Brachioradial pruritus in a patient with cervical disc herniation and Parsonage-Turner syndrome

Abstract Brachioradial pruritus is a chronic sensory neuropathy of unknown etiology which affects the skin of the shoulders, arms and forearms on the insertion of the brachioradialis muscle. We describe the case of a 60-yearold woman recently diagnosed with multiple myeloma who refers paresis, severe pruritus and itching lesions on the right arm with 6 months of evolution. Investigation led to a diagnosis of Brachioradial pruritus consequent to the presence of cervical disc herniation and Parsonage-Turner syndrome. The patient started gabapentin 900mg/day with good control of itching. Corticosteroids and antihistamines are often ineffective in the treatment of BP. Gabapentin has been used with encouraging results. All patients with Brachioradial pruritus should be evaluated for cervical spine injuries.

Adult mastocytosis: a review of the Santo António Hospital 's experience and an evaluation of World Health Organization criteria for the diagnosis of systemic disease

BACKGROUND: Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs. OBJECTIVES: To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease. METHODS: The cases of twenty-four adult patients with mastocytosis were reviewed. Their clinical and laboratorial characteristics were assessed, and the properties of the criteria used to diagnose systemic mastocytosis were evaluated. RESULTS: The age of disease onset ranged from 2 to 75 years. Twenty-three patients had cutaneous involvement and 75% were referred by dermatologists. Urticaria pigmentosa was the most common manifestation of the disease. One patient with severe systemic mast cell mediator-related symptoms showed the activating V560G KIT mutation. The bone marrow was examined in 79% of patients, and mast cell immunophenotyping was performed in 67% of the participants. Systemic disease was detected in 84% of cases, and 81% of the sample had elevated serum tryptase levels. All the diagnostic criteria for systemic mastocytosis had high specificity and positive predictive value. Bone marrow biopsy had the lowest sensitivity, negative predictive value and efficiency, while the highest such values were observed for mast cell immunophenotyping. Patients were treated with regimens including antihistamines, sodium cromoglycate, alpha-interferon, hydroxyurea and phototherapy. CONCLUSIONS: Cutaneous involvement is often seen in adult mastocytosis patients, with most individuals presenting with indolent systemic disease. Although serum tryptase levels are a good indicator of mast cell burden, bone marrow biopsy should also be performed in patients with normal serum tryptase, with flow cytometry being the most adequate method to diagnose systemic disease. .

Congenital multiple clustered dermatofibroma and multiple eruptive dermatofibromas - unusual presentations of a common entity / Dermatofibroma multiplo agrupado congenito e dermatofibromas multiplos eruptivos - apresentacoes singulares de uma entidade comum

Dermatofibroma is one of the most common entities seen in dermatology clinical practice. Several clinical subtypes have nevertheless been described, all of them of uncommon occurrence. The authors present two rare clinical variants of dermatofibromas: congenital multiple clustered dermatofibroma (the presented case is the 4th congenital case to be reported so far) and multiple eruptive dermatofibromas developing in the setting of a Sjögren's syndrome. Since the uncommon subtypes may not be clinically evident, dermatologists should familiarize themselves with their main features and we advise a high level of clinical suspicion in order to reach the correct diagnosis.

O dermatofibroma é uma das entidades mais frequentemente observadas na prática clínica dermatológica. No entanto, além do dermatofibroma comum, vários subtipos clínicos de ocorrência incomum têm sido descritos na literatura. Os autores descrevem duas variantes clínicas raras de dermatofibromas: dermatofibroma múltiplo agrupado congênito (o caso apresentado é o quarto caso congênito reportado até hoje) e dermatofibromas eruptivos múltiplos no contexto de uma Síndrome de Sjögren. Estes diagnósticos menos comuns podem não ser clinicamente evidentes portanto os dermatologistas devem estar familiarizados com estas apresentações, sendo de suma importância um elevado índice de suspeita clínica.

