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2.
Fetal Diagn Ther ; 45(4): 281-284, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29791897

RESUMO

We report a case of a fetus diagnosed at 28 weeks' gestation with a spontaneous prenatal hemothorax. Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion. The pregnancy was further complicated by recurrence of the hemothorax, with subsequent mediastinal shift, hydrops, and nonreassuring antenatal testing requiring delivery at 31 weeks' gestation. Postnatal workup established the diagnoses of cutis marmorata telangiectatica congenita (CMTC) and pulmonary lymphangiectasia. The child is currently 4 years old and without any active medical issues or sequelae from the CMTC, pulmonary lymphangiectasia, or prenatal interventions.


Assuntos
Hemotórax/diagnóstico por imagem , Dermatopatias Vasculares/diagnóstico , Telangiectasia/congênito , Diagnóstico Diferencial , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Dermatopatias Vasculares/complicações , Telangiectasia/complicações , Telangiectasia/diagnóstico
6.
Trials ; 19(1): 689, 2018 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-30558672

RESUMO

BACKGROUND: Accelerated partial breast irradiation (APBI) is a treatment option for selected early stage breast cancer patients. Some APBI techniques lead to skin toxicity with the skin dose as main risk factor. We hypothesize that a spacer injected between the skin and target volume reduces the skin dose and subsequent toxicity in permanent breast seed implant (PBSI) patients. METHODS: In this parallel-group, single-center, randomized controlled trial, the effect of a subcutaneous spacer injection on skin toxicity among patients treated with PBSI is tested. Eligibility for participation is derived from international guidelines for suitable patients for partial breast radiotherapy, e.g. women aged ≥ 50 years with a histologically proven non-lobular breast carcinoma and/or ductal carcinoma in situ (DCIS), tumor size ≤ 3 cm, node-negative, and PBSI technically feasible. Among exclusion criteria are neoadjuvant chemotherapy, lymphovascular invasion, and allergy for hyaluronic acid. For the patients allocated to receive spacer, after the PBSI procedure, 4-10 cc of biodegradable hyaluronic acid (Barrigel™, Palette Life Sciences, Santa Barbara, CA, USA or Restylane SubQ®, Galderma Benelux, Breda, the Netherlands) is injected directly under the skin using ultrasound guidance to create an extra 0.5-1 cm space between the treatment volume and the skin. The primary outcome is the rate of telangiectasia at two years, blindly assessed using Bentzen's 4-point scale. Secondary outcomes include: local recurrence; disease-free and overall survival rates; adverse events (pain, redness, skin/subcutaneous induration, radiation dermatitis, pigmentation, surgical site infection); skin dose; cosmetic and functional results; and health-related quality of life. A Fisher's exact test will be used to test differences between groups on the primary outcome. Previous studies found 22.4% telangiectasia at two years. We expect the use of a spacer could reduce the occurrence of telangiectasia to 7.7%. A sample size of 230 patients will allow for a 10% lost to follow-up rate. DISCUSSION: In this study, the effect of a subcutaneous spacer injection on the skin dose, late skin toxicity, and cosmetic outcome is tested in patients treated with PBSI in the setting of breast-conserving therapy. Our results will be relevant for most forms of breast brachytherapy as well as robotic radiosurgery, as skin spacers could protect the skin with these other techniques. TRIAL REGISTRATION: Netherlands Trial Register, NTR6549 . Registered on 27 June 2017.


Assuntos
Braquiterapia/métodos , Neoplasias da Mama/radioterapia , Carcinoma Ductal de Mama/radioterapia , Carcinoma Intraductal não Infiltrante/radioterapia , Preenchedores Dérmicos/administração & dosagem , Ácido Hialurônico/análogos & derivados , Radiodermatite/prevenção & controle , Telangiectasia/prevenção & controle , Braquiterapia/efeitos adversos , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Carcinoma Ductal de Mama/patologia , Carcinoma Ductal de Mama/cirurgia , Carcinoma Intraductal não Infiltrante/patologia , Carcinoma Intraductal não Infiltrante/cirurgia , Preenchedores Dérmicos/efeitos adversos , Feminino , Humanos , Ácido Hialurônico/administração & dosagem , Ácido Hialurônico/efeitos adversos , Injeções Subcutâneas , Mastectomia Segmentar , Pessoa de Meia-Idade , Países Baixos , Doses de Radiação , Radiodermatite/diagnóstico , Radiodermatite/etiologia , Radioterapia Adjuvante , Ensaios Clínicos Controlados Aleatórios como Assunto , Telangiectasia/diagnóstico , Telangiectasia/etiologia , Fatores de Tempo , Resultado do Tratamento , Carga Tumoral
7.
Am J Med Genet A ; 176(12): 2824-2828, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30549413

