[Netherton's syndrome in two sisters].
Two girls, sisters aged 4.5 years and 6 months, had experienced serious erythrodermia since birth, with scarcely any hair growth and they exhibited poor growth despite a hypoallergenic diet. On the basis of the dermatological condition ichthyosis linearis circumflexa and microscopic examination of a hair shaft in which trichorrhexis invaginata (bamboo hair) was observed, the diagnosis of Netherton's syndrome was established. In this autosomal recessive hereditary condition there is a defective production or maintenance of the stratum corneum. Apart from the skin and the hair abnormalities there is often an atopic constitution as well. The treatment consists of skin ointments and a high-energy diet due to the loss of protein via the skin.
van Furth
A M
AM
Afd. Kindergeneeskunde, Vrije Universiteit Medisch Centrum, Postbus 7057, 1007 MB Amsterdam. am.vfurth@vumc.nl
Boontje
R P
RP
Louwers
M J
MJ
Canninga-van Dijk
M R
MR
Stoof
T J
TJ
D002675:Child, Preschool; D005260:Female; D000091344:Filaggrin Proteins; D006197:Hair / Q000473:pathology; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000151:congenital; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis* / Q000178:diet therapy / Q000628:therapy; D007223:Infant; D007381:Intermediate Filament Proteins; D012867:Skin / Q000473:pathology; D012868:Skin Abnormalities; D013577:Syndrome
D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins