LIPOID PROTEINOSIS

Diagnosis: LIPOID PROTEINOSIS

Case submitted by Dr.Azeem Alam Khan to the dermRounds community.

Clinical Presentation

Clinical photograph(s) submitted for peer review and discussion.

Clinical History

Submitted by Dr.Azeem Alam Khan. Originally posted October 7, 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, dr.azeem alam khan