Síndrome de Peutz-Jeghers, telangiectasias y prolapso de la válvula mitral. Presentación de caso y asesoramiento genético / Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)

Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease / Tricotiodistrofia: relato de caso de glaucoma infantil associado a doença sistémica não adquirida

ABSTRACT 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.

RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.

Glicose como causa e tratamento de necrose cutânea / Glucose as a cause of and treatment for cutaneous necrosis

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

Osteosarcoma telangiectásico en un lactante / Telangiectatic osteosarcoma in an infant

Resumen: Introducción: El osteosarcoma es uno de los tipos de cáncer más común en la etapa escolar y en la adolescencia, y es el más común de los tumores óseos malignos en este grupo de edad. Frecuentemente, el osteosarcoma es hallado en los huesos largos de las extremidades. Existen muy pocos casos descritos en menores de 5 años. Hasta donde se sabe, no hay ningún caso reportado en lactantes. La variedad telangiectásica es poco común y no existen casos reportados antes de la edad preescolar. Caso clínico: Se presenta el caso clínico de una paciente lactante de 10 meses de edad que presentó un tumor lítico en la novena costilla derecha, que posterior a la resección fue clasificado como osteosarcoma telangiectásico. Conclusiones: El osteosarcoma telangiectásico en la edad pediátrica es poco común. A la fecha, la paciente ha presentado buena respuesta al tratamiento, aunque se desconoce el pronóstico y la supervivencia de este padecimiento.

Abstract: Background: Osteosarcoma is one of the most common types of cancer in childhood and adolescence and it is the most common malignant bone tumor in this group of age. Osteosarcoma is frequently found in long bones of the extremities. There are very few cases described in children under 5 years of age, and according to this review, none in infants. The telangiectatic variant is uncommon, and there are no reported cases before preschool age. Case report: A 10-month-old female infant with a lithic tumor of the ninth right rib, which was classified after resection as a telangiectatic osteosarcoma, is presented. Conclusions: Telangiectatic osteosarcoma in the pediatric age is very uncommon. To date, the patient has presented good response to treatment, although the prognosis and survival of this condition is unknown.

Telangiectasia macular eruptiva perstans: reporte de caso y revisión de la literatura / Telangiectasia macularis eruptiva perstans: case report and literature review

La Telangiectasia Macular Eruptiva Perstans (TMEP), forma infrecuente de mastocitosis cutánea consiste en la proliferación anormal de mastocitos en dermis papilar sin participación de otros órganos. Afecta mayormente a adultos, con algunos informes en niños. Típicamente, las lesiones de TMEP son máculas eritematosas con finas telangiectasias, distribuidas principalmente en tronco y extremidades superiores con un patrón simétrico, puede presentar afectación sistémica o asociarse con neoplasias linfoproliferativas. Se presentan dos casos de TMEP en una mujer de 32 años cuyo inicio coincidió con su primera gestación y el de una mujer de 55 años, ambas sin síntomas sistémicos, se discute la presentación clínica, histopatología y tratamiento.

Macular telangiectasia eruptiva perstans (TMEP), an uncommon form of cutaneous mastocytosis, consists in the abnormal proliferation of mast cells in the papillary dermis without the participation of other organs. It affects almost exclusively adults, with some reports in children. Typically, TMEP lesions are erythematous macules with fine telangiectasias, distributed mainly in the trunk and upper limbs with a symmetrical pattern, may present systemic involvement or be associated with lymphoproliferative neoplasms. We present two cases of TMEP in a 32-year-old woman whose onset coincided with her first pregnancy and that of a 55-yearold woman, both without systemic symptoms, whose clinical presentation, histopathology and treatment are discussed.

Piel marmórea telangiectasica congenita y sindactilia en un recién nacido prematuro: A proposito de un caso / Congenital cutis marmorata telangiectatica and syndactyly in a preterm: Case report

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

Intravitreal bevacizumab therapy for idiophatic juxtafoveolar retinal telangiectasis associated with serous macular detachment / Tratamento com injeção intravítrea de bevacizumabe para telangiectasia justafoveolar idiopática associada a descolamento seroso macular

The authors describe a 50-year-old woman with group 2 juxtafoveolar retinal telangiectasis and macular detachment treated with a single-dose of intravitreous bevacizumab injection. There was an improvement in her visual acuity, with a decrease in retinal thickness showed by the optical coherence tomography and fluorescein leakage in the angiography on follow-up visits. No adverse events were observed as a result of the treatment used. After one year of follow-up, the vision remained stable and macular detachment did not recur.

Os autores descrevem uma paciente do sexo feminino com 50 anos de idade portadora de telangiectasia justafoveolar idiopática tipo 2, associada a descolamento macular e tratada com injeção intravítrea de bevacizumabe, dose única. Houve uma melhora da acuidade visual com diminuição da espessura retiniana documentada por tomografia de coerência óptica e angiografia fluoresceínica durante seu acompanhamento. Não observou-se efeitos adversos em consequência do tratamento. Após um ano de acompanhamento, sua visão permaneceu estável e o descolamento macular não recorreu.

