Open AccessAltered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome
Author(s) -
Manigé Fartasch,
Mary L. Williams,
Peter M. Elias
Publication year - 1999
Publication title -
archives of dermatology
Language(s) - English
Resource type - Journals
eISSN - 1538-3652
pISSN - 0003-987X
DOI - 10.1001/archderm.135.7.823
Subject(s) - stratum corneum , lamellar granule , lamellar ichthyosis , pathology , psoriasis , skin biopsy , dermatology , hemidesmosome , medicine , biopsy , ichthyosis , anatomy , ultrastructure
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 NS develop progressive hypernatremic dehydration, failure to thrive, and enteropathy. Such complications can be fatal. Diagnosis is typically delayed until the appearance of a pathognomonic hair shaft anomaly, trichorrhexis invaginata (bamboo hair). To facilitate the early diagnosis of NS, we obtained biopsy specimens from 7 patients with erythrodermic NS and compared their morphologic findings to those of 3 patients with erythrodermic psoriasis and 2 with congenital ichthyosiform erythroderma. Biopsy specimens were processed for light and electron microscopy using postfixation with osmium tetroxide and ruthenium tetroxide.