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GlossarySPINK5

gene encoding a protein that inhibits specific protein-degrading enzymes

SPINK5 stands for Serine Peptidase Inhibitor, Kazal Type 5. It is a gene that encodes a protein involved in inhibiting certain enzymes that break down proteins. Mutations in the SPINK5 gene can lead to Netherton syndrome, a condition characterized by skin abnormalities, hair defects, and a predisposition to allergies.

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research Office Diagnosis of Hair Shaft Defects

33 citations, March 2006 in “Seminars in cutaneous medicine and surgery”

The document explains how to identify different hair problems using a microscope.

research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

33 citations, June 2016 in “Pediatric Dermatology”

Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.

research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities

3 citations, September 2017 in “Archives of dermatological research”

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Severe Hypernatremia as Presentation of Netherton Syndrome

November 2023 in “Global Medical Genetics”

Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.

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