Netherton syndrome

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Netherton syndrome2016-11-27T13:42:23+00:00

Netherton syndrome

DERMATOLOGY

An autosomal recessive genodermatosis (OMIM:256500) characterised by scaling of skin in a distinctive circular pattern–ichthyosis linearis circumflexa, occurring almost exclusively in women, associated with hair shaft abnormalities, immune defects, intermittent aminoaciduria, mental retardation and high postnatal mortality due to failure to thrive, infections and hypernatremic dehydration. It may resolve or improve in adolescence

Clinical findings Ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (so-called bamboo hair in which the hair shafts are inside the hair root), atopic diathesis (dermatitis, urticaria, allergies)

Pathogenesis Excess cornification of epidermis (ichthyosis), defective keratinisaton

Molecular pathology Defects of SPINK5, which may play a role in skin and hair morphogenesis, and have an anti-inflammatory effect, cause Netherton syndrome.

Synonyms Bamboo hair syndrome, Còmel-Netherton syndrome, disorder of cornification 9–Netherton type, erythroderma-atopy-bamboo hair syndrome, ichthyosiform erythroderma variant of Netherton, ichthyosis linearis circumflexa, Netherton disease 

References http://www.uniprot.org/uniprot/Q9NQ38

http://www.omim.org/entry/256500 

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