Netherton syndrome - Skin
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.
Q80.8 – Other congenital ichthyosis
312514006 – Netherton's syndrome
- Acrodermatitis enteropathica
- Psoriasis, congenital
- Seborrheic dermatitis, infantile severe
- Epidermolytic ichthyosis
- Congenital ichthyosiform erythroderma
- Erythrokeratodermia variabilis
- Omenn syndrome (severe combined immune deficiency, severe infections, erythroderma, hypereosinophilia, hepatosplenomegaly, lymphadenopathy, protracted diarrhea, hypogammaglobulinemia, and elevated serum IgE)
- Hyper-IgE syndrome
- Peeling skin syndrome