A 17-year-old Egyptian patient presented to the dermatology clinic of Al-Ain Hospital with a complaints of pruritic dry skin and short brittle hair since early infancy. The patient was born to ...

JAAD Case Rep 2017; 3: 550-2. 43. Dezman K, Korosec P, Rupnik H, Rijavec M. SPINK5 is associated with early-onset and CHI3L1 with late-onset atopic dermatitis. Int J Immunogenet 2017; 44: 212-8. 44.

Caused by mutations in the SPINK5 gene, it leads to breakdown of the skin's protective barrier, leaving infants vulnerable to dehydration, infections, and chronic inflammation. Alongside these ...

Netherton Syndrome, a form of Ichthyosis, is a rare hereditary skin disorder caused by a mutation in the SPINK5 gene (serine protease inhibitor, Kazal Type 5) that leads to severe skin barrier ...

Netherton Syndrome, a form of Ichthyosis, is a rare hereditary skin disorder caused by a mutation in the SPINK5 gene (serine protease inhibitor, Kazal Type 5) that leads to severe skin barrier defects ...

Methods: We collect cases from our clinic and relevant literature. After rigorous screening, we included 162 patients with NS-associated symptoms and SPINK5 mutations. We characterized the ...

QRX003, a novel topical treatment, is being evaluated in multiple ongoing studies for its potential to treat Netherton Syndrome, a rare and severe skin disorder caused by a mutation in the SPINK5 ...

Quoin Pharmaceuticals Ltd. announced positive interim clinical data from an ongoing study of QRX003 for Netherton Syndrome, highlighting significant improvements in skin condition and patient ...

It occurs due to mutations or changes in the SPINK5 gene, which is important for maintaining healthy skin and hair. Having Netherton syndrome puts someone at greater risk of developing allergies ...

The gene implicated in the disease is the serine protease inhibitor Kazal Type 5 (SPINK5) which produces a protein called lympho-epithelial Kazal-type-related inhibitor (LEKTI). The protein ...

Netherton syndrome (NS) is a rare genetic disease caused by loss of functional lympho-epithelial Kazal-type-related inhibitor (LEKTI, SPINK5). Since LEKTI is a natural inhibitor of kallikrein-5 (KLK5) ...