Clinical Features of Idiopathic Juxtafoveal Telangiectasis in Koreans

PURPOSE: To describe the clinical characteristics of idiopathic juxtafoveal telangiectasis (IJT) in Koreans. METHODS: Medical records of 16 patients with IJT were analyzed during the period from 1997 to 2009. Diagnosis was based on biomicrosopic and fluorescein angiographic findings and the group was determined according to the Gass and Blodi classification. RESULTS: We analyzed eight patients in group 1A (50%), two in group 1B (12.5%), and six in group 2A (37.5%). Diverse treatment modalities, such as macular laser photocoagulation, photodynamic therapy, intravitreal antiangiogenic agent, and steroid injection, were applied for macular edema in nine eyes; however, only two eyes showed visual improvement. CONCLUSIONS: In this case series, group 1A was the most common. For macular edema related to IJT, current treatment strategies had no consistent effect.

Extraskeletal osteosarcoma, telangiectatic variant arising from the small bowel mesentery

Extraskeletal osteosarcoma [EOS] is a highly aggressive and rare malignant soft tissue tumor, characterized by the production of neoplastic osseous tissue without attachment to the bone or periosteum. It rarely involves the visceral organs. Only 3 cases of mesenteric EOS have been reported in English literature. Here, we describe a male patient of 40 years, who was diagnosed to have EOS arising from small bowel mesentery This patient presented with lower gastrointestinal [GI] bleeding. Upper GI endoscopy and colonoscopy were normal. Computed tomography scan demonstrated a well defined multi-loculated mixed density mass lesion measuring about 13x7x7 cm in lower abdomen adjacent to small bowel loops with liver metastasis. Palliative en bloc resection of tumor with adjacent small bowel was performed. The histopathology revealed a telangiectatic type osteosarcoma of mesentery. Diagnosis of EOS, its management and the outcome in context of the current literature are discussed

Cutis marmorata telangiectático congénito: a propósito de cuatro casos / Congenital cutis marmorata telangiectasia: four case review

Congenital Cutis Marmorata Telangiectasia (CCMT) is a skin vascular malformation of low flow compromi-sing venous and capillary vessels. Of unknown origin, it shows in an estimated 1/3 000 births. In over 90 percent of cases it can be seen since birth, although it can appear on the first few days after. Clinical manisfestation includes poorly defined reticular erythematopurpureal maculae, frequently associated to ßreas of segmental, asymetric skin atrophy, most often seen in the lower extremitie. The diagnosis is mostly clinical, important to make as it is associated in 30 percent) of cases to other congenital abnormalities. No specific treatment is required, with spontaneous resolution. Prognosis is good, depending on the associated malformations. Four patients are described in this paper, as a reminder of the clinical entity.

El Cutis Marmorata Telangiectático Congénito (CMTC) es un tipo de malformación vascular cutánea de bajo flujo que compromete vasos capilares y venosos. Su causa es desconocida y tiene una incidencia estimada de 1/3 000 recién nacidos. En más del 90 por ciento> de los casos se presenta desde el nacimiento. Sin embargo, también puede aparecer en los primeros días de vida. Clínicamente se observan máculas eritematovioláceas, de aspecto reticulado, de bordes mal definidos, asociado frecuentemente a zonas de atrofia cutánea, de distribución segmentaria, asimétricas. Se ubican de preferencia en las extremidades, siendo las inferiores las más afectadas. El diagnóstico es fundamentalmente clínico y su importancia radica en que aproximadamente el 30 por ciento> de los casos se asocia a otras anomalías congénitas, la mayoría de carácter leve. No tiene un tratamiento específico, ya que evoluciona en poco tiempo a la resolución en forma espontánea. El pronóstico es generalmente bueno, aunque depende de las anomalías asociadas. En este artículo se presentan cuatro pacientes cuya historia clínica es compatible con este diagnóstico, para dar a conocer esta entidad clínica a los pediatras.

Resolution of macular edema in Coats' disease with intravitreal bevacizumab.

A 13-year-old boy was referred because of visual deterioration in his right eye. The visual acuity was two meters of counting fingers. Indirect ophthalmoscopy and biomicroscopy revealed exudative macular edema as well as tumor-like telangiectatic vessels and exudation in temporal periphery. With diagnosis of Coats' disease (stage II) confirmed by fluorescein angiography, three intravitreal injections of bevacizumab were performed at 6-week intervals. One year after the last injection, there was a significant resolution of macular edema as well as visual acuity improvement to 20/20. This is the first case report in which a distinct improvement in macular edema was observed with intravitreal bevacizumab in Coats' disease.

