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Query: UMLS:C0042373 (vascular disease)
 17,070 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder of the skin, characterized by persistent telangiectasia of the cutaneous blood vessels often associated with cutaneous ulcers. The only previously recognized ophthalmic association with this condition has been rare instances of unilateral congenital open angle glaucoma. The authors report their observations in a child in whom this cutaneous disorder was associated with congenital bilateral total retinal detachments and secondary neovascular glaucoma. The retinal detachments produced bilateral leukocoria simulating retinoblastoma. The cutaneous disorder and the ocular findings were confirmed histopathologically.
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PMID:Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment. 220 94

Cutis marmorata telangiectatica congenita is an uncommon cutaneous vascular disorder characterized by persistent cutis marmorata, telangiectases, and phlebectases. In addition to atrophic and/or ulcerated lesions, other vascular conditions may be observed. Cutis marmorata telangiectasia congenita usually occurs sporadically, typically is present at birth, and predominantly affects girls. Various associated congenital anomalies have been reported in approximately half of the patients with this condition.
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PMID:Cutis marmorata telangiectatica congenita: clinicopathologic characteristics and differential diagnosis. 322 41

Cutis marmorata telangiectatica congenita (CMTC) is characterized by a persistent vascular mottling of the skin, usually on the limbs. Four cases (2 males and 2 females) followed up for varying lengths of time are reported. In the first patient, whose vascular lesions were mild, careful re-examination after 10 years revealed some scars. In the second patient the lesions were located on the right side of the body, notably on the leg; 6 years later atrophic scars and a brownish plaque were visible on that leg. In the third patient the lesions occupied almost the entire body, although one side was more affected than the other and hypotrophic; the child's face was asymmetrical because of hypoplasia of the jaw and curvature of the nose; after 1 year the patient's general condition was satisfactory and the skin lesions were less evident but still present. In the fourth patient hypoplasia of a lumbar vertebra was discovered; the skin lesions were similar to those observed in the third patient. Examination of the deep vessels, performed whenever possible, did not show any abnormality, but the possibility of future vascular defects, such as varicosities, must be considered. While some authors emphasize the functional character of the disease, in our opinion the high frequency of multiple associated congenital abnormalities makes CMTC not only a vascular disorder but also a syndrome including other neuroectodermal and mesodermal defects. Therefore, any patient presenting with the cutaneous changes typical of CMTC should be examined with this in mind.
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PMID:[Cutis marmorata telangiectatica congenita. 4 new cases and review of the literature]. 332 46

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disorder that was first described in 1922 by Van Lohuizen (1). The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations. The disorder shows slow clinical improvement over time. Previously, CMTC has also been described as congenital generalized phlebectasia (2-7), congenital phlebectasia (8), nevus vascularis reticularis (9), congenital livedo reticularis (10), and livedo telangiectatica (11). The following is a case report.
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PMID:Cutis marmorata telangiectatica congenita: a case report. 649 67

Cutis marmorata teleangiectatica congenita (CMTC) is a rare congenital vascular disorder of the venous system. In 50% of cases there are associated anomalies of other organ systems. Clinical improvement of the cutaneous manifestations is noted in most cases and usually occurs during the first year of life. We present a patient with CMTC with a band-like pattern following the L3 dermatome. At the age of 13 years, the skin manifestations worsened, with ulcerations and intermittent claudication. Angiographic imaging revealed stenosis of the deep femoral artery, and the circumflex femoral artery and the first perforating arteries were not visualized. To our knowledge, this is the first reported case of CMTC with anomalies of the large arteries.
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PMID:[Arterial occlusion in cutis marmorata teleangiectatica congenita]. 787 69

A term male neonate had an uncommon congenital vascular disorder of the skin covering the whole body and extremities. These skin lesions were characterized by mottling and persistent telangiectasia. A skin biopsy showed nevus vascularis reticularis which was recognized as cutis marmorata telangiectatica congenita. In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye. Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage. Cutis marmorata telangiectatica congenita may be solitary but is frequently associated with other developmental defects. However, the specific findings of cerebral and ophthalmic lesions in our case were rather unusual.
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PMID:Cutis marmorata telangiectatica congenita with cerebral and ophthalmic anomalies: report of one case. 906 94

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disease presenting at birth with levido reticularis, phlebectasia, and telangiectasia, often accompanied by skin ulcerations. Extra-dermal vascular anomalies can be also detected in 30-70% of described cases. The pathomechanism responsible for development of these phenotypic changes is not well understood. Here, we report on a 16-month-old boy with CMTC, generalized vascular abnormalities and severe, nitric oxide sensitive, pulmonary hypertension associating with markedly elevated level of blood copper. Results of laboratory investigations indicated that primary cultures (passage one) of dermal fibroblasts derived from this patient were capable of normal synthesis of tropoelastin, but their net deposition of mature elastic fibers was significantly diminished as compared with cultures of normal fibroblasts. Because the low net deposition of elastin was reversed when 1 mg/ml of alpha1-antitrypsin was added to the media, we conclude that heightened elastolysis by endogenous serine proteinase's is responsible for the low net elastogenesis by CMTC fibroblasts. Since simultaneous addition of 30 microM CuSO(4) and 1 mg/ml alpha1-antitrypsin abolished the beneficial effect of this serine proteinase's inhibitor, we concluded that this may be due to copper-dependent inactivation of alpha1-antitrypsin. Our data suggest that a high level of free copper may constitute a major triggering factor contributing to the development of the CMTC phenotype.
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PMID:High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. 1879 71

Cutis marmorata telangiectatica congenita is a well-characterized cutaneous vascular disorder with variable and rare ocular involvement. It has been reported in association with glaucoma, bilateral congenital retinal detachments, bilateral tractional retinal detachments secondary to proliferative vitreoretinopathy, and retinoblastoma. This case demonstrates novel findings of bilateral peripheral retinal vascular abnormalities and retinal nonperfusion on fluorescein angiography without retinal detachment that have not previously been described in cutis marmorata telangiectatica congenita. Laser photocoagulation was applied to areas of retinal nonperfusion with stability in the retinal pathology at follow-up examination 3 months later.
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PMID:Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. 2375 22

Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations.
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PMID:Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases. 3249 Sep 82

Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, vascular disorder that may sometimes be associated with ulcerations of the involved skin. We present a case of CMTC, asymptomatic since birth, that began developing painful ulcerations during adolescence. Although laser therapy may benefit the superficial aspect of this vascular anomaly, the presence of deeper involvement in lesions with ulcerations may not respond favorably to laser therapy and the best approach needs to be further evaluated.
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PMID:Cutis marmorata telangiectasia congenita with painful ulcerations. 3281 97


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