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A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
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Hypotrichosis with Juvenile Macular Dystrophy.

Filipa Tavares Almeida1, Rui Carneiro-Freitas2, Regina Caldas1

  • 1Department of Dermatovenereology, Hospital de Braga, Braga, Portugal.

International Journal of Trichology
|January 5, 2019
PubMed
Summary

Hypotrichosis with juvenile macular dystrophy is a rare genetic disorder causing hair loss and vision loss. This case report details a 4-year-old patient diagnosed with this condition, linked to cadherin 3 gene mutations.

Keywords:
BlindnessP-cadherinhypotrichosis with juvenile macular dystrophytrichoscopy

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Area of Science:

  • Ophthalmology
  • Genetics
  • Dermatology

Background:

  • Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive genodermatosis.
  • It presents with hypotrichosis and progressive macular degeneration, potentially causing blindness within the first 30 years of life.

Observation:

  • A 4-year-old female patient was diagnosed with hypotrichosis with juvenile macular dystrophy.
  • The diagnosis was based on clinical presentation and genetic analysis.

Findings:

  • The disease is associated with mutations in the cadherin 3 gene.
  • These mutations lead to abnormal expression of P-cadherin, a key cell adhesion molecule.

Implications:

  • Understanding the genetic basis of this disorder is crucial for diagnosis and potential therapeutic strategies.
  • This case highlights the importance of early diagnosis for managing progressive vision loss.