类脂蛋白沉积症

报告1例类脂蛋白沉积症.患儿女,13岁.患儿自幼眼睑即出现串珠样丘疹、面部痤疮样瘢痕、面部及双手背蜡样丘疹、声音嘶哑及生长发育迟缓,同时伴有青春期性腺发育迟缓.面部皮损组织病理检查:真皮乳头及真皮浅层可见均质红染物质沉积.结合临床表现,诊断为类脂蛋白沉积症.     

Lipoid proteinosis

A 21-year-old man presented with a complaint of hoarseness as well as lesions along the eyelids and on his knees, elbows, and fingers. Hoarseness had developed in childhood, followed by lesions along the eyelids and on the elbows and fingers. He had developed lesions on the knees, feet, scrotum, penis, and axilla over the last 2 years. His parents were relatives, but nobody in the family showed similar features. His physical examination was normal. On dermatologic examination, there were beaded papules along the eyelids and small, yellow-white infiltrations on the tongue, buccal mucosa, palate, scrotum, and penis (Fig. 1). His tongue was firm and its mobility was limited. He also had infiltration of the frenulum (Fig. 2) and warty and hyperkeratotic papular and nodular lesions on the hands, knees, elbows (Fig. 3), and axilla. The laboratory findings and laryngoscopic examination were normal. Ophthalmologic, neurologic, and psychiatric examinations were also normal. Electroencephalogram (EEG), electromyogram (EMG), craniography, and cranial computed tomography (CT) scanning revealed no abnormality. The histopathologic examination of the skin biopsy specimens obtained from the axilla, elbow, and dorsum of the hand showed hyperkeratosis and periodic acid-Schiff-positive (PAS(+)) staining hyaline material around the dermal capillaries and sweat glands, and confirmed the diagnosis of lipoid proteinosis.     

Lipoid proteinosis

A 20-year old male presented with hoarseness of voice since birth, beaded papular lesions on both eyelids, multiple hypopigmented atrophic scars on trunk and extremities and yellowish infiltrated plaques on tongue, palate and buccal mucosae. Patient was diagnosed clinically as a case of lipoid proteinosis. It was confirmed by mucosal biopsy.     

Lipoid proteinosis

The case of a 37-year-old woman with lipoid proteinosis is presented. The first symptoms of hoarseness of voice occurred in puberty. Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, popular eruption in the axillary area and tuberous nodules on the elbows.     

Lipoid proteinosis

Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vessels and at the dermal--epidermal junction. Recently, lipoid proteinosis was mapped to 1q21 and pathogenetic loss-of-function mutations were identified in the extracellular matrix protein 1 gene (ECM1). This article reviews the molecular basis of lipoid proteinosis and reassesses the clinico-pathological features of this disorder in light of the new genetic discoveries.     

Lipoid proteinosis in siblings

Two sisters, aged 16 and 11, presented with skin lesions and hoarseness since early childhood. Skin lesions consisted of infiltrated warty nodules, and papules over elbows, axillae, and hands. The oral mucosa, tongue, lips, larynx, and vocal cords also showed infiltration. The characteristic beaded papules on eyelid margin and hoarseness pointed to the rare diagnosis of lipoid proteinosis.     

类脂蛋白沉积症一例

摘要：患者男,34岁,哈萨克族人,身上起皮疹伴声音沙哑20余年。体检：心、肺、腹部检查无阳性体征。声音嘶哑明显。毛发稀疏,头皮、面、颈部皮肤可见粟粒大小的肤色丘疹弥漫分布,表面光滑,呈蜡样,可见瘢痕改变,眼睑增厚,睫毛稀疏,睑缘可见串珠状蜡样丘疹。双肘、臀部可见对称分布的疣状增生的肥厚性浸润性粉红色结节或斑块,呈脑回状。鼻咽喉镜示：双侧声带增生性肥厚,会厌表面不规则增厚而不光滑。口咽粘膜可见弥漫性淡黄色沉积物,表面凹凸不平。活检组织病理：（肘部和会厌）真皮全层或粘膜固有层可见弥漫的均质红染的透明样物质沉积,血管周围可见同样物质沉积。PAS染色：透明样物质强阳性,甲紫及刚果红染色：阴性。诊断：类脂蛋白沉积症。     

Lipoid proteinosis: Ultrastructural and biochemical studies

Lipoid proteinosis, a rare autosomal recessive disease, is histologically characterized by deposition of hyalinlike material in the dermis. In this study the pathologic processes of lipoid proteinosis were evaluated by ultrastructural and biochemical analysis of skin and cultured fibroblasts from a patient with classic features of the disease. Transmission electron microscopy revealed the presence of hyalinlike material with a granular appearance interspersed between collagen fibers. Immediately surrounding the blood vessel walls, there was reduplication of basal laminae in an "onionskin" arrangement. The fibroblastic cells in the affected dermis contained peculiar cytoplasmic inclusions. Biochemical studies with the cultured fibroblasts showed that the total synthesis of extracellular matrix components, as detected by the synthesis of radioactive hydroxyproline or the incorporation of 35SO4(2-) and [3H]glucosamine into macromolecules, was not altered in lipoid proteinosis. However, the relative expression of type I and type III procollagen genes, as detected by molecular hybridizations with pro-alpha 1(I) and pro-alpha 1(III) procollagen complementary deoxyribonucleic acid probes, was markedly altered in cultured fibroblasts. Specifically, the type I procollagen messenger ribonucleic acid (mRNA) levels were significantly reduced, resulting in a decreased type I/III procollagen mRNA ratio. Furthermore, the replicative capacity of lipoid proteinosis fibroblasts, as detected by the incorporation of radioactive thymidine, was reduced. Thus the skin fibroblasts from lipoid proteinosis demonstrate ultrastructural changes, as well as alterations in their phenotypic characteristics, and these changes may have relevance to the pathologic processes of this systemic disease affecting the skin and other organs.     

Lipoid proteinosis: report of three familial cases

Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.     

Lipoid proteinosis: a case series from Istanbul

BACKGROUND: Lipoid proteinosis (LP) is a very rare genodermatosis. The literature on LP consists of case reports only. As we have observed 14 LP patients belonging to nine different families in the last 15 years in our practice, we decided to review all reported Turkish LP patients in this 15-year period, and noted 37 diagnosed cases. The reasons for this relatively large number of cases, the clinical features of the patients, and the associations of LP with other clinical conditions are described in this article. METHODS: Fourteen LP patients followed in our university clinic in Istanbul were scrutinized with regard to their demographic and clinical features. Diagnoses were established using clinical features, with histopathologic confirmation in 13 cases. RESULTS: All but one of the patients had a history of consanguinity, or at least a marriage of parents from the same village. Typical cutaneous signs of LP and hoarseness of the voice were observed in all patients. Two patients of the same pedigree had insulin-dependent diabetes mellitus (IDDM), two patients from two different pedigrees had short stature, one patient had multinodular toxic goiter, and one patient had celiac disease. CONCLUSION: LP is not rare in Turkey as consanguineous marriage is still a social problem, especially in some rural areas. The disease is not limited to a particular geographic region in Turkey. Short stature was observed in two cases from two different families, an association not reported previously; the association of LP with IDDM in one pedigree was thought to be coincidental.