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12 Cards in this Set

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Clinical Lipoid Proteinosis/ Urbach-Wiethe disease;
Hyalinosis cutis et mucosae
Synonym
Urbach-Wiether disease; Hyalinosis cutis et mucosae
Inheritance
Autosomal recessive; extracellular matrix protein 1 (ECM1) gene on 1 q21
Prenatal
DNA analysis in future
Incidence
Over 280 cases reported increased in South Africa; M=F
Age at Presentataion
Birth (hoarse cry) to first few years of life
Pathogenesis
Mutation in ECMI correlated with phenotype; unknown cause
Clinical
Skin
Early
Bullae with residual atrophic scarring on face, neck and extremities
Late
Yellow papules, nodules on face, neck, extremities with eyelid "string of pearls”; Verrucous nodules of elbows, knees, and hands

Hair
Patchy alopecia in scalp, beard, eyelashes

Mucous Membranes
Infiltrative yellow papules and plaques on pharynx, lips, soft palate; with/without parotitis caused by stenotic parotid duct

Ear Nose Throat
Hoarse cry because of vocal cord infiltration
Large, wooden tongue

Central Nervous System
Temporal and hippocampal calcification with/without seizures
D/Dx
Amyloidosis; Erythropoietic protoporphyria (p. 224); Pseudoxanthorna elasticurn (p. 144); Xanthomas
Lab
Skin biopsy (PAS (+) hyaline material) Brain magnetic resonance imaging (MRI)
Management
Retinoids, oral dimethylsulphoxicle may be beneficial

Referral to ear nose throat special ist laser, surgical correction of vocal cords, tra¬cheostomy

Referral to dermatologist diagnosis, dermabrasion, chemical peel

Referral to neurologist if symptomatic
Prognosis
May progress to involve internal organs; however, chronic and benign course with normal life span; laryngeal involvement may lead to respiratory difficulties in childhood