期刊
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
卷 32, 期 8, 页码 911-914出版社
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2019-0055
关键词
Cushing disease; Cushing syndrome; nonbullous congenital ichthyosis erythroderma
资金
- Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health intramural research program [Z01-HD008920-1]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [ZIAHD008920] Funding Source: NIH RePORTER
Nonbullous congenital ichthyosis erythroderma (CIE) is an autosomal recessive disorder of ineffective keratinization. We present a unique case of a 16-year-old female with CIE who developed Cushing disease (CD) at age 13 with concomitant worsening of her skin disease. After transsphenoidal resection of her pituitary adenoma, she had both resolution of her Cushing symptoms and significantly milder skin manifestations of her CIE. To the best of our knowledge, this is the first reported case of a patient with both CD and CIE, one that is important in demonstrating the role of glucocorticoids in this disorder.
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