Cerebriform connective tissue nevus of lumbar

Connective tissue nevi represents a kind of hamartoma, and coalescence of the lesions in a cerebriform mode in the lumbar region without Proteus syndrome is rarely seen. Here, we report a 26‐year‐old woman presenting with nodules and plaques in her left lumbar region of 26 years in duration. Histopathological examination and Masson‐trichrome stain showed increased dermal collagen bundles in a haphazard array. The diagnosis of connective tissue nevi was made. This is the first case report on cerebriform connective tissue nevi without Proteus syndrome in the lumbar region.     

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.     

Multiple connective tissue nevi

Connective tissue nevi are uncommon, and rarely suspected clinically because of their diverse morphologic presentations. Histologically, we define connective tissue nevi as discrete areas within the papillary or recticular dermis where a clear predominance or depletion of collagen, elastin, or glycosaminoglycans may be found. We report a case of multiple connective tissue nevi with a predominance of dermal collagen deposition, without extracutaneous findings and no family history of connective tissue nevi. These lesions can thus be classified as being of the eruptive collagenoma type.     

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.     

Familial cutaneous collagenoma: new affected family with prepubertal onset

Two siblings presented with clinical and histopathological findings of familial cutaneous collagenoma which is a rare connective tissue nevus, inherited in an autosomal-dominant pattern. A 13-year-old girl had oval-round, soft, painless papules, 5-10 mm in size and a total of 9-10 on her abdomen and flanks. Skin biopsy demonstrated dense, coarse collagen fibers in the dermis and a decrease in elastic fibers. Doppler echocardiography indicated an atrioseptal defect of the secundum type. Her 9-year-old brother was also examined; four lesions were discovered on his back but he was otherwise normal. Our cases comprise the sixth affected family to be reported in the medical published work and all lesions had appeared prepubertally.     

Eruptive Cutaneous Collagenoma: Report of Two Cases

Introduction:Eruptive cutaneous collagenoma is non familial connective tissue nevi of unknown etiology presented with an abrupt onset.To date,the literatures on...     

Connective tissue nevi collagens. Study with picrosirius red and polarizing microscopy.

Biopsy specimens of five connective tissue nevi were examined under crossed polars after staining with Picrosirius red. One biopsy specimen was from a solitary nevus, another from a Shagreen patch. The other three specimens were of erupted nevi. In all cases, thick (as well as thin) collagen fibers appeared green to yellow. In contrast, thick fibers of normal human dermis appeared orange to red. The findings indicate that the collagen of collagenous connective tissue nevi is less well packed than normal collagen. Examination of the polarization colors of Picrosirius red-stained sections is a useful procedure for diagnosing collagenous connective tissue nevi.     

Buschke-Ollendorff syndrome: three generations in a Japanese family

Buschke-Ollendorff syndrome is an autosomal dominant disease characterized by disseminated connective tissue nevi of elastic type and osteopoikilosis. We report a 6-year-old Japanese boy with connective tissue nevi that showed slightly grouped yellowish or skin-colored papules and nodules, distributed from birth over his right thigh, right buttock, and back. Radiologic skeletal survey revealed osteopoikilosis. A skin biopsy specimen obtained from a papule showed that collagen bundles in the dermis were thickened and homogenized. The elastic fibers were not increased but were coarse and clumped. The boy's father, at age 34, has had osteopoikilosis and similar papules and nodules on his left buttock and back for the preceding 18 years. We studied the paternal grandfather, aged 65. He had osteopoikilosis and similar skin lesions on his lumbar region. None of the three had a history of hearing loss or malignant tumor. To our knowledge, this is the first report of three generations of Buschke-Ollendorf syndrome in a Japanese family.     

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.     

Linear connective tissue nevus

Abstract:  Multiple connective tissue nevi in linear arrangements, which was previously described as zosteriform connective tissue nevus, is a rare variant of connective tissue nevus. We herein report the case of an 8-year-old Japanese boy with this disease. He developed a small mass on the upper region of his right inner ankle at the age of one-half years. Then, other lesions had appeared on the inner side of his right lower leg, thigh, and groin within the next 2 years. Furthermore, multiple new lesions in linear arrangements had appeared on the right half of the abdomen and on the extensor side of the right forearm at the age of 8 years. A biopsy specimen revealed abnormalities in both the collagen bundles and the elastic fibers. Since the distribution was along Blaschko's lines, not dermatomes, we propose that the diagnosis "linear connective tissue nevus" is suitable for this clinical study.     

