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.
Bellin Memorial Hospital Inc
Jennifer Cunningham is an Endocrinologist in Green Bay, Wisconsin. Dr. Cunningham and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. Her top areas of expertise are Type 2 Diabetes (T2D), Osteoporosis, Postmenopausal Osteoporosis, and Obesity in Children. Dr. Cunningham is currently accepting new patients.
Bellin Memorial Hospital Inc
Cynthia Lasecki is a Family Medicine provider in Green Bay, Wisconsin. Dr. Lasecki and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. Her top areas of expertise are Autosomal Recessive Hypotrichosis, Alopecia Areata, Cirrhosis, and Arrhythmogenic Right Ventricular Cardiomyopathy. Dr. Lasecki is currently accepting new patients.
Apogee Medical Group Wisconsin Sc
William Wittman is a Family Medicine specialist and an Internal Medicine provider in Green Bay, Wisconsin. Dr. Wittman and is rated as an Experienced provider by MediFind in the treatment of Autosomal Recessive Hypotrichosis. His top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Hypothyroidism, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Wittman is currently accepting new patients.
Summary: The purpose of this study is to evaluate hairstyling techniques aimed at increasing efficacy of scalp cooling in the prevention of chemotherapy-induced alopecia, determine scalp cooling effect on persistent chemotherapy-induced alopecia, and elucidate molecular mechanisms and predictive biomarkers associated with scalp cooling success in patients with skin of color receiving chemotherapy for breas...
Summary: Alopecia areata (AA) is a disease that happens when the immune system attacks hair follicles and causes hair loss. AA usually affects the head and face, but hair loss can happen on any part of the body. The purpose of this study is to assess how safe, effective, and tolerable upadacitinib is in adolescent and adult participants with severe AA. Upadacitinib is an approved drug being investigated fo...
Published Date: April 01, 2013
Published By: National Institutes of Health