RESUMO A foliculite decalvante e o líquen plano pilar têm sido consideradas duas alopecias cicatriciais distintas. No entanto, a apresentação bifásica da foliculite decalvante - líquen plano pilar num mesmo paciente foi recentemente descrita, levantando a dúvida se são duas entidades distintas ou um espectro fenotípico contínuo. Descrevemos o caso de um homem que apresentou características clínicas, tricoscópicas e histopatológicas de ambas as entidades. Discutimos as teorias atuais sobre a patogénese das duas doenças e a sua coexistência no mesmo paciente. O reconhecimento de casos similares permite otimizar a abordagem e o tratamento.

ABSTRACT Folliculitis decalvans and lichen planopilaris have been considered two distinct cicatricial alopecias. However, biphasic presentation of folliculitis decalvans - lichen planopilaris in the same patient has been recently described, therefore raising the doubt if they are two distinct entities or a continuous phenotypic spectrum. We describe the case of a man who presented clinical, trichoscopic, and histopathological features of both entities. Moreover, we discuss current theories about the pathogenesis of the two diseases and their coexistence in the same patient. The recognition of similar cases allows to optimize the approach and treatment.

RESUMO A doença de Hailey-Hailey (DHH) é uma dermatose acantolítica autossómica dominante rara. Clinicamente, caracteriza-se por episódios recorrentes de vesículas, erosões e placas eritematosas descamativas envolvendo áreas intertriginosas, com início após a puberdade, geralmente na terceira ou quarta década de vida. Em 2000, mutações no gene ATP2C1, no cromossoma 3q22.1, que codifica a proteína 1 da via secretora humana Ca2+/Mn2+-ATPase (hSPCA1), foram identificadas como a causa da DHH. Relatamos a identificação de duas novas mutações do gene ATP2C1 em duas doentes portuguesas, expandido o espectro de mutações ATP2C1 subjacentes à DHH e fornecendo informações úteis para o aconselhamento genético.

ABSTRACT Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis. It is characterized by a recurrent eruption of vesicles, erosions, and scaly erythematous plaques involving intertriginous areas and first occurring after puberty, mostly in the third or fourth decade. In 2000, mutations in the ATP2C1 gene on band 3q22.1, encoding the secretory pathway Ca2+/Mn2+-ATPase protein 1(hSPCA1), have been identified as the cause of HHD. We report the identification of two novel mutations of ATP2C1 gene in two Portuguese patients, which expands the spectrum of ATP2C1 mutations underlying HHD and provides useful information for genetic counseling.

RESUMO Introdução: Diversas patologias não infeciosas podem afetar a vulva, por vezes necessitando de realização de biopsia cutânea. O objetivo deste trabalho foi caracterizar todas as patologias vulvares não infeciosas em que foi realizada biopsia cutânea, num Hospital Central, durante um período de 10 anos. Métodos: Foi realizado um estudo retrospetivo de todas as patologias vulvares não infeciosas com confirmação histológica na nossa instituição, entre 1 de janeiro de 2008 e 31 de dezembro de 2017. Resultados: A amostra incluiu 323 biópsias de 317 doentes, entre os 11 e os 98 anos (média de idades de 54,2 anos), tendo sido identificadas 36 patologias distintas. As patologias neoplásicas foram as mais frequentes, nomeadamente as máculas pigmentadas da vulva (22,3%). A neoplasia maligna mais diagnosticada foi a neoplasia intraepitelial da vulva (6,2%) e o carcinoma espinocelular (5,6%). Já a dermatose inflamatória mais frequente foi o líquen escleroso (12,7%). Conclusão: A maior parte das biopsias envolveu patologias neoplásicas sendo a exclusão de malignidade o principal motivador da sua realização. Este estudo evidencia a grande diversidade de patologias não infeciosas que podem afetar a vulva e que são fonte de sofrimento e angústia, o que torna o seu correto diagnóstico e orientação essenciais.

