Lipoid Proteinosis: Clinical, Genetic, and Pathological Study of a Saudi Arabian Family

Abstract

We present the morphological features and clinical progression of lipoid proteinosis observed in six patients from a Saudi family. The index case presented with hoarseness and characteristic skin lesions. Some of the patients had photosensitivity with milia and hypertrichosis. The diagnosis of lipoid proteinosis was confirmed by histopathology and by the finding of normal blood porphyrin levels. The condition is inherited as an autosomal recessive disorder, and consanguinity was an important factor. The rarity of this condition and the common occurrence of close-relative intermarriages in Saudi Arabia prompted this report, which we believe is the first and largest family with lipoid proteinosis possessing an established Arabian ancestry.MAE Uthman, MB Satti, ME Baraka, Lipoid Proteinosis: Clinical, Genetic, and Pathological Study of a Saudi Arabian Family. 1991; 11(4): 418-423 Lipoid proteinosis, also known as hyalinosis cutia et mucosae, is a rare autosomal recessive disorder characterized by deposition of homogeneous hyaline material in the skin and the mucosae of the head and neck region. The histochemical nature of the hyaline deposits has been demonstrated to be a glycoprotein. The presence of lipids, however, is not an essential feature [1]. The pathogenesis of the disease is unknown. Recent data, however, strongly suggest a perturbation of collagen metabolism with excessive production of matrix glycoproteins [2,3].Approximately 250 cases of lipoid proteinosis have been described in the literature, mostly in patients with a known European ancestry [4]. In this paper, we describe a Saudi Arabian family in which six of the offspring are affected by the disease. We describe the clinical features and genetic background of this rare condition to facilitate its diagnosis in an area of the world where consanguinity is common and is expected to contribute to an increased incidence of the disease. Subjects and Results Case ReportAn 11-year-old boy (propositus in pedigree and number 3 in Tables 1 and 2) was the first patient seen with hoarseness and skin lesions that had existed since infancy. Examination revealed thickening of the skin and presence of pock-like scarring on the face. The free margins of his eyelids were thickened and beaded with tiny waxy papules (Figure 1). Atrophic scars and hyperpigmented verrucoid plaques were present in the limbs and particularly on the elbows and knees. The tongue was thickened with pale yellowish plaques and its margins were irregular (Figure 2). Its mobility was restricted and it appeared to be stuck to the floor of the mouth. The mucosae of the lips, soft palate, and palatoglossal folds showed irregular thickening and similar yellowish plaques. Laryngeal examination using indirect laryngoscopy was practically impossible to perform due to difficulty in tongue protrusion. However, microlaryngoscopic examination revealed white to yellow plaques on the laryngeal mucosae, and the margins of the true vocal cords were thickened and nodular. A clinical diagnosis of lipoid prote...

Late presentation of laryngeal lipoid proteinosis: a case report and review of the literature

“…Respiratory distress can occur after a diffuse infiltration of the pharynx and larynx, necessitating tracheostomy [ 4 , 8 ]. Contrasting to our patient, incomplete glottal closure and restricted vocal fold mobility were evident in some patients with severe hoarseness [ 5 , 12 ].…”