Genetic Test
The NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like) gene encodes an enzyme located in the endoplasmic reticulum that is involved in the biosynthesis of cholesterol.
This enzyme plays a key role in lipid metabolism, and mutations in the NSDHL gene can disrupt normal cholesterol production and broadly affect lipid homeostasis.
Such disruptions can interfere with cellular membrane structure and skin development.
This genetic test targets two specific mutations in the NSDHL gene associated with verrucous epidermal nevus, a skin disorder characterized by wart-like, hyperpigmented lesions resulting from epidermal overgrowth.
Disease Description
Verrucous epidermal nevus is a skin condition characterized by wart-like growths on the skin or mucous membranes, caused by hyperplasia (overgrowth) of the epidermis.
These lesions often exhibit pigment accumulation and may form plaques or papillomatous structures.
The appearance can vary widely—some lesions may look like small bumps (papules), warty nodules, or scaly patches, depending on their location and severity.
