Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings

Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese

“…7 Serine protease inhibitor Kazal-type 5 (SPINK5) is responsible for Netherton syndrome, 8 a rare recessive skin disorder that is accompanied by atopy. 9 The SPINK5 gene comprises 33 exons and spans approximately 61 kb on human chromosome 5q32. SPINK5 is involved in regulation of proteolysis in epithelia formation and keratinocyte terminal differentiation, and some mutations in the SPINK5 gene cause defects in the skin barrier.…”

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article

“…Aminoaciduria occurs in a minority of the patients, with some question if this occurs secondary to use of topical or systemic steroids [23]. A peripheral eosinophilia is commonly found [28]. The serum IgE level is often elevated, sometimes to extreme levels [29].…”

“…The serum IgE level is often elevated, sometimes to extreme levels [29]. Positive skin tests or RAST responses to environmental and/or food allergens are commonly observed [28]. Skin biopsy specimens are generally nonspecific and not helpful for the diagnosis.…”

“…Histopathology often reveals changes resembling psoriasis with acanthosis, hypergranulosis, and occasionally spongiosis progressing to microvesiculation [29]. The hair shaft abnormality crucial for diagnosis of C-NS is the finding of trichorrhexis invaginata (bamboo hairs and ball and socket deformity) under light microscopy secondary to a defect of keratinization of the hair cortex [28]. Trichorrhexis nodosa and pili torti also occur [30].…”

Immunoglobulin E in primary immunodeficiency diseases

“…NS was first reported by Come`l in 1949 and Netherton in 1958 (126,127). NS is characterized by localized or generalized congenital ichthyosis with defective cornification, specific hair-shaft abnormalities (trichorrhexis invaginata or ''bamboo hair''), immune deficiency, hypereosinophilia, and markedly elevated IgE levels, the latter most likely responsible for severe IgE-mediated manifestations including AEDS and allergic rhinitis (128,129).…”