Lipoid Proteinosis (moniliform blepharosis)

Diagnosis: Lipoid Proteinosis (moniliform blepharosis)

Row of beaded papules along the eyelid margins, resembling a string of pearls.

Clinical Presentation

Row of beaded papules along the eyelid margins, resembling a string of pearls.

Clinical History

Submitted by Alaa Saad. Originally posted March 11, 2011.

Treatment

See case discussion.

Differential Diagnosis

• Amyloidosis • Porphyria • Epidermolysis bullosa • Xanthoma • Colloid milium • Myxedema

Key Learnings

• Also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae • Rare autosomal recessive — ECM1 gene mutation • Classic: hoarse voice from birth (laryngeal infiltration), beaded eyelid papules (moniliform blepharosis) • Skin: waxy, yellowish papules and plaques; scarring from skin fragility • Bilateral temporal lobe calcification (amygdala) — pathognomonic on CT • Histology: PAS-positive, diastase-resistant hyaline material around blood vessels and in dermis

Tags: lipoid, proteinosis, moniliform, blepharosis, alaa saad