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.

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. .

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.

Dermatology inpatient consultation in a Portuguese university hospital.

BACKGROUND: Cutaneous findings are frequent in hospitalized patients. There are few reports regarding this subject. OBJECTIVES: To identify the frequency and the impact on clinical courses of dermatologic conditions in patients in the inpatient setting and compare the data with other similar studies. METHODS: Retrospective review of 274 hospitalized patients in non-dermatology inpatient departments who were observed by a dermatology consultant in a Portuguese central university hospital during a year. RESULTS: A total of 282 consultations were performed. The services requesting consultation most frequently were internal medicine (33.7%), surgery (10.3%), and pediatrics (8.9%). Skin infections (33.2%), eczemas (9.5%), and drug eruptions (7.3%) were the most common diagnoses. Admission diagnosis was modified in 9 cases (3.3%) by the dermatology consultant. CONCLUSION: Dermatoses are frequently misdiagnosed by non-dermatologists. Common skin diseases were responsible for most of dermatology inpatient consultations. However, in some cases the dermatology consultation changed the primary main diagnosis and had an important impact on the clinical course.

Letter: Pellagra as the initial presentation of Crohn disease.

Pellagra is a nutritional disease caused by the deficiency of niacin. We describe a case of pellagra as the initial presentation of Crohn disease, which has been rarely described in the literature.

Do you know this syndrome?

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.

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.