Netherton disease (Bamboo hair syndrome)
Incidence
autosomal recessive inheritance. Almost all cases female
Clinical Characteristics
Netherton's syndrome or ichthyosis with bamboo hair is an inherited dermatosis transmitted as an autosomal recessive trait with variable expression. It associates generalized ichthyosis linearis circumflexa, hair dysplasia and atopia in ¾ of cases. Hair is dry and brittle, alopecia is variable, eyelashes and brows may be sparse or lacking. The following signs occur very frequently: eczema, fine hair, ichthyosis, brittle hair, absent/decreased eyebrows,, sparse/absent scalp hair (generalized), mental retardation(degree not assessed). These signs occur frequently: emphysema/lung cyst, seizures ( any type), chronic inflammatory lung disease. These signs are occasionally seen: humoral immune deficit, megauretere/hydronephrosis, ectopic/horseshoe/fused kidneys, metabolism of aminoacids abnormal. Treatment consists in using emollients for ichthyosis and avoiding physical and chemical aggression of hair shafts. The infant with Netherton syndrome (NS) typically displays a generalized erythroderma covered by fine, translucent scales, which can be difficult to distinguish clinically from erythrodermic psoriasis, nonbullous congenital ichthyosiform erythroderma, or other infantile erythrodermas. Some infants with Netherton syndrome develop progressive hypernatremic dehydration, failure to thrive, and enteropathy. These complications can be fatal. Typically, diagnosis is delayed until the appearance of a pathognomonic hair shaft anomaly, trichorrhexis invaginata (bamboo hair).
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
It is a clinical diagnosis. Hypogammaglobulinemia