Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation

Abstract

Background: Moniliform blepharosis is an ocular diagnostic feature of lipoid proteinosis, a rare autosomal recessive multisystem disorder with dermatological, otorhinolaryngological, ocular and neurological manifestations. Loss of function mutations in the extracellular matrix protein 1 (ECM1) gene have been identified as the causative factor, and their identification confirms the diagnosis. Until now, 41 different mutations have been described, the majority being nonsense and small insertions. Exon 6 and 7 are the most commonly involved.

Materials and methods: Case report of an 8-year-old girl who presented with bilateral waxy papular lesions on the margins of the upper and lower lids since the age of 2 years.

Results: Biopsy of the eyelid lesions showed replacement of the sub-epidermal space by pink, PAS-positive and diastase resistant hyalinized material. Genetic testing of theECM1 gene showed a homozygous nonsense mutation c.1441C > T (p.Arg481X) in exon 10, confirming the diagnosis of lipoid proteinosis.

Conclusions: Ophthalmologists may be the first physicians to encounter patients with lipoid proteinosis. The disease presents with protean symptoms, hence a careful examination with histopathology and genetic mutation analysis confirms the diagnosis, assisting in the counseling and management of patients.

• ECM1 gene
• eyelid tumors
• lipoid proteinosis
• moniliform blepharosis
• Urbach-Wiethe disease

Acknowledgements

The authors would like to thank Mr Najib Ahmed Siddiqi, Optometrist and member of the community ophthalmologist team at the Regional Institute of Ophthalmology, Sitapur, Uttar Pradesh, India for his valuable contribution in writing up this case.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

Notice of Correction:

The name of the third author has been corrected since the article's original online publication date of September 30, 2013.

Notes

* This paper was presented in the Ophthalmic Oncology session of the 28th Asia Pacific Ophthalmic Society in conjunction with the 71st All India Ophthalmic Society (APAO-AIOS) Congress, Hyderabad, India.