Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cobb syndrome consists of a vascular skin nevus associated with an angioma in the spinal cord. We describe a young man with this condition. To our knowledge, this is the 28th case reported. Cobb syndrome must be differentiated from other syndromes characterized by vascular cutaneous lesions associated with central nervous system abnormalities, such as Sturge-Weber, Osler-Weber-Rendu, Fabry-Anderson, von Hippel-Lindau, and ataxia telangiectasia.
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PMID:Cobb syndrome. 93 2

The cutaneous microvasculature is organized into upper and lower horizontal plexuses with the dermal capillary loops arising from the upper plexus. The arteriolar and venular sides of the microvasculature can be identified by the ultrastructure of the mural basement membrane material. Collecting venules present in the lower dermis contain valves. Periadventitial cells (veil cells) are present around all microvessels. Their size and number appear to correlate with the quantity of mural basement membrane material found in cutaneous vessels in diabetes, actinic damage, and chronological aging. The contractile cells of the vascular wall surround the endothelial cell tube in a manner suggesting specific functions. The smooth muscle cells in the arteriolar segment form a sleeve, whereas each pericyte in the postcapillary venular simultaneously makes many contacts with several underlying endothelial cells. The common telangiectases can be explained by abnormalities in this organization and ultrastructure rather than by neovascularization or random anastomoses. The macular telangiectases seen in scleroderma, generalized essential telangiectasia, and nevus flammeus are produced by dilatation of the postcapillary venules of the upper horizontal plexus. Cherry angiomas are produced by spherical and tubular dilatations of capillary loops in dermal papillae with tortuous cross-connections between individual loops. Angiokeratomas of Fabry and Fordyce have the ultrastructure of collecting venules that contain valves, and appear to represent the ectopic development or placement of small valve-containing collecting veins. The cutaneous lesions of hereditary hemorrhagic telangiectasia represent arteriovenous communications.
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PMID:Ultrastructure and organization of the cutaneous microvasculature in normal and pathologic states. 266 19

Cutaneous vascular abnormalities are a feature of many syndromes with multisystemic involvement. The most common associations are hypertrophy of underlying soft tissue and bone, as in the Klippel-Trenaunay-Weber and Sturge-Weber syndromes, visceral vascular lesions with hemorrhage, as in hereditary hemorrhagic telangiectasia and blue rubber bleb nevus syndrome, and neurologic alterations, as in Fabry's disease, ataxia-telangiectasia, and the Sturge-Weber syndrome.
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PMID:Vascular disorders. 303 May 94

Eight types of telangiectases were studied by light and electron microscopy and by 3-dimensional reconstruction from photomicrographs. Five were macular: mat telangiectasia of scleroderma, generalized essential telangiectasia, nevus flammeus, and 2 macular types not previously described. Three were papular: cherry angioma, angiokeratoma (Fabry), and angiokeratoma (Fordyce). The macular telangiectases were produced by dilatation of postcapillary venules of the upper horizontal plexus. There was no evidence of neovascularization or vascular malformation. The walls of the dilated venules were thickened by the peripheral deposition of basement membrane-like material admixed with reticulin fibers. The ultrastructure and configuration of the papular telangiectases were different. The cherry angioma was produced by spherical and tubular dilatations of capillary loops in dermal papillae. Each abnormally dilated loop was connected to the neighboring loop or loops by tortuous vascular channels. The vessels in the upper horizontal plexus were not involved. Ultrastructurally, the cherry angiomas were composed of both venous capillaries and postcapillary venules whose walls were thickened in a manner identical to that observed in the macular telangiectases. The angiokeratomas of Fabry and Fordyce were also produced by vascular abnormalities predominantly involving the dermal papillae. Ultrastructurally these vessels were similar to the small collecting veins which are normally found at the dermal-subcutaneous interface. Thus, the papular telangiectases also arose by alterations of the existing microvasculature rather than by proliferation of new vessels with random anastomoses. Reconstruction of the upper horizontal plexus from normal skin showed an undulating network of arterioles and their accompanying postcapillary venules. A 3-layered plexus arranged as venules, arterioles, and venules was not found.
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PMID:Ultrastructure and three-dimensional reconstruction of several macular and papular telangiectases. 641 47

There are several syndromes in which neurological and cutaneous alterations of vascular origin, among other symptoms, occur. The key point of this fact is that these cutaneous signs permit early diagnosis, thus helping in further recognition of more complex syndromes and preventing unnecessary, harmful and costly diagnostic procedures or having to wait until the appearance of neurological signs. Therefore, these diseases should be classified attending to the most notorious vascular lesions they show, though they may show other less frequent cutaneous vascular lesions. In this way, these syndromes can be classified as associated with nevus flammeus (Sturge-Weber, Shapiro-Shulman, Bonnet-Dechaume-Blanc, Cobb, Klippel-Trenaunay, Fegeler, Robert), cavernous hemangiomas (Maffucci, blue-rubber-bleb-nevus, Proteus, Bannayan-Zonana, Riley-Smith, familial cavernous angiomatosis, POEMS syndrome), capillary hemangiomas (Rubinstein-Tayabi, Coffin-Siris, PHACE syndrome), telangiectasia (congenital telangiectatic cutis marmorata, Rendu-Osler-Weber, ataxia telangiectasia, Cockayne, De Sanctis-Cacchione), livedo reticularis (Sneddon, Divry-van-Bogaert), angioqueratoma (Fabry disease, Fucosidosis) and hemangioblastoma (Von Hippel-Lindau). Though we have tried that these vascular lesions should be named as angiomas if they are malformations and hemangiomas if they are benign neoplasias, they are called following morphological aspects rather than other criteria, due to their unknown origin.
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PMID:[Neurocutaneous syndromes with vascular alterations]. 927 70

A hybrid fs/ps pure-rotational CARS scheme is characterized in furnace-heated air at temperatures from 290 to 800 K. Impulsive femtosecond excitation is used to prepare a rotational Raman coherence that is probed with a ps-duration beam generated from an initially broadband fs pulse that is bandwidth limited using air-spaced Fabry-Perot etalons. CARS spectra are generated using 1.5- and 7.0-ps duration probe beams with corresponding coarse and narrow spectral widths. The spectra are fitted using a simple phenomenological model for both shot-averaged and single-shot measurements of temperature and oxygen mole fraction. Our single-shot temperature measurements exhibit high levels of precision and accuracy when the spectrally coarse 1.5-ps probe beam is used, demonstrating that high spectral resolution is not required for thermometry. An initial assessment of concentration measurements in air is also provided, with best results obtained using the higher resolution 7.0-ps probe. This systematic assessment of the hybrid CARS technique demonstrates its utility for practical application in low-temperature gas-phase systems.
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PMID:Hybrid femtosecond/picosecond rotational coherent anti-Stokes Raman scattering temperature and concentration measurements using two different picosecond-duration probes. 2373 51