Progress of an isolated collagenoma during pregnancy

Collagenomas are connective tissue naevi composed predominantly of collagen. Isolated collagenomas are usually localized to a single body region, acquired, and of rare occurrence. We describe a patient with an isolated collagenoma that showed an increase in size during pregnancy and regressed afterwards.     

Isolated plantar collagenoma not associated with Proteus syndrome

Isolated plantar cerebriform collagenomas are a relatively rare type of connective tissue nevus. They have been suggested to be pathognomonic of Proteus syndrome. However, their presence is now considered to be a major criterion of Proteus syndrome, but the diagnosis of Proteus syndrome also requires the presence of other minor criteria. We present an unusual case of an acquired plantar cerebriform collagenoma, which is not associated with Proteus syndrome. Collagenomas, or connective tissue nevi of the collagen type, represent a hamartomatous overgrowth of normal collagen. Isolated plantar collagenoma is rare, and most commonly presents in childhood. We report an interesting case of an isolated plantar cerebriform collagenoma in an adult.     

Hair Follicle Nevi and Accessory Tragi: Variable Quantity of Adipose Tissue in Connective Tissue Framework

Abstract: Controversy exists about the histologic differences between hair follicle nevi and accessory tragi. We examined 10 congenital lesions histologicaiiy, possible diagnoses of which were hair follicle nevi or accessory tragi. Two specimens out of the 10 had tiny, mature hair follicles surrounded by thick fibrous root sheaths, a few fat cells, and no cartilage. The subcutaneous fat cells of their bases were segmented by a connective tissue framework. They had histologic features of hair follicle nevi. One specimen had cartilage and abundant fat cells with a connective tissue framework in the nodule, as well as a conglomeration of numerous well-differentiated hair follicles. It possessed both elements of a hair follicle nevus and an accessory tragus. Seven specimens had abundant subcutaneous fat and showed a prominent connective tissue framework. These were typical accessory tragi. The present study suggests that the number of fat cells in the nodule or papule differs between these two conditions. All the lesions studied revealed a connective tissue framework in the subcutaneous fat. Histologic features of both hair follicle nevi and accessory tragi can coexist in a single lesion. Hair follicle nevi may represent incomplete accessory tragi with scant fat cells.     

Athlete's nodules: sports-related connective tissue nevi of the collagen type (collagenomas).

Sports-related connective tissue nevi of the collagen type (collagenomas) have been referred to as athlete's nodules. Surfers, boxers, marbles players, and football players are some of the athletes in whom these lesions have been observed. The nodules can be found on the dorsal aspect of the feet, knees, or knuckles and can readily be differentiated from other conditions by either clinical history or microscopic features or both. Treatment options include conservative measures or surgical intervention. Recurrent trauma and friction to the involved location are likely causative factors. Although the ultrastructural pathogenesis remains to be established, changes in the molecular metabolism of collagen resulting in enhanced synthesis and/or accumulation of collagen may have a contributory role.     

Immunohistochemical studies comparing the localization of type XV collagen in normal human skin and skin tumors with that of type IV collagen

We investigated the localization of type XV collagen in normal human skin and skin tumors by immunohistochemical methods using a monoclonal antibody against the recombinant polypeptide of the non-collagenous region of the alpha1 chain of murine type XV collagen. Type XV collagen was localized in the dermo-epidermal, perivascular, and perineural basement membrane zones in normal skin. While this localization appeared to be similar to that of type IV collagen, detailed observation revealed that its localization was distinct in fact from that of type IV collagen which was thin and linear in appearance and was distributed inside organs. Type XV collagen was distributed broadly and zonally outside organs such as vascular and neural tissues. It was expressed at low levels in seborrheic keratosis and not expressed at all in actinic keratosis and squamous cell carcinoma. Melanocytic nevi and malignant melanomas in situ were positive for type XV collagen; melanomas with dermal invasion were negative. These findings suggest that type XV collagen plays a role in the adherence of the basement membrane to surrounding connective tissue and that it may be associated with the tumorigenesis of keratinocytes and melanocytes.     