RESUMO

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare disorder caused by autosomal recessive and autosomal dominant mutations in SOX18. This gene encodes a transcription factor involved in the regulation and development of the human vasculature, lymphatic, and integumentary systems. Individuals with HLTS develop varying degrees of hypotrichosis, lymphedema, and telangiectasias. Other complications, such as renal failure and aortic dilation, have also been observed. Here, we report a neonate with a novel mutation in SOX18 (c.541C>T; p.Gln181stop) presenting with cardinal features of HLTS in addition to unique findings of severe chylothorax and relentless pulmonary hypertension that culminated in death. The purpose of this report is to summarize what is known about this evolving genetic syndrome and to speculate as to how mutations in SOX18 might produce the phenotype.


Assuntos
Genes Dominantes , Hipotricose/diagnóstico , Hipotricose/genética , Linfedema/diagnóstico , Linfedema/genética , Mutação , Fatores de Transcrição SOXF/genética , Telangiectasia/diagnóstico , Telangiectasia/genética , Alelos , Éxons , Evolução Fatal , Genótipo , Humanos , Recém-Nascido , Fenótipo
8.
Angiol Sosud Khir ; 24(3): 92-97, 2018.
Artigo em Russo | MEDLINE | ID: mdl-30321152

RESUMO

Compression serves as an important component for carrying out successful and safe phlebosclerosing treatment. At the same time, the necessity of wearing compression hosiery or bandages is associated with known limitations and objections of patients, especially in a hot season. We comparatively assessed efficacy of usual compression stockings and a short-term pneumatic bandage with cryoelements while carrying out sclerosing treatment of dilated intradermal veins. Our open prospective observational study included a total of fifty 18-to-35-year-old women. After performing standardized sclerotherapy of reticular veins and telangiectasias on the symmetrical portions of the lower limbs, a pneumatic cryocompression bandage with a pressure of 50 mmHg was applied onto one of the limbs for 15 minutes, with a class 2 compression (RAL standard) medical stocking put on the other limb to be worn by the patients at daytime for 10 days. We assessed completeness of obliteration of the target veins, frequency of the development of typical undesirable events (ecchymoses, phlebitides, hyperpigmentation and neovasculogenesis), as well as the composite discomfort score according to an 11-point visual analogue scale. It was determined that using the pneumatic bandage with cryoelements as compared with the traditional compression stockings significantly decreased the frequency of the development of typical undesirable events after phlebosclerosing treatment, such as formation of ecchymoses, phlebitides, hyperpigmentation and neovasculogenesis. Significance of differences was revealed as early as 7 days after sclerotherapy, to be increasing during further dynamic follow up. By convenience for the patients, the use of the short-term pneumatic cryobandage was four times better than wearing the compression stockings. A conclusion was drawn that while carrying out sclerotherapy of reticular veins and telangiectasias short-term pneumatic cryocompression by efficacy and safety was not inferior to the traditional medical stockings (RAL standard) and made it possible to significantly decrease the incidence of the known undesirable events after phlebosclerosing treatment.


Assuntos
Crioterapia/métodos , Extremidade Inferior/irrigação sanguínea , Escleroterapia , Meias de Compressão , Telangiectasia/terapia , Varizes/terapia , Adulto , Pesquisa Comparativa da Efetividade , Feminino , Humanos , Projetos Piloto , Escleroterapia/instrumentação , Escleroterapia/métodos , Telangiectasia/diagnóstico , Varizes/diagnóstico , Escala Visual Analógica
9.
Arq Bras Oftalmol ; 81(6): 520-523, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30328942

RESUMO

Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.


Assuntos
Anormalidades do Olho/diagnóstico , Glaucoma/diagnóstico , Síndromes de Tricotiodistrofia/diagnóstico , Criança , Eritema/diagnóstico , Anormalidades do Olho/cirurgia , Glaucoma/cirurgia , Humanos , Pressão Intraocular , Masculino , Telangiectasia/diagnóstico , Trabeculectomia
10.
J. vasc. bras ; 17(4): 341-347, out.-dez. 2018. ilus
Artigo em Português | LILACS | ID: biblio-969241

RESUMO

A escleroterapia continua sendo um dos procedimentos mais executados pelos cirurgiões vasculares brasileiros. O conhecimento das suas complicações é imprescindível para que possamos evitá-las. Os efeitos colaterais graves desse método de tratamento para as telangiectasias dos membros inferiores são raros e frequentemente associados a um erro técnico ou à dosagem injetada. São predominantemente locais, apresentando-se, algumas vezes, como uma situação de difícil resolução. Relatamos um caso de formação de necrose cutânea após escleroterapia química com glicose hipertônica (75%) e sua cicatrização utilizando preparação tópica contendo vaselina e glicose 60%, cujo resultado estético foi satisfatório


