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

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

Waxy, thickened, yellowish skin with multiple permanent, poxlike atrophic scarring on the forehead. Source: Dr. Alaa Saad MD (dermRounds Dermatology Member)

Clinical Presentation

Lipoid Proteinosis Waxy, thickened, yellowish skin with multiple permanent, poxlike atrophic scarring on the forehead. Source: Dr. Alaa Saad MD (dermRounds Dermatology Member)

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: case, dermatology, Lipoid Proteinosis, teaching file