Name: Netherton syndrome | Acronym: NS
Alt. names: Comel-Netherton syndrome | bamboo hair syndrome

Gene: SPINK5 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 3 | First reported in: 2000

Last updated on: 2023-02-28 16:41:18 by

OMIM: 256500

Orphanet: 634

MONDO: 0009735

DOID: 0050474

ClinGen:

Netherton syndrome is a rare and severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Generalized scaly erythroderma is apparent at or soon after birth and usually persists. Scalp hair is sparse and brittle with a characteristic 'bamboo' shape under light microscopic examination due to invagination of the distal part of the hair shaft to its proximal part. Atopic manifestations include eczema-like rashes, atopic dermatitis, pruritus, hay fever, angioedema, urticaria, high levels of IgE in the serum, and hypereosinophilia. Life-threatening complications are frequent during the neonatal period, including hypernatremic dehydration, hypothermia, extreme weight loss, bronchopneumonia, and sepsis. During childhood, failure to thrive is common as a result of malnutrition, metabolic disorders, chronic erythroderma, persistent cutaneous infections, or enteropathy (OMIM summary by Bitoun et al., 2002).

The condition may not always be readily recognizable. Recurrent bacterial infections are common, and prophylactic measures, as well as prompt and aggressive treatment of infections may be beneficial. Hypernatremic dehydration in the neonatal period can result in severe sequelae, and awareness may allow preventive measures and prompt medical management.