Hyalinosis cutis et mucosae: diagnosis based on oral manifestations--report of a case

Hyalinosis cutis et mucosae is a rare, autosomal recessive disorder characterized by diffuse deposition of a hyaline-like material in the skin and mucous membrane of the oral cavity, upper respiratory tract, and internal organs. In the first weeks of life it begins with typical hoarseness due to hyaline deposits in the larynx. Rough, yellowish-white papular deposits in the skin and the oral mucosa usually develop during childhood. The etiology and pathogenesis are unknown and the treatment is only symptomatic. A 14-year old boy developed several typical clinical features of the disease since birth and remained undiagnosed until he was referred by his dentist to our department for oral evaluation. The clinical, histopathological and immunological aspects of the patient are discussed in detail. Oral and systemic manifestations of the disease are also reviewed. The oral mucosa appeared nodular, diffusely enlarged and thickened because of infiltration with waxy-yellowish-white plaques and nodules. The patient also exhibited a thickened, furrowed appearance of the skin with several skin scars, eyelid nodules, loss of eyelashes and voice hoarseness. The clinical diagnosis of hyalinosis cutis et mucosa was confirmed histologically.