Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings,☆☆,

https://doi.org/10.1016/S0091-6749(95)70159-1Get rights and content

Abstract

Netherton's syndrome is a rare symptom complex characterized by greatly elevated IgE levels with atopic manifestations, an ichthyotic skin disorder (ichthyosis linearis circumflexa and/or congenital lamellar ichthyosis), and the characteristic hair abnormality trichorrhexis invaginata. It may be confused with atopic dermatitis but does not respond to topical corticosteroid treatment. Netherton's syndrome is therefore of considerable importance to allergists. In this article we report the results of the clinical and immunologic evaluation of a previously unreported patient who responded to treatment with 12% ammonium lactate lotion and management of his allergic disease. Furthermore, we have reviewed the English literature and compared the findings in our patient with those of 43 other reported patients. Our patient shared the features of other previously reported patients with this disorder. We conclude that this disease should be included among the other disorders with elevated IgE. Patients may benefit from evaluation and treatment of their allergic symptoms and topical skin treatment with ammonium lactate. (J ALLERGY CLIN IMMUNOL 1995;95:16-23.)

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.

References (48)

  • J Altman et al.

    Netherton's syndrome and ichthyosis linearis circumflexa

    Arch Dermatol

    (1969)
  • MB Brodin et al.

    Netherton's syndrome

    Cutis

    (1980)
  • JAQ. Bustos

    Netherton syndrome, enteropathic acrodermatitis, and zinc

    Lancet

    (1977)
  • R Caputo et al.

    Netherton's syndrome in two adult brothers

    Arch Dermatol

    (1984)
  • PL Duvina et al.

    Netherton's disease: a case of congenital ichthyosiform non-bullous erythroderma (Brocq) with trichorrhexis invaginata

    Ital Gen Rev Dermatol

    (1978)
  • D Greig et al.

    Growth abnormality in Netherton's syndrome

    Australas J Dermatol

    (1982)
  • AK Gupta et al.

    Hair abnormalities and a rash with a double-edged scale

    Arch Dermatol

    (1966)
  • I Hausser et al.

    Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy

    Arch Dermatol Res

    (1989)
  • K Hersle

    Netherton's disease and ichthyosis linearis circumflexa

    Acta Derm Venereol (Stockh)

    (1972)
  • SK Jones et al.

    Neonatal hypernatraemia in two siblings with Netherton's syndrome

    Br J Dermatol

    (1986)
  • CE Julius et al.

    Netherton's syndrome in a male

    Arch Dermatol

    (1971)
  • V Kassis et al.

    Familial Netherton's disease

    Cutis

    (1986)
  • BR. Krafchik

    What syndrome is this? Netherton syndrome

    Pediatr Dermatol

    (1992)
  • J Marshall et al.

    Black piedra in a child with pili torti, bamboo hair and congenital ichthyosiform erythroderma

    S Afr Med J

    (1961)
  • Cited by (124)

    • Cutaneous Findings in Inborn Errors of Immunity: An Immunologist's Perspective

      2023, Journal of Allergy and Clinical Immunology: In Practice
    • Persistent methicillin-resistant Staphylococcus aureus bacteremia in an adult patient with Netherton's syndrome: A case report

      2022, Journal of Infection and Chemotherapy
      Citation 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 Dermatology
    • Amnion membrane allografts in a critically ill infant with Netherton syndrome–like phenotype

      2019, JAAD Case Reports
      Citation 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 Practice
    View all citing articles on Scopus

    From the Departments of Medicine and Pathology, University of South Alabama, Mobile.

    ☆☆

    Reprint requests: David L. Smith, MD, PO Box 8772, Mobile, AL 36689.

    0091-6749/95 $3.00 + 0 1/1/58349

    View full text