. CONCLUSIONS: Patients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low- and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.

Applicability of the Geographic Tongue Area and Severity Index among Healthcare Professionals: A Cross-Sectional Clinical Validation of a Newly Developed Geographic Tongue Scoring System.

Geographic tongue (GT) is a chronic condition of unknown aetiology, with no defined parameters to establish the protocol for evidence-based management. Validation of a newly developed and proposed clinical index to assess the severity of GT could assist in its diagnosis, especially in cases associated with systemic dermatological diseases in the form of psoriasis. OBJECTIVE: To verify the applicability of the geographic tongue area and severity index (GTASI). This involved healthcare professionals from different specialties to evaluate the usefulness of the GTASI in supporting GT classification, as well as the follow-up process. METHODS: One hundred cases of previously diagnosed GT were initially evaluated by three independent, experienced researchers/clinicians to obtain a standardised classification baseline. Subsequently, nine cases of GT were selected, three cases for each category-mild, moderate and severe. These stages were professionally evaluated by 51 healthcare professionals from three groups: 17 dentists (33%), 22 oral medicine specialists (43%) and 12 specialist dermatologists (24%) during a cross-sectional survey. RESULTS: The quantitative and qualitative assessment based on experts' opinions in the cross-sectional survey demonstrated an acceptable, similar level of GT clinical diagnosis (p > 0.05), with coherence between the various groups of professionals critically appraising the GTASI. An apparent divergence was observed for the moderate GT category, as well as in the group of less experienced evaluators. CONCLUSION: Whilst the validation of GTASI applicability was successfully executed, the general dental practitioners, specialists in oral medicine and dermatologists were equally capable of correct GT diagnosis and appropriately rating its severity. These coherent results were especially replicated among the experienced clinicians. The validation of the newly proposed index confirmed its reliability as a feasible instrument in oral medicine, with the prospect of its wider implementation in clinical practice.

Cutaneous Horn of the Glans.

Cutaneous horn is a protuberance constituted by compact keratinous material, with a hard consistence similar to a horn, which occurs more frequently in photoexposed areas. The authors describe a case of cutaneous horn on the glans considered a rare location. Verrucous carcinoma was the histopathological diagnosis of the base of the horn and lichen sclerosis, the precursor lesion.

Geographic tongue severity index: A new and clinical scoring system.

OBJECTIVE: This study was designed to develop a severity index for geographic tongue (GT) based on the Psoriasis Area and Severity Index. STUDY DESIGN: This cross-sectional observational study, with a retrospective sample of 100 participants, included 5 photographs of each case (dorsum, right border, left border, apex, and lingual belly), totaling 500 images of GT, which were evaluated by 3 experienced researchers in the area of GT and psoriasis. At the end of the analysis, GT was classified as mild, moderate, or severe. RESULTS: Of the 100 patients, white women were most prevalent, accounting for 53% of cases. Of these participants, 34% had psoriasis and 24% reported a burning sensation. The values of the proposed new index obtained at time 1 (0.855) and time 2 (0.819) presented low variability, and intra- and interrater correlations produced satisfactory values ranging from 0.950 to 0.898 and 0.898 to 0.850, respectively. CONCLUSION: The new index, Geographic Tongue Area and Severity Index, provides a better characterization of GT by assessing the severity of lesions in an easy and reliable manner, and it is indicated as a first step for interpreting the condition in clinical routines and clinical trials.

Criocirurgia como tratamento adjuvante na esporotricose: relato de três casos / Cryosurgery as an adjuvant treatment in sporotrichosis: a three-case report

A esporotricose é doença causada pelo fungo dimorfo Sporothrix spp., e o número de casos vem aumentando, principalmente na cidade do Rio de Janeiro, onde hoje é considerada um problema de saúde pública. O tratamento recomendado é com antifúngicos, mas em caso de persistência das lesões ou quando houver contraindicação, a criocirurgia é opção, pois o fungo é sensível a temperaturas extremas. São relatados três casos de esporotricose tratados com itraconazol e/ou iodeto de potássio durante mais de seis meses com resposta incompleta, nos quais a criocirurgia foi usada com sucesso como tratamento adjuvante.

Sporotrichosis is a disease caused by the dimorphic fungus Sporothrix spp. The number of cases has been increasing, notedly in the city of Rio de Janeiro, Brazil, where it is now considered a public health problem. The recommended treatment employs antifungals, however in case of persistence of the lesions or when there is contraindication, cryosurgery is an option, since the fungus is sensitive to extreme temperatures. The authors report 3 cases of sporotrichosis treated for longer than 6 months with itraconazole and/or potassium iodide, all yielding incomplete response and where cryosurgery was successfully used as an adjuvant treatment.

