Journal
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 32, Issue 8, Pages 911-914Publisher
WALTER DE GRUYTER GMBH
DOI: 10.1515/jpem-2019-0055
Keywords
Cushing disease; Cushing syndrome; nonbullous congenital ichthyosis erythroderma
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Funding
- 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
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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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