ABSTRACT Introduction: The vulvar area may be affected by many noninfectious conditions with similar clinical appearance, requiring a cuta-neous biopsy. Our goal was to characterize the noninfectious vulvar diseases that required a biopsy in a southwestern Europe Central Hospital during a 10-year period. Methods: A retrospective study of all the noninfectious vulvar diseases with histological confirmation diagnosed in our institution was conducted be-tween January 1, 2008 and December 31, 2017. Results: The sample included a total of 323 biopsies from 317 patients, aged between 11 and 98 years (mean age of 54.2 years). A total of 36 vulvar diseases was identified. Neoplastic conditions were the most frequently found, particularly melanotic macules (22.3%). The most frequent malignant tumor was vulvar intraepithelial neoplasia (6.2%) and squamous cell carcinoma (5.6%). The most common dermatosis was lichen sclerosus (12.7%). Conclusion: Neoplasms were the most frequently diagnosed conditions affecting the vulvar area that required a biopsy. Ruling out malignancy was also the main reason to perform a biopsy. This study highlights the variety of noninfectious diseases that may affect the vulva and require a biopsy. Since vulvar diseases may be serious and carry high levels of patient distress a correct understanding of these conditions is crucial.

RESUMO A sífilis é uma doença de transmissão sexual com um vasto leque de manifestações clínicas, conhecida desde há séculos. Nos últimos anos, esta infeção tem ressurgido nos países desenvolvidos, especialmente no grupo de homens que têm sexo com homens (HSH). Dentro deste grupo populacional, a incidência de sífilis atinge o pico, naqueles com infeção concomitante pelo vírus da imunodeficiência humana (VIH). Nestes doentes, as manifestações de sífilis são ainda mais diversificadas e atípicas. Descrevemos um caso de sífilis secundária num doente HSH com coinfecção pelo VIH, cuja manifestação consistiu unicamente em lesões extensas de condiloma lata.

ABSTRACT Syphilis is a sexually transmitted infection with a multiplicity of clinical presentations that has been known for centuries. Recently, a new wave of syphilis has been reported in developed countries and men who have sex with men, especially those coinfected with human immu-nodeficiency virus (HIV), have the highest rates of syphilis infection. In these patients, cutaneous manifestation can be even more diverse. We report a case of secondary syphilis in a young male patient coinfected with HIV whose presentation consisted of extensive condylomata lata lesions.

RESUMO O schwannoma é um tumor benigno encapsulado da bainha nervosa composto por células de Schwann, que pode surgir em qualquer lugar ao longo do curso de um nervo. Schwannomas cutâneos, associados a nervos periféricos, apresentam-se geralmente como nódulos solitários bem delimitados de crescimento lento, localizados na derme ou tecido celular subcutâneo. Apesar de geralmente assintomáticos, estes tumores podem tornar-se dolorosos pela compressão nervosa. Os seus sinais clínicos são inespecíficos, pelo que a histologia é necessária para o diagnóstico definitivo. Apresentamos um caso de schwannoma cutâneo antigo solitário do pavilhão auricular, uma variante histopatológica de schwannoma com características morfológicas distintivas.

ABSTRACT Schwannoma is a benign encapsulated nerve sheath tumor composed of Schwann cells, that may arise anywhere along the course of a nerve. Cutaneous schwannomas, associated with peripheral nerves, usually present as a slow-growing well-circumscribed nodule, localized in the dermis or subcutaneous tissue. They are generally asymptomatic; however, they may become painful by the nervous compression. Since the clinical signs are non-specific, histology is required for a definitive diagnosis. Herein, we present a case of a solitary cutaneous ancient schwannoma of the ear, a histopathological variant of schwannoma with distinctive morphological characteristics.

Abstract Background: Cutaneous leiomyosarcoma is a rare malignant neoplasm with muscular origin, representing 2%-3% of all cutaneous soft tissue sarcomas. Objectives: The aim of this study was to characterize clinicopathological features of patients diagnosed with cutaneous leiomyosarcoma in our center over the last 20-years. Methods: A retrospective study of patients with a histopathological diagnosis of leiomyosarcoma between 1999 and 2018 was conducted. Results: Eleven patients were diagnosed with cutaneous leiomyosarcoma during this period. Most cases occurred in men (n = 7). Age at presentation ranged from 47 to 92 years (mean 64.9 years). Head and neck were the most frequently involved locations (n = 5). Ten leiomyosarcoma were dermal, with one cutaneous metastasis. Immunohistochemical staining was available for 7 patients, demonstrating positivity for smooth muscle actin in all of them. All neoplasms were treated surgically. Mean survival was 32.2-months. Study limitations: This was a retrospective study based on medical and pathological records. Conclusions: Histopathology is essential for the diagnosis of leiomyosarcoma, usually revealing a dermal or subcutaneous lesion composed of intertwined fascicles of smooth muscle fibers. Immunohistochemistry is then used to adequately differentiate leiomyosarcoma from other spindle cell tumors. When dealing with cutaneous leiomyosarcoma, it is advisable to carefully evaluate the depth of subcutaneous extension, since even minimal subcutaneous involvement may be associated with a poorer prognosis.