Vulvoperineal Crohn's disease responsive to metronidazole / Doenca de Crohn vulvoperineal responsiva ao metronidazol

Crohn's disease is a multisystem chronic granulomatous inflammatory disease that primarily affects the gastrointestinal tract. In the majority of the cases, the cutaneous manifestations follow the intestinal disease, but occasionally dermatological lesions are the inaugural event and may constitute the only sign of the disease. Vulvoperineal involvement is rare, may precede bowel symptoms by months to years and may go unrecognized. Due to the paucity of reports of Crohn's disease at this location and in the absence of randomized trials, there are no standard treatments for the cutaneous disease. We describe the case of a 47 year-old woman with vulvoperineal Crohn's disease without digestive involvement, that was successfully managed with metronidazole.

A doença de Crohn é uma doença granulomatosa multissistêmica inflamatória crónica que afecta primariamente o tracto gastrointestinal. Na maioria dos casos, as manifestações cutâneas sucedem a doença intestinal, mas, ocasionalmente, as lesões dermatológicas são o primeiro evento e podem constituir o único sinal da doença. O envolvimento vulvoperineal é raro, pode preceder os sintomas intestinais em meses ou anos, e pode passar despercebido. Devido à escassez de relatos de doença de Crohn com esta localização e na ausência de ensaios clínicos randomizados, não há nenhum tratamento padrão para a doença cutânea. Descrevemos um caso de uma mulher de 47 anos com doença de Crohn vulvoperineal sem envolvimento digestivo, que foi tratada com sucesso com metronidazol.

Cutaneous lesions and finger clubbing uncovering hypocomplementemic urticarial vasculitis and hepatitis C with mixed cryoglobulinemia / Lesoes cutaneas e baqueteamento digital reveladores de vasculite urticariforme hipocomplementemica e hepatite C com crioglobulinemia mista

Urticarial vasculitis is a rare clinicopathologic entity characterized by urticarial lesions that persist for more than 24 hours and histologic features of leukocytoclastic vasculitis. Patients can be divided into normocomplementemic or hypocomplementemic. The authors report the case of a healthy 49-year-old woman with a 1-year history of highly pruritic generalized cutaneous lesions and finger clubbing. Laboratory tests together with histopathologic examination allowed the diagnosis of hypocomplementemic urticarial vasculitis, chronic hepatitis C and type II mixed cryoglobulinemia. The patient started symptomatic treatment and was referred to a gastroenterologist for management of the hepatitis C, with progressive improvement of the skin condition. The development of hypocomplementemic urticarial vasculitis in the context of chronic hepatitis C is exceedingly rare and possible pathogenic mechanisms are discussed.

A vasculite urticariforme é uma entidade clinico-patológica rara caracterizada por lesões urticariformes com duração superior a 24 horas e uma vasculite leucocitoclásica na histologia. É dividida em normo e hipocomplementêmica. Os autores relatam o caso de uma mulher saudável de 49 anos, com lesões cutâneas intensamente pruriginosas e baqueteamento digital com 1 ano de evolução. O estudo efectuado permitiu efectuar os diagnósticos de vasculite urticariforme hipocomplementêmica, hepatite C crônica e crioglobulinêmia mista tipo II. A doente iniciou tratamento sintomático e foi referenciada para a Gastroenterologia para orientação da hepatite, com melhoria progressiva das lesões cutâneas. O desenvolvimento de vasculite urticariforme hipocomplementêmica no contexto de hepatite C crónica é raro e os possíveis mecanismos patogênicos são discutidos.

Proliferating trichilemmal tumor of the nose / Tumor triquilemal proliferante do nariz

Proliferating trichilemmal tumor is a rare tumor originating in the external root sheath, that is usually found in the scalp of middle-aged or elderly females. Its histologic appearance may not correlate with its clinical behavior. In addition, there are no guidelines available for the treatment of these tumors, making its management a challenge for physicians. We report the case of a 53 year-old woman with a proliferating trichilemmal tumor on her nose, which is a very uncommon location for these lesions.

