1/22. Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.BACKGROUND: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. OBSERVATIONS: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. CONCLUSION: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/22. Calcifying aponeurotic fibroma: a report of three cases.Three cases of calcifying aponeurotic fibroma in an 8-year-old boy, a 43-year-old woman and a 48-year-old man are presented. The lesions involved the substance of the palmaris longus tendon, the lateral aspect of the foot at the base of the fifth metatarsal and the fifth digit of the foot, respectively. The clinical and radiologic findings, including ultrasound and computed tomography, are described. Histologic features included chondroid tissue and calcification within areas of proliferative plump fibroblasts in the younger patient, while in the two adults the lesions were more sharply defined showing increased calcification of dense connective tissue with less pronounced cellularity and no evidence of chondroid differentiation.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/22. Atypical palmar fibromatosis with giant fibrous nodule: a case report.We present an unusual case of palmar fibromatosis. A 62-year-old man had a giant fibrous nodule in the deep fascia of the right palm without any pretendinous cord or flexion deformity at the metacarpophalangeal joint. Primarily soft-tissue tumor and palmar fibromatosis were considered as differential diagnosis of nodular mass but finally the latter was confirmed histologically after resection of the giant nodule.- - - - - - - - - - ranking = 7keywords = palm (Clic here for more details about this article) |
4/22. Cutaneous sclerosing perineurioma of the digits: an uncommon soft-tissue neoplasm. Report of two cases with immunohistochemical analysis.BACKGROUND: Cutaneous sclerosing perineurioma is a recently characterized, uncommon tumor composed of perineurial cells, which exhibits immunoreactivity for epithelial membrane antigen (EMA). These lesions occur preferentially in children and young adults and usually develop as dermal or subcutaneous nodules in the hands or palms. methods: We report two cases of cutaneous sclerosing perineurioma in young patients without stigmata of neurofibromatosis. Histologically, these lesions were well-circumscribed masses and were characterized by a variable number of epithelioid and spindle cells with wavy nuclei end elongated cytoplasmic processes embedded in a dense collagen stroma. RESULTS: These cells showed focal whorling formation, demonstrated robust immunoreactivity for EMA and CD99, and were uniformly negative for S-100 protein, actin (HHF-35), CD34, cytokeratin AE1-3, and CD57. CONCLUSION: We comment on the differential diagnosis of fibrous cutaneous lesions based on immunohistochemistry.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/22. Clinical and cellular effects of colchicine in fibromatosis.The proliferating cells in fibromatoses are myofibroblasts that produce abundant stromal collagen and contain intracellular native and widely spaced collagen fibers. To assess the clinical and cellular effects of colchicine in such tumors, this drug was administered to three patients, one with musculoaponeurotic desmoid fibromatosis, one with Dupuytren's palmar fibromatosis, and one with Peyronie's disease. All three patients had an excellent clinical response, with reduction of tumor size and improvement of contracture. Two cases were studied ultrastructurally; the main cellular changes detected were collapse of the rough endoplasmic reticulum cisternae, reduction of myofilaments, and disappearance of intracellular widely spaced collagen. The findings from this study indicate another probable application for colchicine and support the concept that collagen fibers can be formed intracellularly.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/22. Early recognition of basal cell naevus syndrome.The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction, although diagnosis in infancy is rare. We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family. Conclusion: Our observations lead us to recommend looking for other manifestations of this disease in patients who present with cardiac fibroma, cleft lip/palate, polydactyly or macrocephaly. Bifid, fused or splayed ribs should be considered a major criterion of great help in establishing a diagnosis, particularly in young children.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/22. Infantile lipofibromatosis of the upper limb.The imaging features of extensive lipofibromatosis presenting in a 1-day-old female infant are reported. This lesion involved her entire right upper limb, extending from the axilla to the palm of the hand. Radiographs showed marked deformity and thinning of all the right upper-limb bones due to pressure effect of soft-tissue enlargement, especially affecting the distal humerus and proximal forearm bones. magnetic resonance imaging showed a huge soft-tissue mass infiltrating most of the muscles of the entire upper limb, with bony erosion. The mass was largely T1-isointense, moderately T2-hyperintense and showed marked enhancement. There were intra-lesional signal changes consistent with fatty elements. A lesion debulking procedure was performed and the histology was that of lipofibromatosis. The limb was found to be non-viable after the procedure and a subsequent above-elbow amputation was performed. Although the resection margins were not clear, she had no further recurrence over a subsequent 3-year follow-up period.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/22. Gorlin syndrome presenting as prenatal chylothorax in a girl.Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant condition with an estimated prevalence of 1:57 000. GS is associated with congenital malformations and predisposition to neoplasms. The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar epidermal cysts, facial dysmorphism, and cerebral falx calcification. More than 100 other clinical manifestations have also been described in the literature including ovarian fibroma, enlarged cerebral ventricles, and lymphatic as well as chylous mesenteric cysts. The Patched (PTCH) gene is responsible for GS when mutated. Here, we report on a prenatal diagnosis of GS in a girl with a chylothorax, a previously unreported feature in GS. We discuss the clinical features observed in this family and we comment on the molecular studies that allowed us to describe a previously unreported Patched gene mutation.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
9/22. Sclerotic fibromas of the skin.We report a case of a 34-year-old Japanese woman with a fibrous tumor on the left palm that fulfilled the criteria of sclerotic fibroma of the skin. Immunohistochemically, the tumor cells were positive for vimentin, but negative for S-100 protein and neuron-specific enolase. Ultrastructurally, the cross-striations of collagen microfibrils were less prominent. Our case supports the concept that sclerotic fibroma of the skin is a distinctive lesion which may represent a hamartoma of the skin.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/22. Calcifying aponeurotic fibroma.The calcifying aponeurotic fibroma is a rare, benign neoplasm that often presents in the palms or soles of young male children. Microscopic examination of this tumor demonstrates atypical fibroblasts, foci of calcification, and patches of chondroid differentiation. The neoplasm's highly cellular architecture, locally aggressive growth pattern, and tendency to recur may lead to a misdiagnosis of fibrosarcoma and subsequent amputation. This manuscript presents a review of the literature and a unique case involving the digits of the foot.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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