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12 Cards in this Set
- Front
- Back
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Clinical Lipoid Proteinosis/ Urbach-Wiethe disease;
Hyalinosis cutis et mucosae |
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Synonym
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Urbach-Wiether disease; Hyalinosis cutis et mucosae
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Inheritance
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Autosomal recessive; extracellular matrix protein 1 (ECM1) gene on 1 q21
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Prenatal
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DNA analysis in future
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Incidence
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Over 280 cases reported increased in South Africa; M=F
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Age at Presentataion
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Birth (hoarse cry) to first few years of life
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Pathogenesis
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Mutation in ECMI correlated with phenotype; unknown cause
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Clinical
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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 |
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D/Dx
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Amyloidosis; Erythropoietic protoporphyria (p. 224); Pseudoxanthorna elasticurn (p. 144); Xanthomas
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Lab
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Skin biopsy (PAS (+) hyaline material) Brain magnetic resonance imaging (MRI)
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Management
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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 |
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Prognosis
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May progress to involve internal organs; however, chronic and benign course with normal life span; laryngeal involvement may lead to respiratory difficulties in childhood
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