Sclerotherapy remains one of the procedures most frequently performed by Brazilian vascular surgeons. Knowledge of its complications is indispensable to enable us to avoid them. The severe side effects of this method of treatment for telangiectasias of the lower limbs are rare and are often associated with technical errors or the dose injected. Complications are predominantly local, but are sometimes difficult to resolve. We report a case of formation of cutaneous necrosis after chemical sclerotherapy using hypertonic glucose (75%), which healed when treated with a topical preparation containing vaseline and 60% glucose, with satisfactory esthetic results


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Telangiectasia/diagnóstico , Glucose , Necrose/complicações , Vaselina/uso terapêutico , Soluções Esclerosantes/uso terapêutico , Úlcera Cutânea/diagnóstico , Úlcera Cutânea/terapia , Varizes/terapia , Cicatrização , Fibrose , Escleroterapia/métodos , Ecocardiografia Doppler em Cores/métodos , Extremidade Inferior , Eritema
13.
Skinmed ; 16(3): 199-200, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29989542

RESUMO

A 78-year-old woman with a history of bilateral hip replacements presented with an ill-defined erythematous plaque with foci of reticulated and indurated areas on the left thigh. Initially, a few weeks after her surgery, a small area of erythema appeared overlying the incision site. Over a 6-month period, the erythema slowly expanded before stabilizing in size (Figure 1). There was no pruritus, pain, or warmth. Orthopedic evaluation found no evidence of infection or malfunction of the hip prosthesis. A skin biopsy revealed telangiectasia of the superficial vessels. Based on the clinical and histopathologic findings, a diagnosis of reticular telangiectatic erythema (RTE) was established. An ultrasound scan revealed a greater trochanteric bursa distended by a chronic, organized hematoma measuring 12 cm at greatest dimension, secondary to a full-thickness tear of the left gluteus minimus (Figure 2), establishing the underlying cause of the RTE in this patient.


Assuntos
Artroplastia de Quadril/efeitos adversos , Eritema/etiologia , Hematoma/etiologia , Complicações Pós-Operatórias/etiologia , Telangiectasia/etiologia , Idoso , Doença Crônica , Eritema/diagnóstico , Eritema/terapia , Feminino , Hematoma/diagnóstico , Hematoma/terapia , Humanos , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/terapia , Telangiectasia/diagnóstico , Telangiectasia/terapia
15.
Dermatol Ther ; 31(4): e12648, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30019363

RESUMO

Poikiloderma is a chronic skin condition affecting middle-age men and women that comprises cutaneous atrophy, telangiectasias, and changes in the pigmentation of the skin usually of mottled appearance (both hyper- and hypopigmentation). There is no specific medical treatment for Poikiloderma of Civatte (PC), but the use of photoprotector/sunscreen + SPF 50 to avoid prolonged sun exposure is highly recommended in these patients. Some authors recommend the use of topical corticoids in early stages; however, the results have not been satisfactory. Multiple topical (retinoids, dimethyl sulfoxide, or calcineurin inhibitors), systemic (cyclophosphamide), and physical (dermabrasion, phototherapy, and fractional photothermolysis) treatments have been described with unequal and inconsistent responses or unsatisfactory. This report underlies the combination of BF-200 ALA and photodynamic therapy (PDT) with positive results at the clinical level: significant improvement of pigmentary changes and telangiectasias after two PDT sessions.


Assuntos
Ácido Aminolevulínico/análogos & derivados , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/administração & dosagem , Transtornos da Pigmentação/tratamento farmacológico , Pigmentação da Pele/efeitos dos fármacos , Pele/efeitos dos fármacos , Telangiectasia/tratamento farmacológico , Ácido Aminolevulínico/administração & dosagem , Atrofia , Feminino , Humanos , Pessoa de Meia-Idade , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/fisiopatologia , Indução de Remissão , Pele/patologia , Pele/fisiopatologia , Telangiectasia/diagnóstico , Resultado do Tratamento
16.
Adv Ther ; 35(7): 1001-1008, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29949043