Tumor triquilemal proliferante é um tumor raro com origem na baínha radicular externa, que é encontrado geralmente no couro cabeludo de mulheres de meia idade ou idosas. A sua aparência histológica pode não se correlacionar com o seu comportamento clínico. Além disso, não há diretrizes disponíveis para o tratamento destes tumores, tornando a sua gestão um desafio para os médicos. Relatamos o caso de uma mulher de 53 anos com com um tumor triquilémico proliferante no nariz, que é uma localização muito incomum para essas lesões.

Case for diagnosis / Caso para diagnóstico

We report a clinical case of a rare variant of pemphigus - pemphigus herpetiformis - which combines the clinical features of dermatitis herpetiformis with the immunological findings of pemphigus. Due to its atypical presentation, it is frequently misdiagnosed as dermatitis herpetiformis. It is basically characterized by the herpetiform pattern of skin lesions, severe pruritus and by the presence of eosinophilic spongiosis confirmed on histopathology. We call attention to the excellent response to dapsone.

Descrevemos um caso clínico de uma variante rara de pênfigo - pênfigo herpetiforme - que combina os aspectos clínicos da dermatite herpetiforme com os achados imunológicos do pênfigo. Devido à sua apresentação atípica, é frequentemente diagnosticado equivocamente como dermatite herpetiforme. Caracteriza-se essencialmente pelo padrão herpetiforme das lesões cutâneas, prurido intenso e presença de espongiose eosinofílica no exame histopatológico. Enfatizamos a excelente resposta terapêutica à dapsona.

Do you know this syndrome? / Você conhece esta síndrome?

Lipomas are among the most common tumors seen in the soft body parts and usually are solitary lesions. The authors report a case of a male patient that presented for evaluation of multiple subcutaneous nodules that caused important functional and cosmetic impairment. The diagnosis of familial multiple lipomatosis was made. Physicians should be able to recognize and characterize this rare disease.

Os lipomas estão entre os tumores mais frequentemente observados nas partes moles do corpo, sendo geralmente lesões solitárias. Os autores relatam o caso de um paciente do sexo masculino que se apresentou para a avaliação de múltiplos nódulos subcutâneos que causavam um importante prejuízo funcional e estético. O diagnóstico final foi de lipomatose múltipla familiar. Os médicos devem ser capazes de reconhecer e caracterizar esta doença rara.

Breast cancer: 2 case reports / Cancer de mama: 2 casos clínicos

Breast cancer is the most frequently diagnosed life-threatening cancer in women and the leading cause of cancer death among them worldwide. It includes a heterogeneous collection of diseases with various histologically defined subsets, clinical presentations, responses to treatment and outcomes. We describe 2 cases of female patients with ductal breast carcinoma. Dermatologists may have an important role in diagnosing such diseases.

Mundialmente, o câncer de mama é o câncer com risco de vida mais frequentemente diagnosticado em mulheres, sendo a principal causa de morte por câncer entre estas. Inclui um grupo heterogêneo de doenças com vários subgrupos histologicamente definidos, várias apresentações clínicas, respostas e resultados ao tratamento. Nós descrevemos dois casos de pacientes do sexo feminino com carcinoma ductal da mama. O dermatologista pode ter um papel importante no diagnóstico destas doenças.

Diffuse plane xanthomatosis associated with monoclonal gammopathy / Xantomatose plana difusa associada a gamopatia monoclonal

Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no underlying disease. We describe a case associated with monoclonal gammopathy. This case shows that dermatological lesions can be the first manifestation of important hematological diseases and so physicians should be familiarized with this entity.

A xantomatose plana difusa normolipêmica (XPDN) é uma dermatose adquirida rara, muitas vezes associada a doenças sistêmicas, nomeadamente neoplasias hematológicas(sobretudo o mieloma múltiplo) ou a processos linfoproliferativos. A XPDN pode preceder o aparecimento dessas doenças em vários anos, sendo por isso recomendada uma vigilância clínica e laboratorial periódica, mesmo para os doentes que aparentemente não apresentam uma doença associada. Descrevemos um caso associado à gamopatia monoclonal. Este caso demonstra a importância das manifestações cutâneas como primeira manifestação de doenças hematológicas importantes e por isso os clínicos devem estar familiarizados com esta entidade.

