Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings☆,☆☆,★
Section snippets
CASE REPORT
C.C., now 3 years of age, was the term product of an uneventful pregnancy with a birth weight of 7 pounds, 0 ounces. There was no history of consanguinity. A generalized erythematous rash was noted at birth. A punch biopsy specimen (Fig. 1) was interpreted as showing nonspecific inflammation, and a clinical diagnosis of scalded skin syndrome was made. The nursery course was complicated by hypernatremic dehydration with a serum sodium level of 153 mg/dl. Multiple formula intolerances were noted,
The historical context
NS, originally described by Dr. E. W. Netherton in 1958, 3 is a disorder consisting of ichthyosis (ILC and/or congenital lamellar ichthyosis), hair shaft defects including TI, and, usually, atopic manifestations. TI is considered characteristic of the disease; patients with similar skin findings but without TI have been generally excluded from reviews.
Case reports and reviews of NS have appeared primarily in the dermatology literature, with the result that it is not well known among allergists.
CONCLUSIONS
NS may be confused with atopic dermatitis. The skin and hair abnormalities of NS may be interpreted as being caused by intermittent disruption of the normal keratinization process, but the underlying cause of this syndrome, as with the other syndromes with elevated IgE, remains obscure. Autosomal recessive inheritance and elevated IgE levels are compatible with a defect in a regulatory gene for IgE production. It seems likely that abnormal T-cell responses, similar to those found in atopic
Acknowledgements
We thank Jack L. Lesher, MD, University of Georgia School of Medicine, for assistance in diagnosis and obtaining records and biopsy material on our patient.
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Cited by (124)
Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective
2023, Journal of Allergy and Clinical Immunology: In PracticePersistent methicillin-resistant Staphylococcus aureus bacteremia in an adult patient with Netherton's syndrome: A case report
2022, Journal of Infection and ChemotherapyCitation Excerpt :Practically, patients with Netherton's syndrome have increased rates of respiratory and gastrointestinal infections as well, and immunoglobulin replacement therapy can reduce episodes of such bacterial infections [5]. Moreover, the long-term exposure to topical corticosteroid for the purpose of controlling the ichthyosis condition inevitably provokes a steroid-induced cellular immunodeficiency [3,14]. Thus, we should clinically regard patients with Netherton's syndrome as immunocompromised patients.
Neonatal dermatology
2021, Pediatric DermatologyAmnion membrane allografts in a critically ill infant with Netherton syndrome–like phenotype
2019, JAAD Case ReportsCitation Excerpt :A skin examination at birth revealed sparse hair on the scalp and erythroderma with areas of desquamation on all limbs, although there were no erosions or ulcerations. This presentation was later thought to be consistent with NS based on the clinical appearance, findings of trichorrhexis invaginata, and genetic testing that revealed a chromosome 5 deletion resulting in monosomy for SPINK5.1 The second copy of SPINK5 was normal, raising the possibility of a Netherton-like syndrome.
Eosinophilic Esophagitis: A Primary Disease of the Esophageal Mucosa
2017, Journal of Allergy and Clinical Immunology: In PracticeNetherton syndrome in a Bulgarian patient: Presentation of a case and an update of therapeutic options
2023, Wiener Medizinische Wochenschrift
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From the Departments of Medicine and Pathology, University of South Alabama, Mobile.
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Reprint requests: David L. Smith, MD, PO Box 8772, Mobile, AL 36689.
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