Hyalinosis cutis et mucosae: A clinical investigation with special regard to mucosal changes

Bizarre blistering and scarring in infancy

“…Neurological complications include epileptic seizures, mental retardation, and behavioral changes [10]. Dysphagia and respiratory obstruction are rare [4,7].…”

“…Lipoid proteinosis shows a progressive course until adulthood with good general prognosis and normal life expectancy. Therapy includes (laser) surgical removal of symptomatic deposits in mucous membranes [4,11,12] and dermabrasion, laser resurfacing, or excision of disfiguring lesions [2,4,11,12]. Variable responses to systemic therapies with acitretin, D-penicillamine, and dimethyl sulfoxide have been reported [2,11,12].…”

“…Half of the patients display pale papules arranged linearly on the eyelid margin and partial alopecia of cilia (moniliform blepharosis). Macrocheilia and macroglossia frequently cause motility restrictions of the tongue [4]. Alopecia and dental anomalies are possible.…”

Lipoid proteinosis

“…11 Cobblestone appearance of the oral mucosa, yellow lip nodules, lipeversion, vegetative lesions, fissures in the lateral commissures and oral ulcers may be seen in patients with widespread disease. 33,34 Involvement of salivary glands, usually submandibular and parotid glands, may cause hyposalivation. Recurrent parotitis (Fig.…”

“…Hypoplasia or aplasia may occur in the teeth, especially in the lateral incisors and premolars. 11,[32][33][34][35][36] The largest series of oral findings observed in patients with LP was analyzed by Frenkel et al They analyzed 133 cases from 1948 to 2016, as well as four cases of their own. In this study, tongue (68%), floor of the mouth (55.8%), lips (43%) and buccal mucosa (40%) were found to be the most frequently affected mouth regions.…”