Necrose adiposa do recém-nascido: a propósito de dois casos clínicos / Fat necrosis of the newborn: report on two cases

A necrose adiposa subcutânea do recém-nascido é uma paniculite rara do período neonatal. Surge, geralmente, em recém-nascidos de termo ou pós-termo, nas primeiras 4 semanas de vida, e em associação com trauma obstétrico. Caracteriza-se pelo aparecimento de placas ou nódulos subcutâneos duros, localizados ao tronco, nádegas ou coxas. O seu curso é, geralmente, benigno e autolimitado, embora possa acompanhar-se de hipercalcemia, o que obriga a uma vigilância periódica até à resolução das lesões cutâneas. Os autores descrevem 2 casos de necrose adiposa subcutânea do recém-nascido, um num recémnascido de termo, outro num prematuro, ambos associados a partos traumáticos e a sofrimento fetal.

Subcutaneous fat necrosis of the newborn is an uncommon disorder occurring during the prenatal stage. Generally occurring in full-term neonates or during the first four weeks after a traumatic delivery, the disorder is characterized by the appearance of hard subcutaneous nodules or plaques on the trunk, buttocks or thighs. It is normally a benign and transient condition, although it may be complicated by hypocalcemia, which requires close monitoring until skin lesions are cured. The authors describe two cases of subcutaneous fat necrosis of the newborn, one occurring in a full-term neonate and the other in a premature newborn, both related to traumatic delivery and fetal distress.

Poroceratose superficial disseminada num doente com colangiocarcinoma: manifestação paraneoplásica? / Disseminated superficial porokeratosis in a patient with cholangiocarcinoma: a paraneoplastic manifestation?

As poroceratoses compreendem um grupo de doenças da queratinização epidérmica, hereditárias ou adquiridas, caracterizadas histologicamente pela presença de lamela cornoide. A variante clínica designada por poroceratose superficial disseminada tem sido descrita na literatura, associada a estados de imunossupressão, como transplantação de órgãos, terapêuticas imunossupressoras e infecções. A sua associação a neoplasias sólidas foi raramente descrita na literatura, estando publicados apenas 5 casos. Descrevemos o caso clínico de um paciente que desenvolveu, subitamente, lesões de poroceratose superficial disseminada, concomitantemente ao diagnóstico de um colangiocarcinoma.

Porokeratosis refers to a group of hereditary or acquired disorders of epidermal keratinization and is characterized histologically by the presence of a cornoid lamella. The clinical variant referred to as disseminated superficial porokeratosis has been described in the literature in association with immunosuppressive conditions that include organ transplant, infections and immunosuppressive treatments. The association of disseminated superficial porokeratosis with solid organ malignancies has seldom been described, only 5 such cases having been published. The present report refers to a patient with lesions of disseminated superficial porokeratosis of sudden onset shortly before diagnosis of a cholangiocarcinoma.

Woolly hair generalizado: caso clínico e revisão da literatura / Generalized woolly hair: case report and literature review

O termo woolly hair, ou cabelo lanoso, refere-se a uma variante anormal de cabelo, que pode ser parcial ou generalizado. As variantes de woolly hair generalizado são raras e podem ocorrer isoladamente ou associadas a outras alterações cutâneas e extracutâneas. Desta forma, nestes doentes, é necessário a exclusão de certos síndromes, como o de Noonan e cardiofaciocutâneo (CFC), que cursam com importante morbilidade e mortalidade. É descrito o caso clínico de uma criança com woolly hair generalizado e queratose pilar, mas que, após avaliação dos vários órgãos e sistemas, não foi encontrada qualquer alteração ou característica associada a esses síndromes.

