An Appraisal of Hyalinosis Cutis et Mucosae

Laymon, Carl W.; Hill, Elmer M.

doi:10.1001/archderm.1957.01550130057005

Cited by 30 publications

(7 citation statements)

References 20 publications

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“…Skull x-ray studies of our patients were negative, but CT scans were more sensitive in demonstrating the presence of brain calcification in two patients and showed characteristics similar to those described by others [15,16]. The presence of intracerebral calcification has been held responsible for the occurrence of convulsive seizures [17], but we were unable to relate them to the existing neurological deficits in the two patients with such calcification.…”

Section: Discussionsupporting

confidence: 62%

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: Discussionsupporting

confidence: 62%

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

1991

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“…The histological findings leave no doubt that our patient has the same disorder as that described by Laymon and Hill (1957) and by Ungar and Katzenellenbogen (1957), although the changes are less advanced than those described and illustrated in the latter paper. We cannot help to elucidate the nature of the hyaline material, which in its perivascular distribution bears a resemblance to amyloid but in its staining properties shows wide differences.…”

Section: Discussionsupporting

confidence: 74%

“…The clinical aspects, pathological findings, and literature have been well reviewed recently (Laymon and Hill, 1957;Eberhartinger and Niebauer, 1959;Ungar and Katzenellenbogen, 1957). Ramos e Silva (1943) described two additional features found in this condition -petechiae of the face and endocranial calcification, which he thought occurred in dural folds.…”

Section: Department Of Pathology United Oxford Hospitalsmentioning

confidence: 99%

Case of Lipoid Proteinosis

Cowan¹,

Alexander²,

Vickers³

et al. 1961

BMJ

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“…Classic lipoid proteinosis is said to have three cardinal features: hoarseness of the voice, beaded thickening of eyelid margins (moniliform blepharosis) and intracranial calcification 7 . Calcification has normally been associated with mental retardation and epilepsy 8 . Our patient appeared mentally subnormal but did not have any calcification.…”

Section: Discussionmentioning

confidence: 44%