Lipoid Proteinosis (hyalinosis cutis et mucosae or Urbach-Wiethe disease)

Diagnosis: Lipoid Proteinosis (hyalinosis cutis et mucosae or Urbach-Wiethe disease)

Permanent, poxlike atrophic scarring and hemorrhagic crusts with infiltrated and indurated lip and tongue.

Clinical Presentation

Permanent, poxlike atrophic scarring and hemorrhagic crusts with infiltrated and indurated lip and tongue.

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, hyalinosis, cutis, mucosae, urbach, wiethe, disease, alaa saad