Conditions / Skin
Netherton syndrome
info · Skin
A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin.
Signs and symptoms
- Spongiosis
- Pustular rash
- Hearing impairment
- Aminoaciduria
- Malabsorption
- Recurrent lower respiratory tract infections
- Short stature
- Seborrheic dermatitis
- Caesarean section
- Psoriasiform acanthosis