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Netherton syndrome - Hair and Scalp
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Netherton syndrome - Hair and Scalp

See also in: Skin
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Contributors: Mary Gail Mercurio MD, Jeffrey D. Bernhard MD, Lowell A. Goldsmith MD, MPH
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.

For more information, see OMIM.

Codes

ICD10CM:
Q80.8 – Other congenital ichthyosis

SNOMEDCT:
312514006 – Netherton's syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Hair shaft abnormalities:
  • Trichorrhexis nodosa – also characterized clinically by nodes along the hair shaft, but this is a different defect that can be identified microscopically.
  • Monilethrix – also characterized clinically by nodes along the hair shaft, but this is a different defect that can be identified microscopically.

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Last Updated: 01/11/2018
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Netherton syndrome - Hair and Scalp
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Netherton syndrome : Short broken hairs
Clinical image of Netherton syndrome
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