Familial cutaneous collagenoma: a clinicopathologic study of two new cases

Two siblings with familial cutaneous collagenoma syndrome had the essential clinical features of multiple skin-colored nodules on the trunk and upper arms. On light microscopy, histopathologic findings included excessive accumulation of dense, coarse collagen in the dermis. Elastic tissue stains demonstrated a proportionately diminished number of abnormal elastic fibers intermingled with the collagen bundles. A predominance of densely packed collagen bundles of normal morphology with a marked decrease in abnormal elastic tissue were the major ultrastructural features. The diagnosis was therefore confirmed to be connective tissue nevi of the collagen type. The differential diagnosis of connective tissue nevi disorders is delineated.     

Familial cutaneous collagenoma: genetic studies on a family.

Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.     

席纹状胶原瘤

报告1例席纹状胶原瘤。患者男,46岁。背部肿物40年余,缓慢增长,无自觉症状。无系统性疾病病史。皮损组织病理检查示表皮轻度萎缩,真皮内可见一边界清楚的结节,无包膜,病变均匀、局限,由大量透明样变的胶原束组成,胶原束之间见许多裂隙,排列成席纹状。诊断:席纹状胶原瘤。     

A Case of Eruptive Collagenoma on the Left Calf

Eruptive collagenoma is an acquired connective tissue nevus without family history. It is typically described as numerous small papules or nodules on the trunk and arms with histopathological features of decreased or degenerated elastic fibers. We report a case of a 16-year-old male who presented with multiple asymptomatic 2 to 5 mm sized yellowish grouped papules on the left calf. Histopathologically, the lesion showed thickened homogenized collagen fibers highlighted by Masson trichrome stain and decreased and fragmented elastic fibers stained by Verhoeff-van Gieson stain. The skin lesion was diagnosed as eruptive collagenoma and no treatment was provided.     

Solitary giant cell collagenoma

Collagenoma or collagen nevus of the connective tissue is a hamartomatous malformation of the dermis, characterized by a proliferation of normal collagen tissue. This may be congenital or acquired, solitary or multiple, hereditary or sporadic. The solitary type are sporadic, not associated with any disease, and may appear on any part of the body. Histology studies show an increase of collagen fibers in the dermis and a variable decrease in elastic fibers. We discuss the case of a child with a solitary giant cerebriform collagenoma on the lumbar region of her back.     

Dermatitis herpetiformis bodies. Ultrastructural study on the skin of patients using direct preembedding immunogold labeling

Skin samples from three adult patients with dermatitis herpetiformis (DH) and granular IgA deposits in the papillary tips were studied using ultrastructural immunogold technique. IgA positive, so-called DH bodies were identified as amorphous clumps--most probably immunocomplex aggregates--scattered throughout the upper papillary dermis. Dermatitis herpetiformis bodies were seen underneath the basement membrane, sometimes along microfibrillar bundles, as well as adjacent to the papillary collagen fibers and within the surface (microfibrillar) region of elastic tissue. Some DH bodies, however, were not related to any fibrillar components. The collagen and elastic fibers, microfibrillar bundles, anchoring fibrils, and elastic microfibrils themselves were unlabeled. Dermatitis herpetiformis bodies were not found in normal human skin. The results of our ultrastructural study indicate that DH bodies either are bound to a nonfibrillar component of dermal connective tissue or represent deposits of immune complexes trapped in DH skin.     

Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue

We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.     

发疹性皮肤胶原瘤1例

报告发疹性皮肤胶原瘤1例,患者男,38岁。背部,肩部出现多发性扁平丘疹,结节及斑块8年,皮损为正常肤色,直径数毫米至数厘米,部分融合成斑块,无自觉症状,无家族史,组织病理检查示,胶原纤维变厚,增殖,弹性纤维减少,诊断为发疹性皮肤胶原瘤。     

STRUCTURAL ABNORMALITIES IN THE MITIS FORM (TYPE-II) OF EHLERS-DANLOS SYNDROME

The ultrastructure of collagen fibers in the dermis of Ehlers-Danlos syndrome (EDS) has been described in several previous reports. However, discussions of the ultrastructural changes in EDS-Type II have been infrequent and brief. The behavior of alterative degeneration remains unclear, although there has been one previous report each on EDS-Type I, Type VI, and Type VII (1, 3, 6). Our ultrastructural studies of EDS-Type II revealed that bundles of collagen fibers were slightly thinner than in normal human skin, as were the individual collagen fibers also. Two or three serrated collagen fibers (up to 188 nm) were seen within the collagen bundle. The width of these serrated fibers was clearly less than in EDS-Type I, and these fibers were less frequent than in the severe clinical form of EDS. It could be useful to be able to classify the subtypes of the EDS by structural pattern as well as by clinical appearance.     

