MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1002/ajmg.1320470106

Медицинская библиотека · American journal of medical genetics · 1993

Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.

Grebe T A, Rimsza M E, Richter S F, Hansen R C, Hoyme H E

СтатьяПеревод в очереди

Аннотация

"Epidermal nevus syndrome" ("ENS") is a neurocutaneous disorder in which epidermal nevi are associated with other abnormalities, most commonly of the skeletal and central nervous systems. We present two cases of epidermal nevus syndrome (ENS) with very different clinical findings. The first case is a newborn with multiple linear epidermal nevi of the trunk and limbs, and several other anomalies, including bony duplications of the lower limbs and hypoplastic left heart syndrome. The second patient, a 6-year-old boy, has a linear nevus sebaceous of the scalp with severe CNS involvement, including generalized seizures, moderate mental retardation, microcephaly, and a left hemiparesis. He also has genitourinary, cardiac, and skeletal defects. These two patients exhibit several abnormalities not previously recognized and illustrate the wide clinical spectrum of "epidermal nevus syndrome." We present a review of the clinical findings in 74 cases of "ENS." Correlation was noted between the presence of skin lesions located on the head and CNS involvement. The wide clinical spectrum of "ENS" as illustrated by these two patients suggests that "ENS" is a causally heterogeneous group of disorders.

Для цитирования: Grebe T A, Rimsza M E, Richter S F, Hansen R C, Hoyme H E. Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.. American journal of medical genetics. 1993. DOI: 10.1002/ajmg.1320470106.

Предметные рубрики MeSH

Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.