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Hyalinosis Cutis et Mucosae

Very rare, recessively inherited disorder characterized by the deposition of hyaline material (lipoid protein) in the skin, mucous membranes and internal organs. Skin changes frequently become prominent in early life with the development of yellow-white or flesh-coloured papules or nodules appearing on the face and lips. Small nodules are sometimes present on the finger joints, in the axillae and on the elbows, knees and scrotum. Later the colour of the skin darkens and the lesions become hyperkeratotic or warty. The mucosae of the pharynx and tongue soon develop firm yellow-white infiltrates. Hoarseness develops in early childhood due to hyaline deposits in the larynx. Widespread visceral involvement is described and virtually every organ in the body can be involved.

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