Netherton Syndrome

Congenital disorder that involves production of abnormal bamboo (brittle) hair (diagnostic marker) and associated with onychodystrophy, cataracts, mental retardation, skin sensitivity to light, and ichthyosis.

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Psoriasiform Ichthyosis; Trichothiodystrophy; Ichthyosis Linearis Circumflexa; Trichorrhexis Invaginata; Còmel-Netherton Syndrome.

Association between hair shaft bamboo node defects and ichthyosiform erythroderma was described by Albert Touraine, a French dermatologist, and Gabriel Solente, a French physician, in 1937. E.W. Netherton, an American physician, described a young girl with generalized scaly dermatitis in 1958.

Frequency is unknown; affects almost only females.

Most likely an autosomal recessive inherited inborn error of metabolism; most often occurs in females.

Microscopically, the hairs have a squashed oval shape in cross-section and irregular diameter, mostly caused by a reduction in the content of hair sulfur and cysteine. Studies suggest that the protein gene involved in xeroderma pigmentosum group D (XPD) protein gene can lead to trichothiodystrophy.

Generalized erythroderma and scaling present within the first week following birth.

Affected children present with erythroderma within 1 to 6 weeks of birth. Bamboo hair, atopic diathesis, congenital ichthyosiform erythroderma. Hypogammaglobulinemia. May be confused with atopic dermatitis but does not respond to topical corticosteroid treatment.

Evaluate the severity of hypogammaglobulinemia. Ensure that no topical steroids are used (risk of depression of the adrenocortical production of steroids and of perioperative addisonian-like crisis).

The high risk of infection as a result of immunodeficiency must be considered. Pay special attention to the skin when positioning and securing the intravenous access and monitoring devices. Temperature regulation management is essential intraoperatively. Fluid and electrolyte management must be very intensive because of excessive skin loss.

No medications are described as harmful. However, it is recommended to avoid thiopentone in the very severe bullous form.

Collodion Baby: Inherited syndrome apparent at birth and present throughout life. The newborn is born encased in a collodion membrane that sheds within 2 weeks, revealing generalized scaling with variable redness of the skin. The clinical consequences are frequently life-threatening sepsis and dehydration by protein and electrolyte loss.

X-Linked Ichthyosis (Steroid Sulfatase Deficiency Syndrome; Placental Steroid Sulfatase Deficiency Syndrome): Characterized by onset at birth. It is defined by striking scaling more prominent on the abdomen than on the back, with an extension of scaling down the front of the leg onto the dorsum of the foot. Histologically the epidermis is atrophic in ichthyosis vulgaris and hypertrophic in the X-linked variety.

Sjögren Larsson Syndrome (SLS): Rare inborn error of lipid metabolism, characterized by congenital ichthyosis, mental retardation, and spasticity.

Refsum Syndrome: Autosomal recessive genetic disorder characterized by accumulation of phytanic acid. The clinical manifestations appear around age 15 years and consist of hemeralopia (loss of vision in the dark), distal motor polyneuropathy, perceptive deafness, cerebellar ataxia, and severe mental retardation. Ichthyosis, polyepiphyseal dysplasia, myocardiopathy, elevated protein in cerebrospinal fluid, and retinitis pigmentosa may be present. Diagnosis is based on biologic evidence of phytanic acid in plasma and urine. Phytanic acid comes exclusively from food (green vegetables and herbivore animals).

Triglyceride Storage Disease (TSD) Type III: Rare hereditary disorder characterized by severe neonatal ichthyosis, myopathy, and presence of vacuoles filled with lipids.