The term woolly hair, or tightly curled hair, refers to a structural anomaly of scalp hair, which can be partial or generalized. Generalized woolly hair variants are rare and can occur in isolation or in association with other cutaneous and extra-cutaneous abnormalities. Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. We report the clinical case of a 7 year-old boy with generalized woolly hair and keratosis pilaris. After an evaluation of organs and systems, no alteration or characteristics associated with these syndromes were found.

Pemphigus vegetans in a patient with colonic cancer.

Pemphigus vegetans is a rare variant of pemphigus vulgaris characterized by vegetating plaques in the flexural regions. The coexistence of pemphigus vegetans and internal neoplasm is rare, being described only in four cases in the literature. We report the case of a patient with a typical skin eruption of pemphigus vegetans, who was detected with colonic cancer.

A alopecia androgenética na consulta de tricologia do Hospital Geral de Santo António (cidade do Porto, Portugal) entre 2004 e 2006: estudo descritivo com componente analítico / Androgenetic alopecia in trichology consultation at the Hospital Geral de Santo António (Oporto - Portugal, 2004-2006): a descriptive study with an analytic component

FUNDAMENTOS: A alopecia androgenética é a causa mais comum de perda progressiva de cabelo. Geralmente ocorre em doentes com predisposição hereditária para esse tipo de alopecia e com androgénios circulantes. OBJETIVO: Avaliar aspectos epidemiológicos e clínicos de pacientes com alopecia androgenética pertencentes ao sexo feminino. MÉTODOS: Realizou-se estudo clínico transversal e descritivo em grupo de mulheres com alopecia androgenética observadas na consulta de tricologia entre 2004 e 2006. Os dados foram analisados com base na estatística descritiva e no teste do qui-quadrado. RESULTADOS: Foram estudadas 200 mulheres com diagnóstico clínico de alopecia androgenética. Em 68 por cento das pacientes foi detectada história familiar e, na maioria das mulheres, a alopecia era frontobiparietal. De acordo com os dados analíticos estudados, 17 por cento delas tiveram níveis baixos de zinco e 9 por cento de albumina e ferritina. Em 20 por cento foi detectada alteração no estudo hormonal. CONCLUSÃO: A alteração analítica mais detectada nas mulheres estudadas com alopecia androgenética foi a alteração hormonal.

BACKGROUND: Androgenetic alopecia is the most frequent cause of progressive hair loss. It usually affects individuals with genetic predisposition and sufficient circulating androgens. OBJECTIVE: To assess the clinical and epidemiology aspects of androgenetic alopecia in females. METHODS: A cross-sectional and descriptive study was performed. The sample comprised a group of women with androgenetic alopecia seen in trichology consultation from 2004 to 2006. The results were analyzed using descriptive statistics and the chi-square test. RESULTS: A total of 200 women with clinical diagnosis of androgenetic alopecia were studied. Family history was detected in 68 percent of patients, and the most common site was frontoparietal hairline. The laboratory tests showed that 17 percent of females had low zinc and 9 percent low albumin and ferritin levels. Twenty percent of patients presented changes in hormone levels. CONCLUSION: The most common laboratory finding in the patients studied was hormone changes.

Anetoderma occurring after hepatitis B vaccination.

Anetoderma is an elastolytic disorder of unknown origin. To our knowledge, anetoderma secondary to hepatitis B immunization has been described only once in the literature, in two siblings vaccinated at the same time. We describe, what we believe to be an additional case of such a rare disorder in a 21-year-old man. He presented with white spots and papules on his neck, upper limbs and trunk, that had developed gradually within the last 6 years without any symptoms. The initial lesions were red macules, which gradually enlarged in size and number, becoming pale. Biopsy of a sack-like lesion revealed normal epidermis and a discrete mononuclear infiltrate throughout the dermis. Association of anetoderma with hepatitis B vaccination is speculated here, as suggested by history of vaccination two weeks prior to the onset of skin eruption and ruling out other possible causes of anetoderma.