Hypotrichosis With Juvenile Macular Dystrophy

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.