Case Report
Volume 9 Issue 7 - 2020
Adrenal Hypofunction in a Patient with Netherton Syndrome, Septo-Optic Dysplasia and Joubert Syndrome
Gutierrez Alvarez Ana1, Dror Tal1, Oza Vikash2, Sodhi Misha1, Mehta Shilpa1 and Shah Bina1*
1Department of Pediatrics, Division of Pediatric Endocrinology, New York University School of Medicine, New York, NY, USA
2Department of Pediatrics, Division of Pediatric Dermatology, New York University School of Medicine, New York, NY, USA
*Corresponding Author: Shah Bina, Department of Pediatrics, Division of Pediatric Endocrinology, New York University School of Medicine, New York, NY, USA.
Received: June 02, 2020; Published: June 22, 2020




Abstract

Netherton Syndrome (NS) is caused by a mutation in the SPINK5 presenting with ichthyosiform erythroderma, atopy and hair abnormalities. NS can be difficult to diagnose and could be frequently mistaken with atopic or seborrheic dermatitis that fails to respond to topical steroids, this can predispose to deliberate use of topical steroids in these patients. The defective stratum corneum in NS increases absorption of any topical medication including corticosteroids predisposing to exogenous Cushing Syndrome. We present the case of a 2 week old female infant with congenital hydrocephalus and Septo-Optic dysplasia (SOD) that was managed with topical steroids for presumed severe seborrheic dermatitis. At 2 months she presented with emesis and cushingoid facies. She was evaluated for panhypopituitarism showing low serum cortisol < 0.2 µg/dl with normal pituitary function. Cosyntropin stimulation test confirmed adrenal hypofunction. Dermatologic evaluation showed skin biopsy and hair exam findings pathognomonic of NS. Genetic testing confirmed diagnosis of NS. Topical steroids were titrated-and Hypothalamic Pituitary Adrenal (HPA) axis fully recovered at 12 months of age. NS should be suspected in cases of seborrheic dermatitis refractory to topical steroids and its cautious use is advised since avid absorption in a disrupted skin barrier may lead to suppression of HPA axis.

Keywords: Netherton Syndrome; Septo-Optic Dysplasia; Adrenal Insufficiency; Joubert Syndrome; Congenital Ichthyosiform

References

  1. Halverstam Caroline P., et al. "Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome". Pediatric Dermatology1 (2007): 42-45.
  2. Pruszkowski Anne., et al. "Neonatal and infantile erythrodermas". Archives of Dermatology7 (2000): 875-880.
  3. Maatouk I., et al. "Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome". Clinical and Experimental Dermatology4 (2012): 364-366.
  4. Halverstam Caroline P., et al. "Stiff skin syndrome in a newborn infant". International Journal of Dermatology8 (2012): 993-995.
  5. Dev Tanvi., et al. "Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management". BMJ Case Reports (2017): bcr-2017-220227.
  6. Sund Kristen Lipscomb., et al. "Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships". Genetics in Medicine1 (2012): 70-78.
  7. McQuillan Ruth., et al. "Runs of homozygosity in European populations". The American Journal of Human Genetics3 (2008): 359-372.
  8. Campbell Harry., et al. "Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits". Human Molecular Genetics2 (2007): 233-241.
  9. Briot Anaïs., et al. "Kallikrein 5 induces atopic dermatitis–like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome". The Journal of Experimental Medicine5 (2009): 1135-1147.
  10. Bens G., et al. "Topical treatment of Netherton's syndrome with tacrolimus ointment without significant systemic absorption". British Journal of Dermatology1 (2003): 224-226.
Citation: Shah Bina., et al. “Adrenal Hypofunction in a Patient with Netherton Syndrome, Septo-Optic Dysplasia and Joubert Syndrome”. EC Paediatrics 9.7 (2020): 60-65.

PubMed Indexed Article


EC Pharmacology and Toxicology
LC-UV-MS and MS/MS Characterize Glutathione Reactivity with Different Isomers (2,2' and 2,4' vs. 4,4') of Methylene Diphenyl-Diisocyanate.

