Netherton syndrome


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Neth·er·ton syn·drome

(neth'ĕr-tŏn), [MIM*256500]
congenital ichthyosiform erythroderma or ichthyosis linearis circumscripta associated with bamboo hair, atopy, urticaria, intermittent aminoaciduria, and mental retardation; probably an autosomal recessive trait that frequently resolves or improves in adolescence.

Netherton syndrome

Atopic diathesis, trichorrhexis invaginata, trichorrhexis nodosa Dermatology A rare skin disorder occurring almost exclusively in ♀, characterized by scaling in a circular pattern–ichthyosis linearis circumflexa Clinical Hair shafts held inside root–trichorrhexis invaginata; hair fragility "bamboo hair", allergies such as asthma, or food allergies that cause skin eruptions Pathogenesis Excess cornification of epidermis. See Bamboo hair.

Neth·er·ton syn·drome

(neth'ĕr-tŏn sin'drōm)
Congenital ichthyosiform erythroderma or ichthyosis linearis circumscripta associated with bamboo hair, atopy, urticaria, intermittent aminoaciduria, and mental retardation; probably an autosomal recessive trait; frequently resolves or improves in adolescence.

Comèl,

M., Italian dermatologist and angiologist, 1902-1995.
Comèl-Netherton syndrome - Synonym(s): Netherton syndrome
Rille-Comèl disease - see under Rille

Netherton,

Earl Weldon, U.S. dermatologist, 1893–.
Comèl-Netherton syndrome - Synonym(s): Netherton syndrome
Netherton syndrome - brittle hair; atopic manifestations. Synonym(s): Comèl-Netherton syndrome; congenital ichthyosiform erythroderma
References in periodicals archive ?
Netherton Syndrome is a severe autosomal recessive disease characterized by congenital erythroderma, bamboo hair and abnormality in the immune system.
Though the exact prevalence of Netherton Syndrome is not well documented, it has a reported prevalence of 1-9 per 1,000,000.
Netherton Syndrome is a rare condition with an estimated prevalence of 1-9 per 1m.
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Netherton syndrome is caused by germline mutations in the serine protease inhibitor of Kazal type 5 (SPINK5) gene located on chromosome 5q31-32 [2].
Clinically, Netherton syndrome is characterized by the triad of congenital ichthyosiform erythroderma/ichthyosis linearis circumflexa, trichorrhexis invaginata ("bamboo hair" or "ball and socket" hair shaft deformity), and an atopic diathesis [5, 6].
Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 2006;126:1622-32.
Netherton Syndrome is a severe autosomal recessive disease characterized by congenital erythroderma, "bamboo hair" and abnormality in the immune system.
- The Food and Drug Administration granted orphan drug designation to LM-030, an investigational therapy licensed from Swiss drugmaker Novartis (NYSE: NVS) and ready to enter into pivotal clinical trials for the treatment of Netherton Syndrome, US-based rare disease specialist LifeMax Laboratories, Inc.
Their son Jack suffers from Netherton Syndrome and the money has been given to help research into the rare, painful skin condition - with the ultimate aim of finding a cure.
Danny Oldacres & Friends (Netherton Syndrome Support).