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At least 1,063 records · Page 59Linked to original sources
PubMed2004

Cutis marmorata telangiectatica congenita.

Cutis marmorata telangiectatica congenita is an uncommon vascular malformation composed of capillary and venous sized vessels. It presents with a distinct reticulated pattern that is reminiscent of physiologic cutis marmorata however skin lesions do not resolve with warming of the skin surface. It may have a localized or generalized pattern on the skin. Associated anomalies occur in individuals with cutis marmorata telangiectatica congenita the most commonly reported are limb asymmetry and the coexistence of other vascular birthmarks. Adams Oliver Syndrome and cutis marmorata telangiectatica congenital-macrocephaly syndrome are rare disorders that are associated with cutis marmorata telangiectatica congenita.

Diagnosis, Differential↗
PubMed2004

Rendu-Osler-Weber disease with a giant intracerebral varix secondary to a high-flow pial AVF: case report.

BACKGROUND: Intracranial varices are rare and most are associated with vein of Galen arteriovenous malformations (AVM) or fistulas (AVF). DESCRIPTION: A 43-year-old left-handed man presented with right hemihypesthesia and spastic gait. Neuroradiological examination revealed a spinal AVF and a giant intracerebral varix associated with a high-flow pial AVF. He had recurrent episodes of nasal bleeding, which were also confirmed in his mother's medical history, and telangiectases in the tip of his tongue and fingers. He was diagnosed with Rendu-Osler-Weber disease. After resection of the spinal AVF that produced his symptoms, we surgically exposed and obliterated the giant varix and AVF under intra- and postoperative hypotension and mild barbiturate therapy. The arteriovenous shunt was completely obliterated without hyperperfusion of the surrounding brain. CONCLUSION: This is an extremely rare case of Rendu-Osler-Weber disease with a giant intracerebral varix secondary to a high-flow pial AVF that did not involve the vein of Galen.

Adult↗
PubMed2006

[Post-radiotherapy telangiectasias. Treatment with pulsed-dye laser. Sequential histological studies].

Chronic radiodermatitis after radiotherapy is a frequent sequela that may be worrying for the patient. Few cases have been published in the literature in which pulsed-dye laser has been used in the treatment of telangiectasias that appeared after radiotherapy for breast cancer. We present a female patient with radiodermatitis on the neck after radiotherapy for nasopharyngeal carcinoma. The patient received five sessions of pulsed-dye laser treatment (3 ms pulse duration, 7 mm spot size, fluence between 7 and 12 J/cm 2). Sequential histological studies were performed. The response to treatment was very good, with the lesions almost completely disappearing. The patient was very satisfied with the result. Pulsed-dye laser is a safe and effective treatment for chronic radiodermatitis of the neck after radiotherapy.

Female↗
PubMed2001

Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture.

PURPOSE: The purpose of this report is to review the clinical variations and natural course of Coats disease, using strict diagnostic guidelines. METHODS: In a retrospective, consecutive series, Coats disease was defined as idiopathic retinal telangiectasia with intraretinal or subretinal exudation without appreciable signs of retinal or vitreal traction. We reviewed our experience with the clinical features, complications, and diagnostic approaches to Coats disease. RESULTS: In 150 consecutive patients (158 eyes), Coats disease was diagnosed at a median age of 5 years (range, 1 month to 63 years), occurred in 114 males (76%), and was unilateral in 142 patients (95%). There was no predilection for race or laterality. The most common referral diagnoses were Coats disease in 64 cases (41%) and retinoblastoma in 43 (27%). The first symptom or sign was decreased visual acuity in 68 cases (34%), strabismus in 37 (23%), leukocoria in 31 (20%), and 13 patients (8%) were asymptomatic. Visual acuity at presentation was 20/200 to no light perception in 121 eyes (76%). The anterior segment was normal in 142 eyes (90%). The retinal telangiectasia involved the midperipheral or peripheral fundus in 156 of the 158 eyes (99%) and was restricted to the macular area in two eyes (1%); involved mainly the temporal fundus in 66 eyes (42%), inferior fundus in 41 eyes (26%), and more than one sector in 34 eyes (22%). Retinal exudation was present in all 12 clock hours in 86 eyes (55%) and six or more clock hours in 115 eyes (73%). There was a total retinal detachment in 74 eyes (47%) and neovascular glaucoma in 12 (8%). Retinal macrocysts were present in 18 eyes (11%), a vasoproliferative tumor in nine eyes (6%) and retinal neovascularization in four eyes (3%). Fluorescein angiography in 49 of the 158 eyes (37%) disclosed early hyperfluorescence of the telangiectasias and macular edema in 18 of eyes (37%). Ultrasonography typically showed a retinal detachment but no solid mass. CONCLUSIONS: Coats disease is a distinct clinical entity characterized by idiopathic retinal telangiectasia and retinal exudation. It is usually unilateral, occurs mostly in young males, and can cause severe visual loss resulting from exudative retinal detachment. The clinician should follow strict criteria in making the diagnosis, to avoid confusing Coats disease with other forms of exudative retinopathy.

Adolescent↗
PubMed2001

Classification and management of Coats disease: the 2000 Proctor Lecture.

