Netherton's syndrome

Last reviewed 01/2018

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.