Lipoid Proteinosis (moniliform blepharosis)

Diagnosis: Lipoid Proteinosis (moniliform blepharosis)

Source: Dr. Alaa Saad (submitted to dermRounds)

Clinical Presentation

Source: Dr. Alaa Saad (submitted to dermRounds)

Clinical History

Hoarse voice since infancy. Waxy skin papules. Beaded papules on eyelid margins (moniliform blepharosis). Scarring. Family consanguinity.

Treatment

No curative treatment. Supportive care. CO2 laser for vocal cord thickening. Oral retinoids may improve skin findings. Dermatologic surveillance.

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: dermatology, kodachrome, Lipoid Proteinosis (moniliform blepharosis)