Abstract: Panniculitis is a rare clinical finding in dermatomyositis, with less than 30 cases reported and there is only one case associated with the amyopathic subtype described in the literature. The present report describes a 49-year-old female patient that one year after being diagnosed with amyopathic dermatomyositis, presented indurated, painful, erythematous to violaceous nodules located on the upper limbs, thighs and gluteal region. Skin biopsy revealed lobular panniculitis with a lymphocytic infiltrate. The patient was treated with prednisone and methotrexate, but remained unresponsive to treatment.

RESUMO Considerando o desafio do diagnóstico clínico de lesões cutâneas de apresentação bolhosa, o presente trabalho procurou discutir as alterações histológicas, a apresentação e o raciocínio clínico para o diagnóstico de tais lesões. Paralelamente, a importância da patologia foi revisada na identificação destes quadros. Neste relato de caso, destaca-se a evolução clínica de um quadro de pênfigo foliáceo.

ABSTRACT Given the challenge of clinical diagnosis of bullous skin lesions, this report aimed to discuss the histological changes, the presentation and clinical reasoning for diagnosis of these lesions. At the same time, the importance of the pathology was reviewed to identify these clinical scenarios. In this case report, we highlighted the clinical progression of a case of pemphigus foliaceus.

Abstract Scleromyxedema is a rare chronic cutaneous mucinosis of unknown etiology. It is characterized by papular eruption and scleroderma with microscopic evidence of mucin deposition, fibroblast proliferation, and fibrosis. Most patients with scleromyxedema have monoclonal gammopathy and systemic manifestations resulting in significant morbidity and mortality. Several types of treatment have been reported with partial or inconsistent responses. Despite showing unpredictable evolution, systemic consequences of scleromyxedema and treatment side effects may result in death. We describe a rare case of a patient with scleromyxedema without paraproteinemia with systemic involvement that evolved to death despite treatment with cyclophosphamide.

A síndrome de Bannayan-Riley-Ruvalcaba é afecção rara, causada por mutações no gene PTEN. Apresenta associação de múltiplos lipomas, macrocefalia, hemangiomas, polipose hamartomatosa intestinal, atraso do desenvolvimento e máculas salpicadas na genitália masculina. Relatamos o caso de um menino de nove meses com lesões tumorais de crescimento rápido e progressivo em três meses de evolução, macrocefalia e lentigos no pênis. Exames de imagem demonstraram extensa lipomatose com invasão da musculatura paraespinhal, alargamento do canal vertebral e compressão medular. Depois da excisão cirúrgica da massa, o anatomopatológico foi compatível com lipoma. A análise do cariótipo em cultura de adipócitos demonstrou mutação do PTEN. Apresentamos este caso por sua exuberância e raridade.

Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the penis. Imaging tests showed extensive lipomatosis with invasion of paraspinal muscles, enlargement of the spinal canal and spinal cord compression; after surgical excision of the mass, the pathology was consistent with lipoma. Adipocyte culture karyotype demonstrated PTEN mutation. We present this case for its rarity and exuberance.