PMID: 31143884 [PubMed]

PMCID: PMC6536005


EC Pharmacology and Toxicology
Alzheimer's Pathogenesis, Metal-Mediated Redox Stress, and Potential Nanotheranostics.

PMID: 31565701 [PubMed]

PMCID: PMC6764777


EC Neurology
Differences in Rate of Cognitive Decline and Caregiver Burden between Alzheimer's Disease and Vascular Dementia: a Retrospective Study.

PMID: 27747317 [PubMed]

PMCID: PMC5065347


EC Pharmacology and Toxicology
Will Blockchain Technology Transform Healthcare and Biomedical Sciences?

PMID: 31460519 [PubMed]

PMCID: PMC6711478


EC Pharmacology and Toxicology
Is it a Prime Time for AI-powered Virtual Drug Screening?

PMID: 30215059 [PubMed]

PMCID: PMC6133253


EC Psychology and Psychiatry
Analysis of Evidence for the Combination of Pro-dopamine Regulator (KB220PAM) and Naltrexone to Prevent Opioid Use Disorder Relapse.

PMID: 30417173 [PubMed]

PMCID: PMC6226033


EC Anaesthesia
Arrest Under Anesthesia - What was the Culprit? A Case Report.

PMID: 30264037 [PubMed]

PMCID: PMC6155992


EC Orthopaedics
Distraction Implantation. A New Technique in Total Joint Arthroplasty and Direct Skeletal Attachment.

PMID: 30198026 [PubMed]

PMCID: PMC6124505


EC Pulmonology and Respiratory Medicine
Prevalence and factors associated with self-reported chronic obstructive pulmonary disease among adults aged 40-79: the National Health and Nutrition Examination Survey (NHANES) 2007-2012.

PMID: 30294723 [PubMed]

PMCID: PMC6169793


EC Dental Science
Important Dental Fiber-Reinforced Composite Molding Compound Breakthroughs

PMID: 29285526 [PubMed]

PMCID: PMC5743211


EC Microbiology
Prevalence of Intestinal Parasites Among HIV Infected and HIV Uninfected Patients Treated at the 1o De Maio Health Centre in Maputo, Mozambique

PMID: 29911204 [PubMed]

PMCID: PMC5999047


EC Microbiology
Macrophages and the Viral Dissemination Super Highway

PMID: 26949751 [PubMed]

PMCID: PMC4774560


EC Microbiology
The Microbiome, Antibiotics, and Health of the Pediatric Population.

PMID: 27390782 [PubMed]

PMCID: PMC4933318


EC Microbiology
Reactive Oxygen Species in HIV Infection

PMID: 28580453 [PubMed]

PMCID: PMC5450819


EC Microbiology
A Review of the CD4 T Cell Contribution to Lung Infection, Inflammation and Repair with a Focus on Wheeze and Asthma in the Pediatric Population

PMID: 26280024 [PubMed]

PMCID: PMC4533840


EC Neurology
Identifying Key Symptoms Differentiating Myalgic Encephalomyelitis and Chronic Fatigue Syndrome from Multiple Sclerosis

PMID: 28066845 [PubMed]

PMCID: PMC5214344


EC Pharmacology and Toxicology
Paradigm Shift is the Normal State of Pharmacology

PMID: 28936490 [PubMed]

PMCID: PMC5604476


EC Neurology
Examining those Meeting IOM Criteria Versus IOM Plus Fibromyalgia

PMID: 28713879 [PubMed]

PMCID: PMC5510658


EC Neurology
Unilateral Frontosphenoid Craniosynostosis: Case Report and a Review of the Literature

PMID: 28133641 [PubMed]

PMCID: PMC5267489


EC Ophthalmology
OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling

PMID: 29333536 [PubMed]

PMCID: PMC5766278


EC Neurology
Longer Duration of Downslope Treadmill Walking Induces Depression of H-Reflexes Measured during Standing and Walking.

PMID: 31032493 [PubMed]

PMCID: PMC6483108


EC Microbiology
Onchocerciasis in Mozambique: An Unknown Condition for Health Professionals.