PURPOSE: To review the methods and results of management in a large series of patients with Coats disease, to determine risk factors for poor visual outcome and enucleation, and to propose a practical classification of Coats disease. METHODS: In a retrospective consecutive series in 150 patients, Coats disease was defined as idiopathic retinal telangiectasia with intraretinal or subretinal exudation without appreciable signs of retinal or vitreal traction. We reviewed our experience with management, including observation, laser photocoagulation, cryotherapy, and various techniques of retinal detachment surgery and enucleation. The anatomic outcome, complications of treatment, visual results, and reasons for enucleation were tabulated. Factors predictive of poor visual outcome (20/200 or worse) and enucleation were determined using Cox proportional hazards regression models. Based on these observations, a staging classification of Coats disease, applicable to treatment selection and ocular prognosis, is proposed. RESULTS: In 117 patients (124 eyes) with a mean follow up of 55 months (range, 6 months to 25 years) primary management was observation in 22 eyes (18%), cryotherapy in 52 (42%), laser photocoagulation in 16 (13%), various methods of retinal detachment surgery in 20 (17%), and enucleation in 14 (11%). Anatomic improvement or stability was achieved in 76% of eyes, and final visual acuity was 20/50 or better in 17 eyes (14%), 20/60 to 20/100 in eight (6%), 20/200 to finger counting in 30 (24%), and hand motion to no light perception in 49 (40%) Enucleation was ultimately necessary in 20 eyes (16%). Risk factors predictive of poor visual outcome (20/200 or worse) included postequatorial (P =.01), diffuse (P =.01), or superior (P =.04) location of the telangiectasias and exudation, failed resolution of subretinal fluid after treatment (P =.02), and presence of retinal macrocysts (P =.02). The main risk factors for enucleation were elevated intraocular pressure (greater than 22 mm Hg; P less than or equal to.001) and iris neovascularization (P less than or equal to.001). Coats disease was classified into stage 1, telangiectasia only; stage 2, telangiectasia and exudation (2A, extrafoveal exudation; 2B, foveal exudation) stage 3, exudative retinal detachment (3A, subtotal; 3B, total); stage 4, total detachment and secondary glaucoma; and stage 5, advanced end-stage disease. Poor visual outcome (20/200 or worse) was found in 0% of eyes with stage 1, 53% with stage 2, 74% with stage 3, and 100% of stages 4 and 5 Coats disease. Enucleation was ultimately necessary in 0% of stages 1 and 2, 7% of stage 3, 78% of stage 4, and 0% of stage 5 disease. CONCLUSIONS: Carefully selected treatment can anatomically stabilize or improve the eye with Coats disease in 76% of eyes. However, poor visual outcome of 20/200 or worse commonly results. Patients who present with stages 1 to 3 Coats disease have the best visual prognosis, and patients with stages 4 and 5 have a poor visual prognosis.

Cryosurgery↗
PubMed1997

Coats-type retinitis pigmentosa in a 4-year-old child.

PURPOSE: To describe the occurrence of Coats-like exudative retinopathy secondary to underlying retinitis pigmentosa in a 4-year-old child. METHOD: Case report. RESULTS: A 4-year-old girl had bilateral exudative retinal telangiectasia requiring photocoagulation. She subsequently developed progressive nyctalopia, photophobia, and reduced peripheral vision. Electroretinography and dark adaptometry at age 8 years confirmed the diagnosis of retinitis pigmentosa. CONCLUSIONS: Coats-like exudative retinopathy secondary to retinitis pigmentosa can manifest as early as age 4 years and can precede the diagnosis of the underlying retinal dystrophy.

Child, Preschool↗
PubMed1981

Tractional venous loops in diabetic retinopathy.

A venous loop developed in a patient with proliferative diabetic retinopathy. Fluorescein angiography showed staining of the vessel wall and nonperfusion of the surrounding capillary bed. Light microscopy and scanning and transmission electron microscopy showed the loop to consist of a telangiectatic retinal vein that had passed through a discontinuity in the internal limiting membrane. The thin-walled vessel loop was lined by an attenuated endothelium and occasional pericytes. The vitreous was detached posteriorly except at the venous loop and a few other points at which there was tenting of the internal limiting membrane. These findings suggested that vitreous traction plays a role in the pathogenesis of these venous loops.

Aged↗
PubMed2002

First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita.

OBJECTIVE: To describe the convergence of five rare phenotypic features in a woman with premature ovarian failure referred for reproductive endocrinology evaluation. DESIGN: Case report and literature review. SETTING: Major urban infertility referral center. PATIENT(S): A 24-year-old nulligravida with cutis marmorata telangiectatica congenita (CMTC), premature ovarian failure, unilateral ovarian agenesis, septate uterus, and de novo balanced autosomal translocation. INTERVENTION(S): High-resolution chromosomal evaluation, radiographic study of reproductive organs, and assessment of endogenous estrogen production. MAIN OUTCOME MEASURE: Patient counseling regarding future reproductive options (i.e., donor oocyte in vitro fertilization/embryo transfer), and satisfactory management of hypoestrogenism using oral contraceptives. RESULT(S): We identified a balanced reciprocal translocation 46,XX t(8;9)(q22.1;p24.1), and confirmed unilateral ovarian agenesis with midline intrauterine septum. CONCLUSION(S): Although genetic factors considered contributory to premature ovarian failure usually involve the X chromosome, in our patient a previously undescribed autosomal translocation was identified in association with CMTC, a rare vascular disorder. The fundamental role of follicular oxygenation in oocyte competence and subsequent ovarian function is discussed. From the clinical and laboratory findings evident in this unusual case, a developmental hypothesis connecting the vascular abnormalities of CMTC and premature ovarian failure is offered.

Abnormalities, Multiple↗