Hyalinosis cutis et mucosae in siblings.
Hyalinosis cutis et mucosae is a rare autosomal recessive disorder of unknown aetiology. Clinical features are hoarseness from early infancy and yellowish papules and plaques in mucous membranes and skin. Light and electron microscopy demonstrates accumulation of PAS-positive material around blood vessels and in the dermis. This substance probably derives from glycoproteins of basement membranes. Carbon dioxide laser surgery of thickened vocal cords proved to be effective for the treatment of hoarseness.
D002648:Child; D002675:Child, Preschool; D004727:Endothelium / Q000648:ultrastructure; D005260:Female; D006801:Humans; D006818:Hyalin; D008064:Lipidoses / Q000235:genetics*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D014059:Tongue / Q000473:pathology; D014827:Vocal Cords / Q000473:pathology