RESUMO

INTRODUCTION: Sclerotherapy is a common technique for the removal of intradermal veins. This study examined the rationale for prescribing micronized purified flavonoid fraction (MPFF) in clinical, etiological, anatomic, pathophysiologic (CEAP) class C1 patients with dilated intradermal veins scheduled for sclerotherapy. METHODS: In a national, multicenter, observational program, physicians recruited CEAP C1s patients scheduled for sclerotherapy. The decision to prescribe adjuvant MPFF (1000 mg/day for 6 weeks beginning 2 weeks before sclerotherapy) was made according to usual practice. Disease severity and treatment outcomes were assessed at baseline and 4 weeks post-sclerotherapy using a visual analog scale (VAS) as well as quality-of-life (CIVIQ-14) and patient satisfaction (Darvall) questionnaires. RESULTS: A total of 70 physicians recruited 1150 patients: 1071 (93%) women, 79 (7%) men. Mean age (± SD) was 40.7 ± 10.7 years (range 18-74) and mean body mass index was 23.6 ± 3.3 kg/m2. Reticular veins were observed in 42.1% of patients and 57.9% had telangiectasias. MPPF was prescribed to 905 patients (79%). Sclerotherapy was associated with statistically significant decreases in mean VAS scores for leg heaviness, pain, sensation of swelling, night cramps, and itching. For each symptom, MPFF-treated patients showed a more pronounced improvement than those undergoing sclerotherapy alone: mean VAS pain score with MPFF decreased from 1.90 ± 2.30 to 0.30 ± 0.62 versus 1.72 ± 1.93 to 0.52 ± 0.99 with sclerotherapy alone; mean VAS leg heaviness score with MPFF decreased from 2.80 ± 2.43 to 0.47 ± 1.07 versus 2.38 ± 2.23 to 0.76 ± 0.85 with sclerotherapy alone. Patient quality-of-life indicators improved with symptom resolution, particularly pain, and for each indicator the observed improvement was greater with MPFF. The outcomes of treatment exceeded patient expectations. Fewer patients experienced sclerotherapy-induced hyperpigmentation with adjunctive MPFF versus sclerotherapy alone (33.9% versus 41.2%, respectively, P = 0.034). No adverse events related to MPFF were observed. CONCLUSION: Resolution of venous symptoms post-sclerotherapy was greater in patients treated with MPFF compared with those undergoing sclerotherapy alone, supporting the rationale for use of MPFF in patients undergoing sclerotherapy. FUNDING: Servier.


Assuntos
Diosmina/administração & dosagem , Edema , Hesperidina/administração & dosagem , Dor , Qualidade de Vida , Escleroterapia , Telangiectasia/terapia , Administração Oral , Adulto , Doença Crônica , Combinação de Medicamentos , Edema/etiologia , Edema/prevenção & controle , Feminino , Flavonoides/administração & dosagem , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Dor/prevenção & controle , Profilaxia Pré-Exposição/métodos , Escleroterapia/efeitos adversos , Escleroterapia/métodos , Inquéritos e Questionários , Telangiectasia/diagnóstico , Resultado do Tratamento
17.
Pediatr Dermatol ; 35(3): e186-e188, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29493003

RESUMO

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.


Assuntos
Anormalidades Múltiplas/diagnóstico , Classe I de Fosfatidilinositol 3-Quinases/genética , Lipoma/diagnóstico , Megalencefalia/diagnóstico , Anormalidades Musculoesqueléticas/diagnóstico , Nevo/diagnóstico , Dermatopatias Vasculares/diagnóstico , Telangiectasia/congênito , Malformações Vasculares/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/terapia , Sequência de Bases , Broncodilatadores/uso terapêutico , Diagnóstico Diferencial , Nutrição Enteral , Humanos , Imunossupressores/uso terapêutico , Recém-Nascido , Lipoma/genética , Lipoma/terapia , Masculino , Megalencefalia/genética , Megalencefalia/terapia , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/terapia , Mutação , Nevo/genética , Nevo/terapia , Fenótipo , Respiração Artificial/métodos , Sirolimo/uso terapêutico , Dermatopatias Vasculares/genética , Dermatopatias Vasculares/terapia , Telangiectasia/diagnóstico , Telangiectasia/genética , Telangiectasia/terapia , Malformações Vasculares/genética , Malformações Vasculares/terapia
18.
Phlebology ; 33(4): 225-233, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29388868

RESUMO

Objective Telangiectasias of the lower legs are intradermal dilatations of the subpapillary venous plexus, but their pathophysiology and risk factors are still largely unknown. The purpose of this review is to summarize the current knowledge on the pathophysiology and risk factors for telangiectasias. Methods A systematic review of the literature indexed in Medline completed with textbooks and European phlebology journals from the French, Swiss, and German phlebology societies was performed. Results A multitude of risk factors and several pathophysiological hypotheses, such as reflux, arterio-venous micro-shunts, parietal, and connective tissue abnormalities, are described in the literature. The different hypotheses are discussed and put in a clinical perspective, in particular their therapeutic implications for phlebologists. Conclusion In conclusion, pathophysiology and risk factors of telangiectasias are still largely unknown, and a better understanding could improve treatment results and reduce recurrence.


Assuntos
Perna (Membro)/fisiopatologia , Telangiectasia/diagnóstico , Telangiectasia/fisiopatologia , Humanos , Fatores de Risco
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