a 32-year - old male came to us with complaints of cystic lesions in both lids [ figs . 1 , 2a and b ] .
he was diagnosed to have lipoid proteinosis elsewhere and was completely screened for systemic involvement .
a buccal mucosal biopsy taken elsewhere showed deposition of pas - positive hyaline material [ fig . 3 ] .
there were verrucous lesions in both upper and lower lids with cauliflower shaped lesion in the lower puncta of both eyes .
. external photograph of the eye external photograph closer view ( a ) upper lid ( b ) lower lid histopathology picture depicting pas positive hyaline material
uws is an autosomal recessive disorder , first described by urbach and wiethe in 1929 .
the incidence of hyalinosis cutis et mucosae seems to be fairly high in south africa .
it is a multi - system disease caused due to mutations in the gene encoding extracellular matrix protein 1 on chromosome 1q21 .
skin lesions generally appear as nodules on the face , lips ( at earlier stages ) , and later become hyperkeratotic .
schirmer 's test in both eyes was normal suggesting no involvement of lacrimal gland in our case .
various ocular manifestations such as dry eyes , open angle glaucoma , drusen in the macula , retinitis pigmentosa , uveitis and subluxation of the lens has been reported along with lipoid proteinosis . however , our patient had no abnormality in his eyes .
the most common radiological hallmark is the presence of bean or comma shaped intracranial calcifications in the temporal lobes in the amygdala , which is more evident in the patients who have lipoid proteinosis for a long duration .
patients with neurological manifestations present with a migraine , seizures , mental retardation , anxiety , depression , and panic attacks .
though rare , systemic manifestations of lipoid proteinosis include life - threatening situations like acute respiratory distress or seizures . awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients .
 urbach  wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid schiff - positive hyaline material in the skin , upper aerodigestive tract , eyelids , and internal organs . 
 classical clinical features include scarring of the skin , beaded eyelid papules ( moniliform blepharosis ) and laryngeal infiltration leading to hoarseness of voice . 
 lipoid proteinosis can lead to life - threatening conditions such as acute respiratory distress and seizures . 
 awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients . 
Case Report
Discussion
Conclusion
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