Neonatal Hyperpigmentation: Diagnosis of Familial Glucocorticoid Deficiency with a Novel Mutation in the Melanocortin-2 Receptor Gene
Version of Record online: 14 NOV 2013
© 2013 Wiley Periodicals, Inc.
Volume 31, Issue 1, pages e13–e17, January/February 2014
How to Cite
Jacoby, E., Barzilai, A., Laufer, J., Pade, S., Anikster, Y., Pinhas-Hamiel, O. and Greenberger, S. (2014), Neonatal Hyperpigmentation: Diagnosis of Familial Glucocorticoid Deficiency with a Novel Mutation in the Melanocortin-2 Receptor Gene. Pediatric Dermatology, 31: e13–e17. doi: 10.1111/pde.12247
- Issue online: 7 JAN 2014
- Version of Record online: 14 NOV 2013
Familial glucocorticoid deficiency (FGD), a rare autosomal recessive disorder of insensitivity to adrenocorticotropic hormone (ACTH), is characterized by isolated glucocorticoid deficiency and preserved mineralocorticoid production. The clinical features include generalized hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections. Here we describe the case of an infant who exhibited generalized hyperpigmentation and hypoglycemia. A high morning blood ACTH level and low blood cortisol level confirmed the diagnosis of FGD. The patient was found to be homozygous for a novel mutation in the melanocortin-2 receptor gene (635insC, I154H). Early initiation of corticosteroid treatment led to normalization of morning blood ACTH levels and the patient thrived, with subsequent fading of the hyperpigmentation.