SNP Shot: Genomic Insights

Autosomal recessive hypotrichosis is a genetic disorder impacting hair development. Individuals affected by this condition exhibit thin or sparse hair (hypotrichosis) on their scalp from early infancy. This hair is typically rough, dry, and tightly coiled, often resembling wool. The scalp hair may also be unusually light in color, brittle, and prone to breakage. Individuals with this condition often find it difficult to grow their hair beyond a few inches in length. The eyebrows, eyelashes, and other body hair may also be sparse. The hair-related issues may persist at a consistent level or worsen over time, leading to complete scalp hair loss (alopecia) and reduced body hair.

In rare instances, individuals with autosomal recessive hypotrichosis may experience skin issues in areas where hair is sparse, including redness (erythema), itching (pruritus), or skin erosions on the scalp. They might also develop small bumps known as hyperkeratotic follicular papules around hair follicles, which are specialized skin structures responsible for hair growth, in regions with limited hair growth.

Inheritance:

The inheritance pattern of this condition is autosomal recessive, indicating that both copies of the responsible gene within each cell must carry mutations for the disorder to manifest. Typically, the parents of an affected individual each carry one copy of the mutated gene; however, they usually do not exhibit any signs or symptoms of the condition.