TLDR The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
The document detailed the clinical progression of Marie Unna hereditary hypotrichosis (MUHH) in the first Japanese family diagnosed with the condition, focusing on a female patient who exhibited hair loss at age two but showed improvement by age seven. The patient and her father both had a heterozygous missense mutation, c.38G>T (p.Arg13Leu), in the U2HR gene. The father had mildly sparse hair and eyebrows. This case highlighted the potential for misdiagnosis of MUHH as androgenetic alopecia or alopecia areata universalis/totalis, underscoring the importance of considering MUHH in differential diagnoses. The study provided the first long-term follow-up of a Japanese patient with MUHH and noted an improvement in hair condition during childhood without reporting any financial support or conflicts of interest.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
