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Netherton syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 05.07.2025
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The combination of ichthyosis - ichthyosis-form congenital erythroderma (lamellar ichthyosis) with hair damage of the nodular trichorrhexis type in combination with atopy was first described by E. V. Netherton (1958).
What causes Netherton syndrome?
Previously, it was believed that the disease was contagious. Currently, an autosomal recessive type of inheritance is assumed. Mostly women are affected.
Histopathology
Characteristic features include proliferative hyperkeratosis (sometimes with parakeratosis), acanthosis with spongiosis, normal or thickened granular layer, hypertrophy of dermal papillae, enlargement of sebaceous and sweat glands, edema, and moderate chronic inflammatory perivascular infiltrates in the upper dermis, consisting of lymphocytes and plasma cells.
Symptoms of Netherton syndrome
At birth, the skin of the fetus is completely covered with a dry yellowish-brown film resembling collodion. In the literature, the description of a "colloidal" fetus (syn. "glossy child") is one of the severe manifestations of the disease. In some cases, the collodion film, having existed for some time, turns into large scales (lamellar desquamation of newborns) and completely disappears in early infancy, the skin remains normal throughout life. In most cases, the scales formed from the film remain on the skin for life (lamellar ichthyosis).
With age, erythroderma regresses, and hyperkeratosis intensifies. The lesion affects all skin folds, and skin changes in them are often more pronounced. Facial skin is usually red, taut, and flaky.
The scalp is covered with abundant scales, the auricles are twisted, with abundant horny deposits, including in the auditory canals. Increased sweating of the skin of the palms, soles, and face is observed, and rapid growth of hair and nails is noted (hyperdermotogophia).
The nail plates are deformed and thickened; subungual hyperkeratosis and diffuse keratosis of the palms and soles are observed. A characteristic symptom of lamellar ichthyosis is also ectropion, which is often accompanied by lagophthalmos, keratitis, and photophobia. Sometimes mental retardation is observed with lamellar ichthyosis.
Structural hair abnormalities in Netherton syndrome can be of different types: twisted hair; invaginating trichorrhexis - transverse ruptures of hair with the proximal segment being driven into the distal one; nodular trichorrhexis - structural deformation of hair with the formation of knots like thickenings on bamboo rods. Changes in hair thickness are observed in Netherton syndrome as a combination of lamellar ichthyosis with splitting of the hair shaft due to damage to the cuticle on 3-10 branches (trichoptilosis), while the hair does not reach a length of more than 5 cm. The most common hair pathology in Netherton syndrome is trichorrhexis (nodular or invaginating). As a result of dystrophic changes in hair, focal or subtotal alopecia may develop.
What's bothering you?
How to recognize Netherton syndrome?
Netherton syndrome is differentiated from desquamative erythroderma of Leiner-Moussou, psoriatic erythroderma, Ritter's exfoliative dermatitis, and bullous epidermolysis.
What do need to examine?
How to examine?
Treatment of Netherton syndrome
Treatment measures are carried out as for ichthyosis.