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Updated: Dec 9, 2025
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hereditary Palpebro-Gingival Fibrosis Syndrome
Stefany Acosta1,2, David B Lyon3, Frederick A Jakobiec4
1San Diego Eyelid Specialists, Encinitas, California, U.S.A.
Ophthalmic Plastic and Reconstructive Surgery
|September 5, 2020
Summary
A rare genetic disorder presents unique eyelid and gingival findings in three siblings. Further research is needed to identify the genetic cause and aid affected families.
Area of Science:
- Ophthalmology
- Genetics
- Pathology
Background:
- A case report details a unique clinical phenotype in three siblings from a consanguineous Syrian family.
- The condition affects siblings with no prior familial history, suggesting a novel genetic etiology.
Observation:
- The affected siblings, aged 22, 21, and 3, presented with distinct eyelid and gingival findings.
- Ophthalmic pathology of eyelid biopsies revealed generalized fibrosis without active inflammation or amyloid deposition.
Findings:
- Three out of nine siblings were affected by this previously uncharacterized disorder.
- The observed eyelid and gingival abnormalities represent a unique clinical presentation.
Implications:
- Ophthalmic plastic surgeons should be aware of this new clinical entity.
- Genetic localization and identification are crucial for understanding and managing this disorder in affected families.
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