Do you know this syndrome? Xeroderma pigmentosum (XP).

Xeroderma pigmentosum is a rare genetic disease characterized by clinical and cellular hypersensitivity to ultraviolet radiation and DNA repair defects. Patients with xeroderma pigmentosum experience sun-induced cutaneous and ocular abnormalities, including cancer. Some develop neurological disorders. We describe the case of a 2 year-old child with DeSanctis-Cacchione's syndrome, with severe neurological deterioration associated with schizencephaly. In the current clinical classification of xeroderma pigmentosum, the term is reserved for cases with severe neurological disorders linked to dwarfism and immature sexual development. The association of xeroderma pigmentosum with schizencephaly has not to date been reported in the literature.

Annular elastolytic giant cell granuloma--case report.

Annular elastolytic giant cell granuloma is a rare granulomatous skin disease characterized histologically by phagocytosis of elastic fibers by multinucleated giant cells and clinically by annular patches with elevated borders and atrophic centers found mainly on sun-exposed skin. The pathogenesis of the disease is controversial. We report the case of a 44-year-old woman with classical clinical and histological findings of the disease whose condition improved when hydroxychloroquine was administered over a four-week period.

Acral lichen sclerosus et atrophicus--case report.

Lichen sclerosus et atrophicus is a chronic disorder of the skin and mucosal surfaces, most commonly affecting the female genitalia. Few cases of lichen sclerosus et atrophicus confined to the feet and/or hands have been reported. We report a case of lichen sclerosus et atrophicus involving first the extremities and then the perigenital area.

Proliferating trichilemmal tumor--case report.

Proliferating trichilemmal tumor (PTT) is an uncommon neoplasm arising from the follicular isthmus. Its histological characteristic is the presence of trichilemmal keratinization. PTT usually presents as a solitary nodule on the scalp of elderly women. We describe a case of a PTT on the gluteal region (buttocks) of a 16-year-old female, presenting as a solitary nodule.

Granuloma anular elastolítico gigantocelular: relato de caso / Annular elastolytic giant cell granuloma: case report

O granuloma anular elastolítico gigantocelular é dermatose granulomatosa rara, caracterizada, histologicamente, por fagocitose das fibras elásticas por células gigantes multinucleadas e, clinicamente, por placas anulares com bordas elevadas e centro atrófico, com preferência por áreas expostas. A patogênese é controversa. Descreve-se um caso de mulher de 44 anos, com achados clínicos e histológicos clássicos, que apresentou boa resposta à hidroxicloroquina, após o período de 1 mês.

Annular elastolytic giant cell granuloma is a rare granulomatous skin disease characterized histologically by phagocytosis of elastic fibers by multinucleated giant cells and clinically by annular patches with elevated borders and atrophic centers found mainly on sun-exposed skin. The pathogenesis of the disease is controversial. We report the case of a 44-year-old woman with classical clinical and histological findings of the disease whose condition improved when hydroxychloroquine was administered over a four-week period.

Líquen escleroso e atrófico acral: relato de caso / Acral lichen sclerosus et atrophicus: case report

O líquen escleroso e atrófico é uma doença crônica da pele e mucosas, que, usualmente, afeta a área genital de mulheres. Poucos casos de líquen escleroso e atrófico, confinados nos pés e/ou mãos, têm sido relatados. Relatamos um caso de líquen escleroso e atrófico envolvendo as extremidades e,posteriormente, a área perigenital.

Lichen sclerosus et atrophicus is a chronic disorder of the skin and mucosal surfaces, most commonly affecting the female genitalia. Few cases of lichen sclerosus et atrophicus confined to the feet and/or hands have been reported. We report a case of lichen sclerosus et atrophicus involving first the extremities and then the perigenital area.

Tumor triquilemal proliferante: relato de caso / Proliferating trichilemmal tumor: case report

Tumor triquilemal proliferante é uma neoplasia incomum que surge do istmo folicular, cuja característica histológica é a presença de ceratinização triquilemal. Apresenta-se usualmente como nódulo solitário no couro cabeludo de mulheres idosas. Descreve-se um caso de tumor triquilemal proliferante que se apresenta como lesão tumoral nodular na região glútea de uma jovem de 16 anos de idade.

Proliferating trichilemmal tumor (PTT) is an uncommon neoplasm arising from the follicular isthmus. Its histological characteristic is the presence of trichilemmal keratinization. PTT usually presents as a solitary nodule on the scalp of elderly women. We describe a case of a PTT on the gluteal region (buttocks) of a 16-year-old female, presenting as a solitary nodule.

Hemangiomas extensos da infância tratados com propranolol: relato de dois caso / Propranolol for extensive hemangiomas of infancy: two case reports

Hemangiomas são os tumores benignos mais frequentes da infância, apresentando como história natural crescimento rápido, seguido de uma fase de regressão que culmina com o desaparecimento parcial ou total da lesão. Opções terapêuticas devem ser avaliadas para casos extensos. Os glicocorticoides sistêmicos são a terapia de escolha; contudo, há relatos de que o propranolol oferece resultados melhores e mais rápidos. Este trabalho descreve dois casos de hemangioma infantil de grande volume associados à limitação funcional e desfiguração estética com significativa resposta ao propranolol, droga esta que surge como uma proposta terapêutica oferecendo resultados satisfatórios e mantidos, com poucos efeitos colaterais.

Hemangiomas are the most common benign tumors of childhood. They show rapid growth, followed by a regression phase that culminates in the partial or total disappearance of the lesion. Therapeutic options should be evaluated for extensive cases. Systemic glucocorticoids are the therapy of choice; however, there are reports that propranolol offers better and faster results. We report two cases of large volume infantile hemangioma associated with functional limitation and aesthetic disfigurement, treated successfully with propranolol, a drug that comes as a therapeutic option providing satisfactory and maintained results, with few side effects.