Search

everythingexperts & clinicslearnresearchcommunity

for

Search:↓

rare genetic disorder causing skin inflammation and brittle hair

Netherton Syndrome is a rare genetic disorder characterized by chronic skin inflammation, a distinctive hair shaft abnormality called trichorrhexis invaginata (bamboo hair), and a predisposition to allergies and infections. It is caused by mutations in the SPINK5 gene, which affects the skin's barrier function, leading to symptoms like red, scaly skin and brittle hair.

Related Terms

• Clouston Syndrome
• Trichorrhexis Invaginata
• Hypohidrotic Ectodermal Dysplasia
• Gorlin Syndrome
• Trichorhinophalangeal Syndrome
• KID Syndrome
• Menkes Disease
• Hereditary Hypotrichosis Simplex