ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (25)
Netherton syndrome - Skin
See also in: Hair and Scalp
Print
Other Resources UpToDate PubMed

Netherton syndrome - Skin

See also in: Hair and Scalp
Print Images (25)
Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed

Synopsis

Netherton's syndrome is a rare autosomal recessive disorder due to an abnormality in the serine protease inhibitor LEKTI. There are clinical variants, with some authors postulating this is a heterogeneous entity.

The classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs, and an atopic diathesis is frequently described; however, at birth, hair growth is sparse and failure to thrive is the most significant problem.

The incidence may be as high as 1 in 50,000 births; 18% of all congenital erythrodermas are attributed to Netherton's. The disorder is reported in all races with females affected more than males.

Disease is characterized by erythroderma at birth or in the first weeks of life generally associated with generalized scaling or peeling. A collodion membrane and ectropion are rare. By age 2 a characteristic serpiginous migratory annular erythema with a distinctive scale (ichthyosis linearis circumflexa) occurs and changes with time in size, shape, and location. Pruritus is frequent. In patients with severe disease, the erythroderma and ichthyosis persist through life. Although skin changes improve with age, there are intermittent exacerbations. Hair shaft abnormalities develop in infancy but may improve with age. The hair is sparse, short, and brittle.

75% of patients have an atopic diathesis with food allergies, eczematous plaques of the flexures, eosinophilia, and increased IgE levels. There is an increased susceptibility to skin and respiratory infections.

Failure to thrive is common in infancy, probably due to dermopathic enteropathy, and leads to short stature; most patients are below the 25th percentile in height and weight. 20% of neonates experience the complications of electrolyte imbalance, thermoregulatory problems, pneumonia, and/or sepsis.

Codes

ICD10CM:
Q80.8 – Other congenital ichthyosis

SNOMEDCT:
312514006 – Netherton's syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated: 05/13/2015
Copyright © 2019 VisualDx®. All rights reserved.
Netherton syndrome - Skin
See also in: Hair and Scalp
Print 25 Images Filter Images
View all Images (25)
(with subscription)
 Reset
Netherton syndrome : Short broken hairs
Clinical image of Netherton syndrome
Copyright © 2019 VisualDx®. All rights reserved.