Tratamento da acne vulgar moderada a grave com isotretinoína oral similar ao produto referência / Treatment of moderate to severe acne vulgaris with an oral isotretinoin similar to the reference product

Introdução: Acne vulgar é doença inflamatória crônica dos folículos pilossebáceos. O tratamento deve ser precoce e efetivo para evitar cicatrizes e repercussões psicossociais, sendo a isotretinoína droga de escolha para casos moderados ou graves. Objetivos: Avaliar eficácia, segurança e tolerabilidade de uma isotretinoína similar ao produto referência. Métodos: Estudo bicêntrico, de intervenção terapêutica, incluindo 50 participantes, de 13 a 35 anos de idade, com acne moderada ou grave, usando isotretinoína 0,5mg/kg/dia, até 120mg/kg. A eficácia foi avaliada por meio da contagem de lesões, escala de avaliação global do investigador (IGA), satisfação do paciente e aplicação do questionário de qualidade de vida específico para acne (Acne Qol). Segurança e tolerabilidade foram avaliadas pela análise de eventos adversos e por exames laboratoriais. Resultados: A idade média foi 20 anos, sendo 70% homens, com redução de 99% das lesões ao final do tratamento e remissão total das lesões em 91,5% dos participantes. A escala IGA reduziu 98% no escore ao final do tratamento. Todos os pacientes se declararam satisfeitos, com significativa melhora na qualidade de vida. Os eventos adversos foram semelhantes aos descritos na literatura. Conclusões: A isotretinoína avaliada mostrou-se igualmente eficaz, segura e bem tolerada quando comparada aos dados publicados referentes ao produto-padrão.

Introduction: Acne vulgaris is a chronic inflammatory disease of the pilosebaceous follicles. Treatment should be early and effective to prevent scarring and psychosocial effects, and isotretinoin is the drug of choice for moderate or severe cases. Objective: To assess efficacy, safety and tolerability of an isotretinoin similar to the reference product. Methods: A bicentric study, with therapeutic intervention was conducted, including 50 participants aged 13 to 35 years, with moderate to severe acne, using isotretinoin 0.5 mg/kg/day up to 120 mg/kg. Efficacy was assessed through lesions counting, the investigator's global assessment (IGA) scale, patient satisfaction and application of the quality of life questionnaire specific for Acne (Acne Qol). Safety and tolerability were assessed by analysis of adverse events and laboratory tests. Results: Mean age was 20 years, 70% of participants were men, with a reduction of 99% of lesions after treatment and complete remission of lesions in 91.5% of participants. IGA scale reduced 98% in the score after treatment. Also, 100% of participants declared to be satisfied, with significant improvement in quality of life. Adverse events were similar to those described in the literature. Conclusion: The assessed isotretinoin was equally effective, safe and well-tolerated when compared with published data of the standard product.

Oral isotretinoin in photoaging: objective histological evidence of efficacy and durability.

BACKGROUND: The off-label use of oral isotretinoin in photoaging is a therapeutic tool that has been used by dermatologists. There are few studies to corroborate its effectiveness and durability. OBJECTIVES: To assess, both clinically and histologically, the changes caused by the use of oral isotretinoin in skin photoaging as well as the duration of the effects. METHODS: 20 female patients, aged 45-50 years, with phototypes II-VI, none of whom had experienced menopause, were treated with 20mg oral isotretinoin, 3 days a week, for 12 weeks. They underwent clinical analysis and skin biopsies in the pre-auricular region, while histologic cuts enabled assessment of the solar elastosis level and morphologic analysis. RESULTS: Clinically, patients, as well as the researching and the assessor physicians, noticed improvement in skin quality. One patient presented severe solar elastosis, 11 manifested the moderate form, while 8 presented the discreet type. According to histological analysis, 65% of the patients revealed alteration in the distribution and thickness of the elastic fibers, which can be interpreted as a histological improvement, while 60% showed an increase in collagen density. We observed an increase in collagen density, from 51.2% to 57.4%, (p=0.004). At the end of the 12-week follow-up period, this density decreased to 54.7% (p=0.050). There was an increase in the density of elastic fibers, from 26.5% to 31.3%, (p=0.02), which had dropped to 27.5% at the end of the 12-week follow-up period. CONCLUSIONS: The study confirmed the role of oral isotretinoin in remodeling the extracellular matrix against photoaging, as well as its durability after 12 weeks, especially when we consider collagen fibers.

Anti-TNF-α and hydralazine drug-induced lupus.

Drug-induced lupus is a rare drug reaction featuring the same symptoms as idiopathic lupus erythematosus. Recently, with the introduction of new medicines in clinical practice, an increase in the number of illness-triggering implicated drugs has been reported, with special emphasis on anti-TNF-α drugs. In the up-to-date list, almost one hundred medications have been associated with the occurrence of drug-induced lupus. The authors present two case reports of the illness induced respectively by hydralazine and infliximab, addressing the clinical and laboratorial characteristics, diagnosis, and treatment.

