Netherton's syndrome

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Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after

  • incidence is estimated to be 1/200,000

  • this syndrome is as common as nonbullous ichthysosiform erythroderma

  • this condition presents with congenital erythroderma, and later a recurrent migrating scaling

  • this condition has a distinctive hair shaft defect and results in fragile, sparse hair; also food-induced angioedema occurs

  • characteristically the infant presents with failure to thrive; however this condition still may diagnosed late in many cases

  • other common features of the disease are enteropathy, hypoalbuminemia, aminoaciduria, mental retardation, growth retardation, and immunologic abnormalities

  • NS is associated with a characteristic hair shaft abnormality known as 'bamboo hair' (trichorrhexis invaginata)(1,2)

  • serum level of IgE is markedly elevated

  • treatment is symptomatic such as topical emollients, keratolytics, tretinoin and corticosteroids, alone or in combination. PUVA therapy has produced variable results

Reference:

  • Judge MR, Morgan G, Harper JI. A clinical and immunological study of Netherton's syndrome. Br J Dermatol 1994;121: 615-21.
  • Sun JD, Linden KG. Netherton syndrome: A case report and review of the literature. Int J Dermatol. 2006;45:693-7
  • Suhaila O, Muzhirah A. Netherton Syndrome: A Case Report. Malaysian J Pediatr Child Health (MJPCH) 2010;16(2):26
  • Thanawinnanont O, Samutrapong P. Netherton syndrome: a case report and review of the literature. Thai J Dermatol. 2008;24:208-12.
  • Saif GB, Al-Khenaizan S. Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. Int J Dermatol. 2007;46(3):290-4-7.

Last reviewed 01/2018

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