Moniliform blepharosis: A characteristic sign of lipoid proteinosis
Indian Journal of Dermatology, Venereology and Leprology, 2021 Anupam Das, Suneil Gandhi
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Familial Moniliform Blepharosis: Clinical, Histopathological and Genetic Correlation
Ophthalmic Genetics, 2013 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 ...
Abtahi SM +8 more
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Moniliform blepharosis in lipoid proteinosis: A rare case
Indian Journal of Ophthalmology - Case Reports, 2023 Lipoid proteinosis (LP) is a rare multisystem disease characterized by the accumulation of amorphous hyaline-like materials in the skin, mucous membranes, and brain. The ocular finding is the presence of papular lesions on the eyelids, which is pathognomonic and is called moniliform blepharosis.
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Lipoid proteinosis: a rare encounter in dental office. [PDF]
Case Rep Dent, 2015 Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far.
Deshpande P +5 more
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Lipoid proteinosis in a six-year-old child
Indian Dermatology Online Journal, 2012 Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21.
Surajit Nayak, Basanti Acharjya
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Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. [PDF]
Diagn Pathol, 2011 Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome ...
Nasir M +5 more
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Lipoid proteinosis: Unfamiliar skin findings delay diagnosis. [PDF]
JAAD Case Rep, 2018 Lipoid proteinosis (LP) is a rare, inherited condition that progresses gradually with multisystemic manifestations. Histopathologic characteristics can be understated, delaying the diagnosis if a high degree of suspicion is not ...
Larkin S +5 more
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Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis. [PDF]
Indian J Med Res, 2016 Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis).
Izadi F +6 more
europepmc +4 more sources
What's in a Voice? Deciphering Clue in a Case of Facial Varioliform Scars in a Young Girl [PDF]
Dermatology Practical & ConceptualSrishti Dabas +5 more
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Moniliform Blepharosis of Lipoid Proteinosis
JAMA Ophthalmology, 2015 Alaa Alkhotani +2 more
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