TLDR A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
The document from 2018 discusses a case of Hypotrichosis with Juvenile Macular Dystrophy (HJMD), a rare autosomal recessive disease characterized by hypotrichosis (abnormally sparse hair) and progressive macular degeneration leading to blindness within the first three decades of life. The disease is associated with mutations in the cadherin 3 (CDH3) gene, resulting in abnormal expression of P-cadherin. The case involved a 4-year-old female patient with abnormally short scalp hair and no other physical abnormalities. She also complained about photophobia (light sensitivity), and an ophthalmological consultation revealed pigmentary alterations in the fovea of both eyes. A genetic study confirmed a mutation in the CDH3 gene. The document emphasizes the importance of maintaining a high level of suspicion in cases of hypotrichosis for early diagnosis of HJMD, and the potential for future treatments with advances in stem cell and genetic therapies for retinal diseases.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
