1.
Ned Tijdschr Geneeskd
; 146(23): 1087-90, 2002 Jun 08.
Article
in Dutch
| MEDLINE
| ID: mdl-12085559
ABSTRACT
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.
Subject(s)
Ichthyosiform Erythroderma, Congenital/diagnosis , Child, Preschool , Female , Filaggrin Proteins , Hair/pathology , Humans , Hypersensitivity, Immediate/congenital , Ichthyosiform Erythroderma, Congenital/diet therapy , Ichthyosiform Erythroderma, Congenital/therapy , Infant , Intermediate Filament Proteins , Skin/pathology , Skin Abnormalities , Syndrome
2.
Arch Dis Child
; 66(4): 560-1, 1991 Apr.
Article
in English
| MEDLINE
| ID: mdl-1674414