[Hyalinosis cutis et mucosae of the ear-nose-throat].
Hyalinosis cutis et mucosae (HCM) is a rare autosomal recessive disease of unknown aetiology and pathogenesis. In the skin and mucous membranes there is characteristically a deposition of hyaline-like material in the papillary dermis, around the small blood vessels and around skin appendages. Besides the manifold skin lesions, the mucous membranes affected are found in the nasal and oral cavities, pharynx and larynx. The latter causes the most characteristic symptom, namely, hoarseness, from birth. The lesions of the vessel walls are the most significant histopathological alterations. Ultrastructurally, massive deposits of amorphous, hyaline-like material in the dermis, reduction in number and size of the collagen fibrils and, finally, thickening of the basal laminae could be observed. The findings suggest an abnormal production of noncollagenous proteins as well as the alteration of the lysosomal systems of fibroblasts, endothelial cells and pericytes in the pathogenesis of hyalinosis.
Kautzky
M
M
II. Universitäts-HNO-Klinik Wien.
Schenk
P
P
Bigenzahn
W
W
Rappersberger
K
K
Konrad
K
K
D000328:Adult; D001706:Biopsy; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D008064:Lipidoses / Q000473:pathology*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D009061:Mouth Mucosa / Q000473:pathology; D010038:Otorhinolaryngologic Diseases / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology*
Hyalinosis cutis et mucosae im Hals-Nasen-Ohren-Bereich.