Autosomal recessive disease
Synopsis
failure to thrive
sparse eyebrows
asthma
enteropathy with villous atrophy
cutaneous anomalies
- ’bamboo hair’ (trichorrhexis nodosa, or, because of the nodes, trichorrhexis invaginata)
- congenital ichthyosiform erythroderma
- atopic diathesis
- generalized erythroderma
- ichthyosis linearis circumflexa
- congenital lamellar ichthyosis
- urticaria
- sparse, brittle scalp hair
- sparse eyebrows
angioedema
developmental delay
hypernatremic dehydration
hypereosinophilia
Etiology
germline mutations in the SPINK5 gene (MIM.605010) encoding the serine protease inhibitor LEKTI (Kazal type, 5)
See also