Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
Autosomal recessive hypotrichosis can be caused by mutations in the LIPH, LPAR6, or DSG4 gene. These genes provide instructions for making proteins that are involved in the growth and division (proliferation) and maturation (differentiation) of cells within hair follicles. These cell processes are important for the normal development of hair follicles and for hair growth; as the cells in the hair follicle divide, the hair strand (shaft) is pushed upward and extends beyond the skin, causing the hair to grow. The proteins produced from the LIPH, LPAR6, and DSG4 genes are also found in the outermost layer of skin (the epidermis) and glands in the skin that produce a substance that protects the skin and hair (sebaceous glands).
The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Amy Mcmichael is a Dermatologist in Winston Salem, North Carolina. Mcmichael has been practicing medicine for over 33 years and is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Hypotrichosis. She is also highly rated in 35 other conditions, according to our data. Her top areas of expertise are Autosomal Recessive Hypotrichosis, Alopecia Areata, Graham-Little-Piccardi-Lassueur Syndrome, and GAPO Syndrome. Mcmichael is currently accepting new patients.
Maria Hordinsky is a Dermatologist in Minneapolis, Minnesota. Hordinsky has been practicing medicine for over 47 years and is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Hypotrichosis. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Autosomal Recessive Hypotrichosis, Alopecia Areata, Graham-Little-Piccardi-Lassueur Syndrome, and Dystrophic Epidermolysis Bullosa. Hordinsky is currently accepting new patients.
Rodney Sinclair practices in East Melbourne, Australia. Sinclair is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Hypotrichosis. He is also highly rated in 21 other conditions, according to our data. His top areas of expertise are Autosomal Recessive Hypotrichosis, Alopecia Areata, Lichen Planus, and Folliculitis.
Summary: Alopecia could be subdivided into two main groups of diseases: non-scarring alopecia, such as male pattern baldness, or alopecia areata (AA), in which hair follicles are preserved, yet quiescent, and scarring alopecia, also known as cicatricial alopecia (CA), in which hair follicles are irreversibly destroyed. CA leads to scarred areas, most commonly on the scalp, that cannot re-grow hair. Despite...
Summary: This is a prospective, randomized, double blind, placebo-controlled clinical trial. The study will take place at 4 sites. This trial will enroll a total of 68 patients with moderate to severe AA (affecting more than 50% of the scalp) at the time of screening with a targeted 54 subjects completers through Week 48. AA subjects must have evidence of hair regrowth within the last 7 years of their last...
Published Date: April 01, 2013Published By: National Institutes of Health