Oculoectodermal syndrome: twentieth described case with new manifestations

Abstract Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition. Our patient also reported infantile hemangioma on the right wrist and verrucous hemangioma on the left leg, the latter not previously described in the literature.

Uso da limeciclina associada com o peróxido de benzoíla no tratamento da hipomelanose macular progressiva: um estudo prospectivo / The use of lymecycline and benzoyl peroxide for the treatment of progressive macular hypomelanosis: a prospective study

A hipomelanose macular progressiva é uma dermatose de etiopatogenia pouco conhecida. A participação do Propionibacterium acnes e a resposta ao tratamento com medicamentos com atividade para essa bactéria têm sido sugeridas. Relata-se uma série de casos de 13 pacientes com hipomelanose macular progressiva tratados com limeciclina e peróxido de benzoíla durante três meses, que apresentaram excelente resposta ao tratamento e nele se mantêm durante o período de seguimento do estudo.

Progressive macular hypomelanosis is a dermatosis of uncertain etiology. The participation of Propionibacterium acnes has been suggested in view of the response achieved following therapy with drugs that are active against this bacterium. This report describes a series of thirteen patients with progressive macular hypomelanosis who were treated with an association of lymecycline and benzoyl peroxide over a three-month period. Response to treatment was excellent and the positive results were maintained during the entire follow up period.

Eritromelalgia primária: relato de caso / Primary erythromelalgia: case report

Eritromelalgia é uma síndrome clínica rara, caracterizada por calor, rubor e dor intermitente nas extremidades, sendo frequente o acometimento bilateral das extremidades inferiores. O resfriamento local provoca alívio dos sintomas, enquanto aquecimento, exercícios físicos e uso de luvas e meias intensificam o desconforto. A desordem pode ser primária ou idiopática, ou secundária a distúrbios hematológicos e doenças vasculares inflamatórias e degenerativas. Relata-se o caso de um jovem de dezoito anos, com início precoce aos dois anos de idade dos sintomas de eritema, calor e dor, seguidos de descamação nas mãos e pés, em surtos, com intervalos longos de 4 a 5 anos entre as crises.

Erythromelalgia is a rare clinical syndrome characterized by heat, redness and intermittent pain in the extremities, being most frequent the bilateral development in the lower extremities. Local cooling brings relief to symptoms, while heating, physical exercises and use of stockings/socks intensify the discomfort. This condition can be primary or idiopathic or secondary to haematological disorders and vascular inflammatory and degenerative diseases. It is reported the case of an eighteen-year-old male who presented, at the early age of two, development of the symptoms of erythema ,heat and pain followed by desquamation of hands and feet, in outbreaks, with intervals 4 to 5 years long between the crises.