Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
-
Iris R. Hartley
Abstract
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.
Award Identifier / Grant number: Z01-HD008920-1
Funding statement: Research was funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Funder Id: http://dx.doi.org/10.13039/100009633, Grant Number: Grant Z01-HD008920-1 “Molecular Genetics of Endocrine Tumors and Related Disorders”, National Institutes of Health intramural research program.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Ethical statement: Informed consent was obtained from the individual included in this study. The research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional review board or equivalent committee.
Conflict of interest: No conflict of interest.
References
1. Stratakis CA. Cushing syndrome in pediatrics. Endocrin Metab Clin 2012;41:793–803.10.1016/j.ecl.2012.08.002Search in Google Scholar PubMed PubMed Central
2. Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol 2008;88:4–14.10.2340/00015555-0415Search in Google Scholar PubMed
3. Rodriguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr 2013;104:270–84.10.1016/j.adengl.2011.11.021Search in Google Scholar PubMed
4. Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol 2009;10:351–64.10.2165/11311070-000000000-00000Search in Google Scholar PubMed
5. Palamar M, Onay H, Ertam I, Ates EA, Dereli T, et al. Genotype and anterior segment phenotype in a cohort of Turkish patients with lamellar ichthyosis. Ophthalmic Genet 2015;36:229–33.10.3109/13816810.2013.870215Search in Google Scholar PubMed
6. Goldberg AS, Stein R, Merritt NH, Inculet R, Van Uum S. A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas. J Pediatr Endocrinol Metab 2014;27:123–8.10.1515/jpem-2013-0070Search in Google Scholar PubMed
7. Bulus AD, Andiran N, Kocak M. Cushing’s syndrome: hidden risk in usage of topical corticosteroids. J Pediatr Endocrinol Metab 2014;27:977–81.10.1515/jpem-2013-0262Search in Google Scholar PubMed
8. Choudhary A, Haafiz A, Ramakrishnaiah R, Thrailkill K. Cushing’s disease presenting as cholestatic hepatitis. J Pediatr Endocrinol Metab 2014;27:1037–41.10.1515/jpem-2014-0200Search in Google Scholar PubMed
9. Borzyskowski M, Grant DB, Wells RS. Cushing’s syndrome induced by topical steroids used for the treatment of non-bullous ichthyosiform erythroderma. Clin Exp Dermatol 1976;1:337–42.10.1111/j.1365-2230.1976.tb01440.xSearch in Google Scholar PubMed
10. Stratakis CA. Skin manifestations of Cushing’s syndrome. Rev Endocr Metab Disord 2016;17:283–6.10.1007/s11154-016-9399-3Search in Google Scholar PubMed PubMed Central
11. Chedid M, Hoyle JR, Csaky KG, Rubin JS. Glucocorticoids inhibit keratinocyte growth factor production in primary dermal fibroblasts. Endocrinology 1996;137:2232–7.10.1210/endo.137.6.8641170Search in Google Scholar PubMed
12. Serres M, Viac J, Schmitt D. Glucocorticoid receptor localization in human epidermal cells. Arch Dermatol Res 1996;288:140–6.10.1007/BF02505823Search in Google Scholar PubMed
©2019 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
Articles in the same Issue
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