PMID: 30957099 [PubMed]

PMCID: PMC6448571


EC Nutrition
Food Insecurity among Households with and without Podoconiosis in East and West Gojjam, Ethiopia.

PMID: 30101228 [PubMed]

PMCID: PMC6086333


EC Ophthalmology
REVIEW. +2 to +3 D. Reading Glasses to Prevent Myopia.

PMID: 31080964 [PubMed]

PMCID: PMC6508883


EC Gynaecology
Biomechanical Mapping of the Female Pelvic Floor: Uterine Prolapse Versus Normal Conditions.

PMID: 31093608 [PubMed]

PMCID: PMC6513001


EC Dental Science
Fiber-Reinforced Composites: A Breakthrough in Practical Clinical Applications with Advanced Wear Resistance for Dental Materials.

PMID: 31552397 [PubMed]

PMCID: PMC6758937


EC Microbiology
Neurocysticercosis in Child Bearing Women: An Overlooked Condition in Mozambique and a Potentially Missed Diagnosis in Women Presenting with Eclampsia.

PMID: 31681909 [PubMed]

PMCID: PMC6824723


EC Microbiology
Molecular Detection of Leptospira spp. in Rodents Trapped in the Mozambique Island City, Nampula Province, Mozambique.

PMID: 31681910 [PubMed]

PMCID: PMC6824726


EC Neurology
Endoplasmic Reticulum-Mitochondrial Cross-Talk in Neurodegenerative and Eye Diseases.

PMID: 31528859 [PubMed]

PMCID: PMC6746603


EC Psychology and Psychiatry
Can Chronic Consumption of Caffeine by Increasing D2/D3 Receptors Offer Benefit to Carriers of the DRD2 A1 Allele in Cocaine Abuse?

PMID: 31276119 [PubMed]

PMCID: PMC6604646


EC Anaesthesia
Real Time Locating Systems and sustainability of Perioperative Efficiency of Anesthesiologists.

PMID: 31406965 [PubMed]

PMCID: PMC6690616


EC Pharmacology and Toxicology
A Pilot STEM Curriculum Designed to Teach High School Students Concepts in Biochemical Engineering and Pharmacology.

PMID: 31517314 [PubMed]

PMCID: PMC6741290


EC Pharmacology and Toxicology
Toxic Mechanisms Underlying Motor Activity Changes Induced by a Mixture of Lead, Arsenic and Manganese.

PMID: 31633124 [PubMed]

PMCID: PMC6800226


EC Neurology
Research Volunteers' Attitudes Toward Chronic Fatigue Syndrome and Myalgic Encephalomyelitis.

PMID: 29662969 [PubMed]

PMCID: PMC5898812


EC Pharmacology and Toxicology
Hyperbaric Oxygen Therapy for Alzheimer's Disease.

PMID: 30215058 [PubMed]

PMCID: PMC6133268


News and Events


July Issue Release

We always feel pleasure to share our updates with you all. Here, notifying you that we have successfully released the July issue of respective journals and can be viewed in the current issue pages.

Submission Deadline for August Issue

Ecronicon delightfully welcomes all the authors around the globe for effective collaboration with an article submission for the August issue of respective journals. Submissions are accepted on/before July 21, 2020.

Certificate of Publication

Ecronicon honors with a "Publication Certificate" to the corresponding author by including the names of co-authors as a token of appreciation for publishing the work with our respective journals.

Best Article of the Issue

Editors of respective journals will always be very much interested in electing one Best Article after each issue release. The authors of the selected article will be honored with a "Best Article of the Issue" certificate.

Certifying for Review

Ecronicon certifies the Editors for their first review done towards the assigned article of the respective journals.

Latest Articles

The latest articles will be updated immediately on the articles in press page of the respective journals.

Immediate Assistance

The prime motto of this team is to clarify all the queries without any delay or hesitation to avoid the inconvenience. For immediate assistance on your queries please don't hesitate to drop an email to editor@ecronicon.uk