Autosomal Recessive Hypotrichosis Overview
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.
Saint Joseph Regional Medical Center Inc
Janet Galanes is a Family Medicine provider in Mishawaka, Indiana. Dr. Galanes and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. Her top areas of expertise are Sitosterolemia, Macroamylasemia, Progressive Hemifacial Atrophy, and Hypertension. Dr. Galanes is currently accepting new patients.
The South Bend Clinic LLC
Steven Crowell is an Internal Medicine provider in South Bend, Indiana. Dr. Crowell and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. His top areas of expertise are Cold Urticaria, Familial Hypertension, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Crowell is currently accepting new patients.
Elkhart Clinic,llc
Carolyn Hudson is an Internal Medicine provider in Elkhart, Indiana. Dr. Hudson and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. Her top areas of expertise are Infantile-Onset Spinocerebellar Ataxia (IOSCA), Spastic Ataxia Charlevoix-Saguenay Type, Spinocerebellar Ataxia Type 28, and Behr Syndrome. Dr. Hudson is currently accepting new patients.
Summary: The main purpose of this study is to determine the efficacy and safety of baricitinib for the treatment of severe or very severe alopecia areata (hair loss) in children from 6 years to less than 18 years of age. The study is divided into 4 periods, a 5-week Screening period, a 36-week Double-Blind Treatment Period, an approximately 2-year Long-term Extension Period, and a 4-week Post-treatment Fol...
Summary: This clinical study is designed to evaluate the efficacy and safety of a dietary supplement CL-P24113a for the management of androgenetic alopecia (AGA) in male subjects aged 18 to 45 years who suffer from alopecia with low hair density, classified as mild to moderate (Hamilton-Norwood stages II, III, and IV). The product is a formulation based on a blend of botanical ingredients and other well-es...
Published Date: April 01, 2013
Published By: National Institutes of Health