Lipoid Proteinosis - A Rarity in An Adult
Keywords:Amyloidosis, Autosomal recessive, Genodermatosis, Lipoid Proteinosis, Moniliform blepharosis.
Background: Lipoid proteinosis is a rare genodermatosis with autosomal recessive inheritance. It is
a multisystem disorder characterized by progressive deposition of hyaline material in the skin, mucous
membrane and different organs of the body. The disease is presented by dermatological, laryngeal,
ophthalmological, and neurological manifestations. Involvement of oral mucosa may lead to xerostomia and
dysphagia; involvement of larynx and eyes results in hoarseness of voice at early infancy and moniliform
blepharosis. Extracutaneous involvement includes neurological manifestations like psychosis, partial
complex seizures, anger, panic attacks, and progressive amnesia. Till date around 300 cases have been
reported in literature.
Case Report: A 63 years old male patient reported with chief complaints of pain in the right and left cheek
region, difficulty in swallowing food and dryness of mouth.
Conclusion: Lipoid Proteinosis requires multidisciplinary opinion and evaluation by dermatologists,
ophthalmologists, otolaryngologists, neurologists and psychiatrist. Clinical features and histopathological
evaluation aids in the confirmation of the disease. Lipoid proteinosis should be considered one among the
differential diagnosis when patient reports with difficulty in mouth opening, enlarged tongue, difficult in
chewing and swallowing.
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