Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation.
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.


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.
Regional Institute of Ophthalmology and Sitapur Eye Hospital , Sitapur , India .
Pratyush
P
Ranjan
Deepak
D
Mishra
Thomas
T
Plesec
Vir B
VB
Pratap
Arun D
AD
Singh
D000293:Adolescent; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D018389:Codon, Nonsense; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins
ECM1 gene; Urbach-Wiethe disease; eyelid tumors; lipoid proteinosis; moniliform blepharosis