11/19. Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines, and spindle cell tumors. Report of a kindred.In a family encompassing three generations, six of 11 evaluated members have two or three elements of a triad comprising adrenocortical micronodular dysplasia, mucocutaneous lentigines, and cardiac myxomas. Evaluation of the adrenals in affected members revealed characteristic pathologic lesions of micronodular adrenal hyperplasia and corticotropin-independent steroidogenesis that correlated with age, suggesting a progressive lesion that begins in early childhood. Since all subjects with micronodular hyperplasia and/or cardiac myxomas also had mucocutaneous lentigines, the skin lesions were markers for affected subjects. This family is one of the larger reported with this syndrome. Of special note was the finding of rare visceral tumors in affected family members, including melanocytic schwannomas and a fibrolamellar hepatoma, signaling another feature of the syndrome. Since 60% of this family encompassing three contiguous generations were affected, the syndrome appears to be inherited as an autosomal or X-linked dominant gene.- - - - - - - - - - ranking = 1keywords = spindle (Clic here for more details about this article) |
12/19. Inheritance and the pigmentary dispersion syndrome.The authors studied 33 patients in five families and have found that 14 of these patients fulfill criteria for the pigmentary dispersion syndrome. Affected patients had characteristics associated with the pigmentary dispersion syndrome, which are: peripheral slit-like iris transillumination defects, increased trabecular meshwork pigmentation, Krukenberg spindle, myopia, and elevated intraocular pressure. The authors observed this syndrome to be transmitted in a direct linear manner from parent to sibling in three of the four families. The transmission of this syndrome was found to be independent of refractive error, iris color, and sexual predilection, all of which are presented.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
13/19. Nonprogressive low-tension glaucoma with pigmentary dispersion.Four patients with nonprogressive glaucomatous cupping and nonprogressive visual field damage, three of whom were referred with a diagnosis of low-tension glaucoma, were found to have slit-like radial peripheral iris transillumination defects. Three of these patients had Krukenberg spindles and dense pigmentation of the trabecular meshwork. These findings are considered pathognomonic for pigmentary glaucoma. Little is known of the natural course of this disease. A decrease in corneal and trabecular pigmentation with age and normalization of intraocular pressures after years of treatment have been noted. The patients described here were all much older than the average patient with pigmentary glaucoma, yet in none of them had a diagnosis of glaucoma been made at the time the damage presumably developed. In these patients the pigmentary glaucoma had probably remitted spontaneously.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
14/19. Multiple halo neurofibromas.The second case of multiple halo neurofibromatosis is reported. Halo neurofibromas are rare benign tumors that appear on the neck and trunk of adults. The clinical and histopathological differential diagnosis of the other neuroectodermally derived halo lesions, such as neural nevus, nevocellular nevus, spindle and epitheloid cell nevus, blue nevus, and malignant melanoma, also is considered. An autoimmune hypothesis is proposed to explain the depigmentation in the halo neurofibroma. The fact that the patient has cafe au lait spots that contain giant pigment granules probably indicates that he also has neurofibromatosis.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
15/19. Acquired dermal melanocytosis of the hand: a new clinical type of dermal melanocytosis.We report a 22-year-old man with acquired dermal melanocytosis on the hand which developed without any history of previous inflammation. He had no history of contact with or oral administration of any drugs or metals which might have caused pigmentation. Histopathologically, spindle-shaped dermal melanocytes were observed running parallel to the collagen bundles and scattered in all portions of the dermis. The dopa reaction of these cells was positive. Ultrastructurally, dermal melanocytes containing numerous melanosomes (stages II to IV) which were surrounded by the extracellular sheath were observed. Differential diagnosis of other dermal melanocytosis was discussed.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
16/19. Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases.Two cases are described which presented with diffuse swelling of one cheek and hypertrophy of the underlying maxilla and mandible. Both children developed verrucous pigmented streaks over the area of swelling, and had epilepsy and severe mental subnormality. One of the children had a contralateral hemiplegia and his condition had a progressive course. The other child had no focal neurological signs and his disease seemed to be non-progressive. Although the facial appearance of both children suggested the diagnosis of encephalocrainiocutaneous lipomatosis syndrome, it was not possible to demonstrate the presence of any lipomata in either case. The literature relating to encephalocraniocutaneous lipomatosis is reviewed, as well as that relating to the syndromes of naevus unius lateris, the proteus syndrome and the syndrome of cranial hemihypertrophy, and the clinical features of our two cases are compared with the features of these four syndromes.- - - - - - - - - - ranking = 27.293254024616keywords = naevus (Clic here for more details about this article) |
17/19. Psammomatous melanotic schwannoma. A new cutaneous marker for Carney's complex.BACKGROUND--Noncutaneous psammomatous melanotic schwannoma has recently been reported as an unusual component of Carney's complex (myxomas, spotty pigmentation, and endocrinopathy). The most common locations for this lesion include peripheral nerve roots and the gastrointestinal tract. OBSERVATIONS--A cutaneous psammomatous melanotic schwannoma is reported in a patient with known Carney's complex. This neoplasm was pseudoencapsulated, with epithelioid to spindle-shaped cells and no nuclear atypia. Immunostaining was positive for S100 protein and vimentin, as well for HMB-45 antibody. Electron microscopy showed melanosomes in cytoplasmic processes of cells that were ensheathed by layers of reduplicated basal lamina. CONCLUSIONS--Location in the superficial soft tissues is extremely unusual for psammomatous melanotic schwannomas. Recognition of this new cutaneous marker as a part of this complex may aid in identification of individuals at risk for cardiac myxomas. It is also important that this lesion is not mistaken for melanoma, given the strong HMB-45 positivity.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
18/19. Dermal melanocytosis: a clinical spectrum.While most dermal melanocytoses are congenital or have an onset in early childhood, there is a group which is clearly acquired, with an onset in adult life. While the mongolian spot typically disappears in childhood, other dermal melanocytoses persist for life. A brief review of the clinical spectrum of the dermal melanocytoses is undertaken and three illustrative cases are described: a case of congenital naevus of Ota, a case of acquired bilateral naevus of Ota-like macules, and an unusual case of a congenital dermal melanocytotic lesion on the left had which began to spread in adulthood. The possibilities regarding the pathogenesis of this intriguing group of disorders are considered.- - - - - - - - - - ranking = 54.586508049231keywords = naevus (Clic here for more details about this article) |
19/19. Psammomatous melanotic schwannoma of a spinal nerve root. Relationship with the carney complex.A 36-year-old man had an oval, black, extradural tumor partly removed from the left C4 spinal root, with total removal 4 months later. In both specimens, most tumor cells were spindle-shaped. A few cells were large, epithelioid-like, with a prominent nucleolus. Mitoses were rarely seen. Many tumor cells contained coarse or fine granules of a brown pigment. Such cells were immunopositive for S-100 protein and HMB-45. Additionally, psammoma bodies were numerous in certain areas, indicating a diagnosis of psammomatous melanotic schwannoma (PMS). Periumbilical spotty pigmentation was found in the patient and in six of his siblings and their mother. The search for cardiac myxoma and endocrine overactivity was negative in the patient. Features of Carney's complex must be sought in a patient with PMS and in their primary relatives. So far, more than 150 patients and seven families with Carney's complex have been reported.- - - - - - - - - - ranking = 0.25keywords = spindle (Clic here for more details about this article) |
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