Granulomatous mycosis fungoides - A diagnostic challenge

AbstractGranulomatous mycosis fungoides is a rare subtype of T-cell cutaneous lymphoma. Due to its clinical heterogenicity the diagnosis is delayed and based on histopathological and immuno-histochemical findings, sometimes requiring gene rearrangement studies for confirmation. We report the case of a patient who was submitted to several biopsies before diagnostic conclusion.

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.

Dermatoscopic findings of urticaria pigmentosa / Achados dermatoscopicos na urticaria pigmentosa

Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various organs. The maculopapular cutaneus mastocytosis is divided into three subtypes: papular/plaque variant, urticaria pigmentosa and eruptive macular telangiectasia perstans. Dermoscopic may help to better characterize the different forms of cutaneus mastocytosis. We report a 55 year-old female with urticaria pigmentosa and its dermoscopy.

Mastocitose é uma doença rara caracterizada pela proliferação e acúmulo de mastócitos em vários órgãos. A mastocitose cutanea maculopapular divide-se em três subtipos: variante máculo-papular, urticária pigmentosa e telangiectasia macular eruptiva perstans. A dermatoscopia pode ajudar a caracterizar melhor as diferentes formas de mastocitose cutânea. Relatamos um caso de paciente feminina de 55 anos com urticária pigmentosa e sua dermatoscopia.

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

We present a case of bullosis diabeticorum. It is a rare disorder, probably underdiagnosed, associated with long-term diabetes mellitus. Its etiology remains unclear. It is characterized by tense blisters, with serous content, recurrent and spontaneous on normal skin especially in the acral regions. Displays self-limiting course. No specific laboratory tests for diagnosis of this bullous disease exist. Clinical and conservative management to prevent secondary infection reduces morbidity in diabetic patients.

Apresenta-se um caso de bulose diabeticorum, que consiste em uma desordem rara de etiologia ainda incerta, provavelmente subdiagnosticada, associada ao diabetes mellitus de longa evolução. Caracteriza-se por bolhas tensas, recorrentes, de conteúdo seroso e aparecimento espontâneo sobre pele pouco inflamada, especialmente nas regiões acrais, que evolui com curso autolimitado. Não há testes laboratoriais específicos para o diagnóstico desta bulose. O reconhecimento clínico e o manejo conservador para evitar infecção secundária reduz a morbidade nos pacientes diabéticos.

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.

Morbid obesity in an adolescent with Prader-Willi syndrome / Obesidad mórbida en una adolescente con síndrome de Prader-Willi

Prader- Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m², that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels ofblood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high bloodpressure and respiratory failure, which needed intensive care support. Moreover, sequéis and clear signs of recent selfinjuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader- Willi syndrome are emphasized.

El síndrome de Prader-Willi es un desorden multisistémico infrecuente causado por defectos genéticos del cromosoma 15 (15qll-ql3), debido a deleciones o disomía uniparental. Se caracteriza por hipotonía neonatal, dismorfias faciales, baja estatura, incapacidades motoras y mentales, problemas conductuales, hiperfagia, obesidad precoz e hipogonadismo hipogonadotrófico. Presentamos una mujer de 17 años, con IMC de 74 Kg/m² con diagnóstico genético previo del síndrome que ingresó con anasarca, intensa cianosis, disnea y oliguria. Presentaba elevación plasmática de urea, creatinina y aminotransferasas, asociadas con hiperkalemia e hiperuricemia. Había utilizado regularmente ñuoxetina durante los seis meses precedentes y evolucionó con hipertensión arterial severa e insuficiencia respiratoria, que requirieron de cuidados intensivos. Además, se constataron cicatrices y claras señales de automutilación reciente en su tronco, antebrazos y manos. Se destacan los hallazgos de obesidad mórbida, anasarca, automutilación, hiperuricemia e hipoxemia en el síndrome de Prader-Willi.

Drug-associated livedoid vasculopathy

Livedoid vasculopathy is reported in a 38-year-old white female, who first presented with spontaneous skin lesions in the left ankle, at 17 years old. For the last fifteen years she used low-dose oral contraceptive (gestodene and ethinylestradiol) and persisted asymptomatic for a long period. Nevertheless, painful red papules and dark spots reappeared in the same area and progressed to an intensely tender and irregular shallow ulcer, during summer. Skin biopsy samples showed dermal vessels with subintimal fibrinoid necrosis and intraluminal thrombosis, without clear inflammation. Cutaneous lesions have improved faster after topical betamethasone was added to treatment. Data from the present case suggests a drug-associated livedoid vasculopathy.

Relata-se caso de vasculopatia livedóide em uma mulher branca de 38 anos, que inicialmente apresentou lesões cutâneas espontâneas no tornozelo esquerdo aos 17 anos de idade. Durante os últimos quinze anos, fez uso de contraceptivos orais (gestodene e etinilestradiol). Permaneceu assintomática por longo período; entretanto, no último verão, pápulas avermelhadas dolorosas e manchas escuras reapareceram na mesma área e formaram uma úlcera rasa irregular intensamente dolorosa. O exame das amostras da biópsia de pele mostrou vasos dérmicos com necrose fibrinóide e trombose intraluminar, sem reação inflamatória. As lesões cutâneas apresentaram cicatrização mais rápida após acréscimo de betametasona tópica ao esquema terapêutico. Os dados do presente caso sugerem vasculopatia livedóide associada ao uso de droga.