Syndrome in question

AbstractMuir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it is important to evaluate the patient's first-degree relatives. The clinical course of the neoplasm is usually more indolent and the syndrome has a good prognosis. We report the case of a patient who, after a ten-year diagnosis of colorectal cancer, presented with multiple sebaceous neoplasms.

Syndrome In Question

Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma / Amiloidose sistemica primaria, cutis laxa adquirida e mucinose cutanea em paciente com mieloma multiplo

A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using histopathological techniques, besides this, the patient was also diagnosed with purpura, polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells in the bone marrow, component M in the urine and anemia. The patient developed blisters with a clear content, confirmed as mucinosis by the histopathological exam. The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and mucinosis, all related to multiple myeloma.

Mulher de 57 anos, com equimose periorbitária, frouxidão cutânea nas dobras, polineuropatia e síndrome do túnel do carpo bilateral.O exame histopatológico da lesão axilar revelou fragmentação de fibras elásticas, porém a coloração de von Kossa foi negativa;o diagnóstico foi de cútis laxa. Amiloidose sistêmica primária foi confirmada pela presença de material amilóide no exame histopatológico da pálpebra, além de púrpura, polineuropatia, síndrome do túnel do carpo bilateral e gamopatia monoclonal. Foi diagnosticada como portadora de mieloma múltiplo por apresentar 40% de plasmócitos na medula óssea, componente M urinário e anemia. A paciente evoluiu com bolhas de conteúdo citrino, cujo exame histopatológico mostrou mucinose. Os diagnósticos finais foram: amiloidose sistêmica primária, cútis laxa adquirida e mucinose, todos vinculados ao mieloma múltiplo.

Parallel ridge pattern on dermoscopy: observation in non-melanoma cases / Padrao dermatoscopico em cristas paralelas: observacao em casos nao-melanoma

The acral melanoma is the most prevalent type of melanoma in the non-Caucasian population, and dermoscopy is a useful tool for earlier diagnosis and differentiation from benign lesions. The dermoscopic pattern often associated with melanoma on the volar skin is the parallel ridge, with 99% specificity according to the literature. However, this pattern can also occur in several benign acral lesions, so it is important to make a good interpretation of this pattern, along with the clinical history and evolution.

O melanoma acral é o tipo mais prevalente de melanoma na população não caucasiana, sendo a dermatoscopia uma ferramenta útil para um diagnóstico mais precoce e diferenciação com lesões benignas. O padrão dermatoscópico, frequentemente, associado ao melanoma na pele volar é o de cristas paralelas, com 99% de especificidade segundo a literatura. No entanto, também pode ocorrer em diversas lesões acrais benignas, por isso é importante uma boa interpretação deste padrão, associado a história clínica e evolução.

Dermatoscopic findings in telangiectasia macularis eruptiva perstans / Achados dermatoscopicos na telangiectasia macular eruptiva perstans

Telangiectasia macularis eruptiva perstans is a rare form of cutaneous mastocytosis, characterized by the presence of erythematous or yellowish-brown macules with telangiectasias, preferably located on the trunk and upper limbs. We have described a case of telangiectasia macularis eruptiva perstans focusing on the dermoscopic characteristics of this disease.

A telangiectasia macular eruptiva perstans é uma forma rara de mastocitose cutânea, caracterizada pela presença de máculas eritematosas ou castanho-amareladas com telangiectasias, localizadas preferencialmente no tronco e membros superiores. Descrevemos um caso de telangiectasia macular eruptiva perstans enfocando nas características dermatoscópicas dessa doença.

Case for diagnosis / Caso para diagnostico

Linear Darier is a rare variant of Darier's Disease. The keratotic papules follow Blaschko's lines, characterizing the cutaneous mosaicism. We report the case of a 42-year-old woman who presented with small, linearly distributed, reddish-brown papules on the left mammary region, from the left flank to the hypogastrium and on the pretibial area of the left leg. Histologically, suprabasal acantholysis and dyskeratotic cells were seen, confirming the diagnosis.

Darier linear é uma variante rara da Doença de Darier. As pápulas ceratósicas se distribuem seguindo as linhas de Blaschko, caracterizando o mosaicismo do envolvimento cutâneo. Relatamos o caso de uma mulher de 42 anos que apresentava pápulas acastanhadas, distribuídas linearmente na região mamária esquerda, do flanco esquerdo ao hipogástrio e na região prétibial esquerda. Histologicamente, foram observadas acantólise suprabasal e células disceratósicas, confirmando a suposição diagnóstica.

Case for diagnosis / Caso para diagnóstico

Lichen sclerosus is a chronic inflammatory mucocutaneous disorder of unknown etiology that most commonly affects the female genitalia. Cutaneous involvement with nonhaemorrhagic bullous is very unusual. We describe a case of bullous lichen sclerosus.

Líquen escleroso é uma doença mucocutânea inflamatória, crônica, de etiologia desconhecida, que afeta mais comumente a genitália feminina. O envolvimento cutâneo com bolhas não hemorrágicas é muito raro. Descrevemos um caso de líquen escleroso bolhoso.