title: Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review of the literature.
abstract: Lipoid proteinosis (LP) or Urbach-Wiethe disease is a recessively inherited disorder not usually seen by ophthalmologists. It is characterized by non-inflammatory, persistent papules on the skin and mucous membranes. The first clinical manifestation of LP is usually progressive hoarseness. The lid lesions, consisting of beaded papules along the lid margins (moniliform blepharosis), are considered almost pathognomonic of the disease. The interesting clinical and histopathological features of LP are described in a 45-year-old man with a history of lipoid proteinosis, who presented to us for evaluation of ocular discomfort and unusual multiple eyelid lesions. We surgically removed all the eyelid lesions. The histologic findings were consistent with LP. Knowledge of the typical eyelid lesions may help to diagnose many typical or atypical cases of LP, although biopsy confirmation is always necessary. In our experience, the surgical removal of the eyelid lesions seems to be curative and due to the amount of eyelid lesions that can be developed, it is recommended to initiate an early treatment as soon as possible to avoid postoperative deformities.
authors.affiliation: Department of Ophthalmology, Oculoplastic Service, Hospital Universitari Sagrat Cor, Barcelona. miquelcallizo@yahoo.es
authors.forename: Miquel
authors.initials: M
authors.lastname: Callizo
authors.forename: Núria
authors.initials: N
authors.lastname: Ibáñez-Flores
authors.forename: Jessica
authors.initials: J
authors.lastname: Laue
authors.forename: Vanesa
authors.initials: V
authors.lastname: Cuadrado
authors.forename: Xavier
authors.initials: X
authors.lastname: Graell
authors.forename: Josep Maria
authors.initials: JM
authors.lastname: Sancho
mesh_terms: D001707:Biopsy, Needle; D005141:Eyelid Diseases / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery*; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D053685:Laser Therapy / Q000379:methods; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome