Total Hypotrichosis, Mari type is a rare congenital (passed from parents) disorder classified by the individual’s lack of hair growth from birth. The individual has little or absent hair on his or her scalp, eyebrows, eyelashes, arms, legs, and the rest of the body. In some cases, any hair that is present on the body or face may be woolly hair. This means the hair has extreme kinkiness and is wiry and twisted. There may be vesicles (fluid-filled sacs) on the scalp and other parts of the body. These vesicles may burst and erupt on a regular basis and release their fluid content.
Total Hypotrichosis, Mari type is inherited in an autosomal recessive pattern. This means both parents of the individual must pass down a changed (mutated) gene to their child in order for the child to have the condition. A person with one copy of the changed gene is a carrier of Total Hypotrichosis, Mari type. Carriers usually do not show symptoms of the condition. If both parents are carriers of Total Hypotrichosis, Mari type, there is a one in four (25%) chance that their children will have the condition.
Total Hypotrichosis, Mari type affects both men and women equally, though the hair patterns may differ by gender. This condition was originally discovered in the Volga-Ural region of Russia. If you or a family member has been diagnosed with Total Hypotrichosis, Mari type, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Feb 12, 2018