Hyalinosis Cutis et Mucosae

Grosfeld, J.C.M.; Spaas, J. A. J.; Staak, W.J.B.M. van de; Stadhouders, A. M.

doi:10.1159/000254537

Cited by 41 publications

(6 citation statements)

References 12 publications

(16 reference statements)

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“…The earliest and most typical symptom of lipoid proteinosis is hoarseness [4], and in its absence the diagnosis has been considered to be doubtful [9]. Hoarseness during childhood was present in all our patients and is thought to be due to progressive infiltration and thickening of the true vocal cords [10].…”

Section: Discussionmentioning

confidence: 85%

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

1991

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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...

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Section: Discussionmentioning

confidence: 85%

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

1991

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“…Although most cases have been seen in the Caucasian races in South Africa and Central Europe, few cases have also been described from Asia [1,5]. Till date not more than 500 cases have been reported worldwide.…”

Section: Casereportmentioning

confidence: 99%

Full Blown Case of Lipoid Proteinosis

Kachewar

Singh

Sasane

et al. 2011

Medical Journal Armed Forces India

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“…Thickening and nodularity of the vocal cords and of adjacent structures are seen. 6 Lesions are found in the interarytenoid areas and on the aryepiglottic folds. Later, the true and false cords may be involved and airway compromise may develop.…”

Section: Ijoplmentioning

confidence: 99%

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

Koganti¹

2013

International Journal of Phonosurgery &Amp; Laryngology

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Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice.

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Hyalinosis Cutis et Mucosae

Cited by 41 publications

References 12 publications

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

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

Full Blown Case of Lipoid Proteinosis

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

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