Isolated plantar collagenoma: a case report

Collagenoma is a hamartomatous lesion consisting of proliferation of normal collagen tissue. We describe a 19-year-old girl with a firm, elastic 3 x 2 cm nodule located on her right plantar fossa. Histopathologically, dense, coarse, thick collagen fibers were located in the dermis. In addition, the number of elastic fibers was slightly decreased. Based on these findings, the case was diagnosed as isolated plantar collagenoma.     

Circumscribed storiform collagenoma (sclerosing fibroma)

In the past several years we have examined eight dermal nodules that have morphologic features identical to the nodules described in patients with Cowden's disease. The patients in this series had no other clinical manifestations of Cowden's disease. In an attempt to better define this distinctive entity, we subjected tissue sections to a battery of histochemical and immunohistochemical stains and examined tissue from one of the nodules ultrastructurally. Although we found similarities between these nodules and other common dermal fibrotic lesions, we believe that they are distinctive architecturally (they are sharply circumscribed and have a strikingly uniform storiform pattern) and immunohistochemically (with uniformly scattered factor 13a-positive cells). Because of the unique histologic features, we propose that the term "circumscribed storiform collagenoma" be applied to these nodules.     

节段性皮肤僵硬综合征一例

患儿,男,5岁。左股部皮肤硬化、多毛4年余。皮损组织病理示:真皮胶原纤维增多、增粗,排列紊乱,缺乏炎症,胶原纤维间可见脂肪细胞。阿新蓝染色:真皮内黏蛋白增多。诊断:皮肤僵硬综合征。     

A case of eruptive collagenoma localized on the neck and shoulders

A 78-year-old woman, who had first noticed asymptomatic eruptions on her neck and shoulders eight years earlier, presented with papules and nodules 2 to 20 mm in diameter that had a normal to white hue and were flatly elevated. These lesions were scattered and multiple, some forming confluent plaques. Histopathologically, the epidermis was slightly atrophied, and collagen fibers in the dermis were coarse and proliferated. In addition, the number of elastic fibers was slightly decreased. No complications were evident. Based on these findings, the patient was given a diagnosis of mild eruptive collagenoma, a type of connective tissue nevus according to the classification of Uitto. This case is unique in that onset was at an advanced age and that distribution was localized on the neck and shoulders.     

Nephrogenic fibrosing dermopathy.

This report details the histopathologic findings in a unique fibrosing disorder that recently emerged among patients with renal disease. The affected patients were initially identified among recipients of renal transplants at a single institution, but later cases at other centers were identified, and included patients receiving renal dialysis for a variety of different kidney diseases. The cutaneous changes consisted largely of indurated plaques and papules on the extremities and trunk. Systemic findings seen in scleromyxedema, which the condition resembles in some respects, were absent. By routine microscopy, the findings range from a very subtle proliferation of dermal fibroblasts in early lesions, to a florid proliferation of fibroblasts and dendritic cells in fully developed cases. Thick collagen bundles with surrounding clefts are a prominent finding, and a variable increase in dermal mucin and elastic fibers was usually evident with special stains. CD-34 positive dermal dendrocytes were floridly abundant, with dendritic processes aligned with elastic fibers and around collagen bundles in a dense network. Factor XIIIa and CD-68 positive mono-and multinucleated cells are also present in increased numbers. Electron microscopy highlighted increased elastic fibers closely apposed to dendritic cell processes. The entire dermis was commonly involved, with increased spindle cells, collagen, mucin, and elastic fibers extending through the subcutis along the septa of fatty lobules. In some instances, the process resembled a sarcoma on histopathologic examination. The recent emergence of this condition and the apparent clustering of cases in specific dialysis centers initially suggested a possible infectious and/or toxic agent. To date, however, no such agent has been identified. We propose the term "nephrogenic fibrosing dermopathy (NFD)" until a specific cause can be identified.     

