Autosomal Recessive HypotrichosisSymptoms, Doctors, Treatments, Advances & More
Learn About Autosomal Recessive Hypotrichosis
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.
M Health Fairview Discovery Pediatric Specialty Clinic
Maria Hordinsky is a Pediatrics specialist and a Dermatologist practicing medicine in Minneapolis, Minnesota. Dr. Hordinsky is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Hypotrichosis, Alopecia Areata, Graham-Little-Piccardi-Lassueur Syndrome, and Alopecia Universalis. Dr. Hordinsky is board certified in Dermatology: American Board Of Dermatology, 1980.
Office
Mario Lacouture is a Dermatologist practicing medicine in New York, New York. Dr. Lacouture is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Autosomal Recessive Hypotrichosis, Hartsfield Syndrome, Alopecia Areata, and Basal Cell Skin Cancer.
Antonella Tosti is a Dermatologist practicing medicine in Miami Beach, Florida. Dr. Tosti is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Hypotrichosis, Alopecia Areata, Splinter Hemorrhages, and Ringworm. Dr. Tosti is currently accepting new patients.
Summary: This research is being done to compare rates of hair loss of people with metastatic breast who use scalp cooling versus those who do not use scalp cooling after receiving standard of care treatment with either sacituzumab govitecan, trastuzumab deruxtecan, or eribulin. The name of the study intervention involved in this study is: * Paxman Scalp Cooling System
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, 2013
Published By: National Institutes of Health