title: [Ophthalmic manifestations of lipoid proteinosis].
abstract: BACKGROUND
  Lipoid proteinosis (LP), also known as hyalinosis (or lipoidosis) cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is associated with deposits of protein-lipid complexes in various tissues including the skin and mucous membranes. Ophthalmologic manifestations are frequent and can affect visual prognosis.
  
  
  METHODS
  This 28-year-old patient presented vesiculobullous lesions of the face that developed into varioloid scars associated with hoarseness. Ophthalmologic examination revealed unilateral lesions including hyaline deposits on the palpebral margins, iris, and trabecular zone, complicated by uveitis, cataract, and glaucoma, which caused the functional loss of the left eye. Histological examination of a cutaneous biopsy confirmed the diagnosis.
  
  
  CONCLUSIONS
  Involvement of the eyelids is characteristic, and moniliform blepharosis is pathognomonic and frequent. This case featured a rare intraocular form (uveitis). Deposits may be found on the conjunctiva, cornea, trabecula and Bruch membrane. Conjunctival or cutaneous biopsy confirms the diagnosis. Available treatment is quite limited.
authors.affiliation: Service d'ophtalmologie, CHU, Sfax, Tunisie.
authors.forename: Dorra
authors.initials: D
authors.lastname: Sellami
authors.forename: Abderrahmen
authors.initials: A
authors.lastname: Masmoudi
authors.forename: Hamida
authors.initials: H
authors.lastname: Turki
authors.forename: Madiha
authors.initials: M
authors.lastname: Mseddi
authors.forename: Bourane
authors.initials: B
authors.lastname: Kammoun
authors.forename: Naila
authors.initials: N
authors.lastname: Elleuch
authors.forename: Fatma
authors.initials: F
authors.lastname: Chaabouni
authors.forename: Zeineb
authors.initials: Z
authors.lastname: Ben Zina
authors.forename: Jamel
authors.initials: J
authors.lastname: Feki
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Zahaf
mesh_terms: D000328:Adult; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D006685:Hoarseness / Q000209:etiology; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000175:diagnosis*; D012872:Skin Diseases, Vesiculobullous / Q000209:etiology