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Ectopia cilia with pedigree analysis: Second case report in the world.

Tarang Goyal¹, Anupam Varshney², S K Bakshi³

¹Department of Dermatology, Venereology and Leprosy, Muzaffarnagar Medical College and Hospital, Muzaffarnagar, Uttar Pradesh, India.

Indian Journal of Human Genetics

|November 18, 2014

Summary

This report details a rare case of ectopic cilia, a condition where misplaced eyelashes grow on the eyelid. The study includes pedigree analysis, noting a familial link in this rare human condition.

Keywords:

Cilia incarnata dermoid cyst distichiasis ectopia cilia trichiasis

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Area of Science:

Ophthalmology
Medical Genetics

Background:

Ectopic cilia, characterized by misplaced eyelashes, is an exceptionally rare condition in humans.
Documented human cases of ectopic cilia are limited, with only 12 reported globally prior to this study.

Observation:

A 28-year-old male presented with ectopic cilia located on the outer third of his left upper eyelid.
The patient's maternal grandfather was also reported to have ectopic cilia affecting the left upper eyelid, suggesting a potential hereditary component.

Findings:

This case represents the second reported instance of ectopic cilia in humans that includes detailed pedigree analysis.
The familial occurrence highlights the importance of genetic factors in the etiology of ectopic cilia.

Implications:

This case contributes valuable data to the scarce literature on human ectopic cilia.
Further research into the genetic basis of ectopic cilia may aid in understanding and potentially managing this rare condition.