Lipoid Proteinosis (leonine facies)

Diagnosis: Lipoid Proteinosis (leonine facies)

Yellowish, waxy, thickened and furrowed skin due to dermal infiltration.

Clinical Presentation

Yellowish, waxy, thickened and furrowed skin due to dermal infiltration.

Clinical History

Submitted by Alaa Saad. Originally posted October 12, 2010.

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, leonine, facies, alaa saad