Resumo Objetivos: Caracterizar epidemiologicamente a patologia Líquen Plano e sua abordagem terapêutica. Métodos: Neste estudo retrospetivo, foram incluídos 174 pacientes, de um hospital público português, com diagnóstico de Líquen Plano entre os anos 2008 e 2017. Os registos médicos permitiram a recolha de informação relativa a género, idade, distribuição topográfica das lesões de Líquen Plano, terapêutica prescrita (princípio ativo, via de administração e esquema terapêutico), duração média da doença, episódios de cura e recidiva. A análise estatística foi realizada com recurso ao software IBM® SPSS® Statistics, versão 25. Resultados: Nesta população, a doença afetou ambos os géneros com a mesma probabilidade (p=0,820), no entanto, com maior prevalência na 4.ª e 5.ª décadas de idade. As lesões de Líquen Plano manifestaram-se na pele (em 75,9% dos doentes), nas mucosas (5,2%), ou em ambos (19,0%). Os fármacos mais prescritos foram os corticosteróides, seguidos dos anti-histamínicos e dos imunossupressores. Os corticosteróides tópicos foram os mais comummente administrados, nomeadamente o Propionato de Clobetasol (37,4%). Dentro dos corticosteróides sistémicos, a Prednisolona foi o fármaco mais utilizado (12,3%). A duração média das lesões e sintomas foi de aproximadamente 6,5 meses. Para a população que recidivou (12%), o período médio de remissão dos sintomas foi de 513 dias. Conclusões: Os parâmetros epidemiológicos desta amostra de pacientes portugueses com Líquen Plano partilham semelhanças com outras populações descritas. Nenhuma terapêutica baseada em evidência provou ser eficaz para o tratamento do Líquen Plano. No entanto, os corticosteróides tópicos continuam a apresentar-se como a solução terapêutica de primeira linha para esta patologia.

Abstract Objectives: To study the epidemiological distribution of the disease lichen planus and its therapeutic management. Methods: A total of 174 patients with a lichen planus diagnosis between 2008 and 2017 at a Portuguese public hospital were included in this retrospective study. The following data were collected from clinical records: gender, age, topographic distribution of lesions, prescribed therapy (active substance, route, and scheme of administration), mean duration of illness, and episodes of cure and relapse. Statistical analysis was performed using IBMR SPSSR Statistics software, version 25. Results: In this population, lichen planus affected both genders with the same probability (p=0.820), and was more prevalent in the 4th-5th decades of age. The lesions appeared in the skin (75.9% of the patients), mucous membranes (5.2%), or both (19.0%). The most prescribed drugs were corticosteroids, followed by antihistamines and immunosuppressants. Topical corticosteroids were the most common ones, namely clobetasol propionate (37.4%). Within the systemic corticosteroids, prednisolone was the most prescribed drug (12.3%). The average duration of lesions and symptoms was approximately 6.5 months. For the relapsing population (12%), the mean period of symptoms’ remission was 513 days. Conclusions: The epidemiological parameters of lichen planus in these Portuguese patients bear similarities with other described populations. No evidence-based therapeutic has proven to be effective for lichen planus treatment, but topical corticosteroids continue to be the firstline therapy for this pathology.

Abstract Extramammary Paget disease is a rare neoplastic condition that more commonly affects postmenopausal Caucasian women. Although the vulvar area is the most frequently affected location, it corresponds solely to 1 to 2% of all vulvar malignancies. A 72-year-old female patient was observed in our outpatient clinic with a 2-year history of an erythematous and pruritic plaque on the vulva. Histopathology and immunohistochemistry studies were compatible with extramammary Paget disease of the vulva. Associated neoplastic conditions were excluded. Due to multiple relapses, the patient was submitted to three surgical interventions, including a total vulvectomy, and to external radiotherapy. The present case illustrates the chronic and recurrent nature of extramammary Paget disease despite aggressive procedures as well as the challenge in obtaining tumor-free resection margins.