白色纤维性丘疹病1例

报告1例白色纤维性丘疹病.患者女,28岁,双上肢及上背部丘疹1年,既往鱼鳞病病史20年.皮肤科检查:双上肢及上背部散在白色丘疹,直径2～3 mm,瓷白色,未有融合倾向.皮损组织病理检查示表皮网篮状角化过度,真皮浅层血管周围少量淋巴组织细胞,真皮中上层胶原纤维束增粗.弹性纤维染色显示真皮浅层弹性纤维减少.胶原纤维及弹性纤...     

Hereditary progressive mucinous histiocytosis

We describe a 61-year-old woman who presented with multiple small, firm, shiny, skin-coloured papules in a symmetrical pattern on the dorsum of the hands, sides of the fingers and extensor aspect of the forearms. These had slowly increased in number over a period of 40 years, and were asymptomatic. Both laboratory results and systemic review were unremarkable. Histological examination of six papules revealed well-circumscribed but unencapsulated dermal nodules composed of epithelioid histiocytes and abundant alcian blue-positive mucin separating broad bundles of collagen. Histiocytes within the nodule stained positively with vimentin, and were focally positive for alpha1-antitrypsin and lysozyme. The interstitium was positive for tenascin. On electron microscopy, the histiocytes showed numerous circular, osmophilic myelin bodies and zebra bodies reminiscent of those seen in lysosomal storage diseases. Our patient's clinical, histological and ultrastructural features have been previously described as hereditary progressive mucinous histiocytosis, a rare familial form of eruptive histiocytoma characterized by multiple persistent papules with prominent mucinosis.     

Eruptive collagenoma

A case of eruptive collagenoma in a male is being reported. He presented with asymptomatic nodules and plaques over the trunk, upper extremity and face of 15 years duration. Family history was negative. Histopathology with H & E stain followed by Verhoeff van Gieson's staining revealed increased collagen in dermis confirming the diagnosis of eruptive collagenoma. Patient also had Beckers naevus.     

梅毒硬下疳组织超微结构研究

目的 从形态学角度研究一期梅毒的发生和发展。方法 在透射电镜下观察梅毒硬下疳组织细胞超微病理变化。结果 真皮内血管基膜局部薄或溶解破坏，血管内皮细胞增生，部分胶原纤维变粗，螺旋体（TP）周围的纤维丝出现断裂。末梢神经轴突结构破坏，有髓神经纤维髓鞘排列不整、板层分离，并有TP吸附。血管内皮细胞及成纤维细胞的胞浆内有轻度肿胀的TP片断。浸润的中性粒细胞、巨噬细胞、浆细胞的胞浆内有吞入的TP，大部分TP外周均有一个清晰的壳膜。结论 梅毒硬下疳特征性超微病理改变，在形态学方面解释了一期梅毒病变过程及损伤机制。     

Fibroblastic rheumatism: a case without rheumatological symptoms

Fibroblastic rheumatism is a rare syndrome characterized by the association of multiple cutaneous nodules with symmetric polyarthritis. We report on a patient who presented a 4-year history of pink to skin-coloured nodular lesions symmetrically localized at para-articular sites without evident rheumatological symptoms. Histopathology of a skin nodule led to the diagnosis of fibroblastic rheumatism showing a poorly circumscribed dermal proliferation of spindle and stellate fibroblast-like cells embedded in thickened collagen bundles with a marked reduction of elastic fibres. X-rays of both hands and feet showed metacarpophalangeal, metatarsalphalangeal and interphalangeal erosions, unexpected by patient history. This case of fibroblastic rheumatism appears unique in view of the absence of any clinical manifestation of polyarthritis at 7 years from appearance of skin lesions.     

Light and electron microscopy of eruptive collagenoma

Connective tissue nevi may be multiple or solitary, sporadic or familial. Eruptive collagenoma is a variant of the acquired collagenomas characterized by multiple sclerotic papules with an acute onset. A 13-year-old girl reported that in the past year, small asymptomatic lesions began to appear in her skin, 30 lesions were seen in the trunk, 5 in the cervical region and 1 in the face. Light microscopy with hematoxylin and eosin staining showed sparse collagen fibers, with Weigert staining diminished elastic tissue was observed. Scanning electron microscopy of the dermis showed individualized collagen fibers forming waved compact masses and not bundles. Transmission electron microscopy also showed sparse and loose collagen fibers with different diameters in cross sections.