Nevus Lipomatosus Cutaneus Superficialis (Hoffmann-Zurhelle)

We are reporting seven cases with nevus lipomatosus cutaneus superficialis. A review of the literature indicates that this is a relatively rare type of connective tissue nevus with little more than 50 cases recorded. Localization of the cutaneous nodular lesions over the upper thigh and buttock and histologic findings of fat lobules within the substance of the nevoid malformation differentiate these lesions from other varieties of the connective tissue nevi.     

Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation

Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34⁺ cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.     

Decreased collagenase production by regional fibroblasts cultured from skin of a patient with connective tissue nevi of the collagen type

A 10-yr-old female presented with cerebriform tumors covering the plantar surfaces of both feet. Histologically, the lesions consisted of thick collagen fibers and the content of collagen per surface area of skin was increased about 8-fold. Examination of the collagen by SDS-polyacrylamide gel electrophoresis, after limited pepsin proteolysis, showed that the lesions consisted almost exclusively of type I collagen, the predominant collagen type in human skin. Thus, a diagnosis of connective tissue nevi of the collagen type was made. Fibroblast cultures were established from the affected and normal-appearing areas of the skin, and examined for the rate of collagen synthesis, production of collagenase and growth kinetics of the cells. Cell cultures derived from the lesion and from control skin synthesized procollagen at the same rate and in a normal type I/type III procollagen ratio. However, the production of enzymatically active and immunologically detectable collagenase was reduced by 70-82% in the cultures derived from the lesion as compared to controls (p less than 0.005). Fibroblasts derived from the lesions also displayed a mean population doubling time of 1.17 +/- 0.08 days compared to 1.83 +/- 0.24 and 1.92 +/- 0.09 days for control cell strains and cells derived from normal skin of the patient, respectively (p less than 0.025). These results suggest that the excessive deposition of collagen in this case may have resulted from decreased local degradation of collagen. Enhanced proliferative capacity of the regional fibroblasts may have contributed to the accumulation of collagen in these lesions.     

Zosteriform connective tissue nevus: a case report

Zosteriform connective tissue nevus is a rare form of connective tissue hamartomas, which arises from cells of mesodermal origin. Despite similar clinical appearance of many connective tissue nevi, they can be differentiated histochemically and/or biochemically on the basis of the primary connective tissue element present. There are only 3 reported cases of zosteriform connective tissue nevi in the worldwide literature. We report a case occurring in a 25-year-old male with approximately 40 nodules and smaller papules distributed in a zosteriform fashion on the right lower lumbar region and upper gluteal region. The identification of the lesion by deep biopsy excluded the important differential diagnosis of segmental neurofibromatosis.     

Defects in the biochemistry of collagen in diseases of connective tissue.

The collagens are the major structural glycoproteins of connective tissues. A unique primary structure and a multiplicity of post-translational modification reactions are required for normal fibrillogenesis. The post-translational modifications include hydroxylation of prolyl and lysyl residues, glycosylation, folding of the molecule into triple-helical conformation, proteolytic conversion of precursor procollagen to collagen, and oxidative deamination of certain lysyl and hydroxylysyl residues. Any defect in the normal mechanisms responsible for the synthesis and secretion of collagen molecules or the deposition of these molecules into extracellular fibers could result in abnormal fibrillogenesis; such defects could result in a connective tissue disease. Recently, defects in the regulation of the types of collagen synthesized and in the enzymes involved in the post-translational modifications have been found in heritable diseases of connective tissue. Thus far, the primary heritable disorders of collagen metabolism in man include lysyl hydroxylase deficiency in Ehlers-Danlos syndrome type VI, p-collagen peptidase deficency in Ehlers-Danlos syndrome type VII, decreased synthesis of type III collagen in Ehlers-Danlos syndrome type IV, lysyl oxidase deficency in S-linked cutis laxa and Ehlers-Danlos syndrome type V, and decreased synthesis of type I collagen in osteogenesis imperfecta.