OC12
Lipoid proteinosis (Urbach‐Wiethe disease)

Abstract

Lipoid proteinosis (LP), also known as Urbach‐Wiethe disease is a rare, autosomal recessive disorder associated with deposition of acid‐Schiff (PAS)‐positive hyaline‐like material in various tissues including skin, mucosal membranes and internal organs. The aetiology of LP is currently unknown. A 17‐year‐old male complaining of oral lesions and tooth pain was referred to our clinic, depending on characteristic infandible hoarseness, pox‐like and acneiform scar‐like lesions on his face, beaded eyelid papules, loss of hair, tuberous nodules on the elbows and generalized skin thickening had been diagnosed with LP. He had the characteristic old‐looking appearance. Intraoral examination showed macroglossia with a thickened frenulum and lateral impressions of teeth, yellowish papules on the tongue and yellowish deposits on the soft palate. There wasn't any structural abnormalities in radiographic examination. He had no other systemic disorder. He had poor oral hygiene, severe periodontal problems and multiple severe caries lesions. The patient was evaluated for the individual treatment needs of the problems he had been. The teeth extractions, restorative and periodontal treatments were done. Intraoral tissues were fragile, and healing process was observed to be slower than usual. In this case, limited mouth opening, macroglossia and the thickened oral mucosa restricted the treatment procedures in oral region. Throughout medical treatment patient's oral health status will be followed. This report pointed out to the rare finding of gingival hyperplasia due to hyalin‐like material deposition in gingival tissues, which was not induced by any drug therapy.

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

“…The mucosae of the pharynx, tongue, soft palate, tonsils and lips are also infiltrated and this may lead to respiratory difficulty, especially in association with an upper respiratory tract infection, sometimes requiring tracheostomy. Gingival hypertrophy may also develop (8). Recurrent episodes of inflamed parotid and submandibular glands may occur but the most evident oral abnormality is a shortened tongue with a thickened sub-lingual frenulum (Fig.…”