Oral isotretinoin in photoaging: objective histological evidence of efficacy and durability

AbstractBACKGROUND:The off-label use of oral isotretinoin in photoaging is a therapeutic tool that has been used by dermatologists. There are few studies to corroborate its effectiveness and durability.OBJECTIVES:To assess, both clinically and histologically, the changes caused by the use of oral isotretinoin in skin photoaging as well as the duration of the effects.METHODS:20 female patients, aged 45-50 years, with phototypes II-VI, none of whom had experienced menopause, were treated with 20mg oral isotretinoin, 3 days a week, for 12 weeks. They underwent clinical analysis and skin biopsies in the pre-auricular region, while histologic cuts enabled assessment of the solar elastosis level and morphologic analysis.RESULTS:Clinically, patients, as well as the researching and the assessor physicians, noticed improvement in skin quality. One patient presented severe solar elastosis, 11 manifested the moderate form, while 8 presented the discreet type. According to histological analysis, 65% of the patients revealed alteration in the distribution and thickness of the elastic fibers, which can be interpreted as a histological improvement, while 60% showed an increase in collagen density. We observed an increase in collagen density, from 51.2% to 57.4%, (p=0.004). At the end of the 12-week follow-up period, this density decreased to 54.7% (p=0.050). There was an increase in the density of elastic fibers, from 26.5% to 31.3%, (p=0.02), which had dropped to 27.5% at the end of the 12-week follow-up period.CONCLUSIONS:The study confirmed the role of oral isotretinoin in remodeling the extracellular matrix against photoaging, as well as its durability after 12 weeks, especially when we consider collagen fibers.

Granulomatous reaction to red tattoo pigment treated with allopurinol.

Granulomatous reactions to tattoo ink are most commonly associated with mercury sulfide, a component of red pigments. Treatment options show limited results. Allopurinol, an inhibitor of xanthine oxidase, has been reported as a successful alternative treatment to granulomatous disorders, such as sarcoidosis and granulomatous reactions to fillers and tattoos. We report a case of granulomatous reaction to red tattoo pigment treated with allopurinol for 6 months. Good clinical improvement could be noticed during this time. Two months after we stopped the treatment, the lesion recurred. Allopurinol emerges as an important drug for the management of granulomatous reactions caused by tattoo pigments. Based on the significant clinical improvement noticed during its use, we recommend new studies to elucidate all the potential benefits of the use of allopurinol for the treatment of granulomatous reactions to tattoo ink.

Anti-TNF-α and hydralazine drug-induced lupus

Drug-induced lupus is a rare drug reaction featuring the same symptoms as idiopathic lupus erythematosus. Recently, with the introduction of new medicines in clinical practice, an increase in the number of illness-triggering implicated drugs has been reported, with special emphasis on anti-TNF-α drugs. In the up-to-date list, almost one hundred medications have been associated with the occurrence of drug-induced lupus. The authors present two case reports of the illness induced respectively by hydralazine and infliximab, addressing the clinical and laboratorial characteristics, diagnosis, and treatment.

Bed bug dermatitis, description of two cases in Rio de Janeiro, Brazil.

Bed bugs are hematophagous insects which due to their morphological and biological characteristics are able to easily adapt themselves to human households. The authors describe two cases of dermatitis caused by bed bug bites in the city of Rio de Janeiro, Brazil. Patients presented linear lesions in the usual "breakfast, lunch and dinner" arrangement, suggesting this diagnosis. A visit to their dwellings showed infestation of insects identified as Cimex hemipterus. The knowledge of these insects by the dermatological community will contribute to an accurate diagnosis as well as subsidize the dissemination of information aiming for prevention.

Bed bug dermatitis, description of two cases in Rio de Janeiro, Brazil

Bed bugs are hematophagous insects which due to their morphological and biological characteristics are able to easily adapt themselves to human households. The authors describe two cases of dermatitis caused by bed bug bites in the city of Rio de Janeiro, Brazil. Patients presented linear lesions in the usual "breakfast, lunch and dinner" arrangement, suggesting this diagnosis. A visit to their dwellings showed infestation of insects identified as Cimex hemipterus. The knowledge of these insects by the dermatological community will contribute to an accurate diagnosis as well as subsidize the dissemination of information aiming for prevention.

Rigid swelling of sublingual caruncle area due to the salivary gland duct obstruction by a sialolith

Sialolithiasis is the presence of calculus within the ductal system of a salivary gland. Among the diagnostic methods are inspection, palpation, checking the amount of saliva secreted and the identification of a sialolith. The authors present the case of a 37-year-old female patient with edema of the submandibular area and a bulging sublingual caruncle due to a calculus that obstructed the salivary gland ostium.