Atypical Angioma Serpiginosum

Angioma serpiginosum is an uncommon, acquired vascular nevoid disorder with capillary dilation and proliferation in the papillary dermis. The eruptions are asymptomatic and characterized by grouped, erythematous to violaceous, serpiginous and punctate macules. The condition usually appears in females during adolescence on unilateral lower extremities and the buttocks. We report a rare case with a late onset and atypical distribution of lesions in a 48-year-old female patient who had groups of punctate lesions on her left foot for four to five years. Histopathological examination showed hyperkeratosis and multiple dilated and proliferated capillaries in the papillary dermis. Inflammation and extravasation of red blood cells were not found. According to the clinical and pathological findings, we established a diagnosis of angioma serpiginosum. She was treated with a pulsed dye laser, and the angiomatous lesions subsequently improved.

Diagnostic evaluation of patients presenting with bleeding per rectum by colonoscopy

Rectal bleeding is a manifestation of lower gastrointestinal bleed, which means bleeding from a site distal to ligament of Treitz. Annual incidence of this problem has been estimated to be 20% and mortality as 11%. Patients complaining of haematochezia are suspected of having lower GI bleeding and proctosigmoidoscopy followed by colonoscopy is the examination of choice for diagnosis and treatment. Previous evidence suggested that in our country, frequencies of different aetiologies of lower GI bleed are different from the West. This study validated the previous findings. The Objective of this study was to determine the causes of rectal bleeding in adult patients at Military Hospital, Rawalpindi. One hundred and five adult patients with visible rectal bleed, irrespective of their gender were selected by non-probability convenient sampling from general medical OPD and general medical wards. Patients with suspected upper GI source of bleeding; haemorrhoidal bleed and acute infectious diarrhoea were excluded from the study. All patients were subjected to fibre-optic colonoscopy after necessary preparation and findings were recorded. Biopsies taken from suspected lesions were clinically indicated. Diagnosis was based on colonoscopic and histopathologic findings. A total of 105 patients [77 male and 28 female] with mean age 41.04 yrs were part of the study. Colonoscopy showed abnormal findings in 85 [84%] patients. The commonest diagnosis was ulcerative colitis, which was found in 48 [46%] patients. It was followed by colorectal carcinoma, 11 [10%] patients, and non-specific colitis, 9 [8%] patients. Other less frequent findings were colonic diverticuli, 7 [6%] patients, solitary rectal ulcer, 5 [4%] patients, colonic polyps in 3 [2.5%] patients and one case each of telangiectasia and Crohn's disease. Colonoscopy has very high diagnostic yield and would be recommended in the workup of patients presenting with bleeding per rectum. Ulcerative colitis was the leading cause of bleeding per rectum in this study; while infrequent findings of Crohn's disease, polyps and diverticuli indicate that these are uncommon in this region

Telangiectasia macularis eruptiva perstans: reporte de un caso y revisión de la literatura / Telangiectasia macularis eruptiva perstans: a case report and literature review

Mastocitosis es una enfermedad poco frecuente, caracterizada por incremento en el número de células cebadas en diferentes tejidos y órganos. El sitio más frecuentemente comprometido en cualquier variedad de mastocitosis es la piel. Dentro de las mastocitosis cutáneas se encuentran: uticaria pigmentosa, mastocitoma solitario, mastocitosis cutánea difusa y telangiectasia macularis eruptiva perstans. Telangiectasia macularis eruptiva perstans es una entidad poco frecuente dentro de las mastocitosis cutáneas. Se caracteriza por múltiples placas confluentes color rojizo o café, ubicadas frecuentemente en el tórax, aunque también en cara. Ocurre principalmente en adultos de mediana edad, y la mayoría de los paciente con esta enfermedad sólo presentan compromisos cutáneo. El pronóstico en general es favorable, con episodios de urticaria o síntomas constitucionales. Sin embargo, también se ha descrito asociación con enfermedades sistémicas. Se presenta el caso de una paciente de 67 años con máculas café y telangiectasias en tórax anterior, espalda y brazos, acompañada de hiperpigmentación. Las lesiones desaparecieron después de maniobras de comprensión y el signo de Darier fue negativo. La biopsia demostró la epidermis con leve espongiosis y la dermis con infiltración perivascular e intersticial significativa de mastocitos que se tiñen con Giemsa. No se observaron ni granulomas ni vasculitis. Se confirma el diagnóstico de telangiectasia macularis eruptiva perstans. Se discuten características clínicas, diagnósticas y terapéuticas de rara condición.

Telangiectasia hemorrágica hereditária (doença de rendu-osler-weber): um diagnóstico otorrinolaringológico / Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease): Otolaryngologic Diagnostic

A telangiectasia hemorrágica hereditária (doença de Rendu-Osler-Weber) é uma displasia fibrovascular sistêmica, de herança autossômica dominante, caracterizada pela tríade clássica: telangiectasias, epistaxes recorrentes e história familiar. Malformações arteriovenosas, aneurismas e telangiectasias podem ocorrer distribuídas pela vasculatura corporal apresentando degeneração da célula endotelial, defeitos nas junções endoteliais e fraqueza do tecido conjuntivo perivascular. É de prognóstico essencialmente benigno, embora complicações hepáticas, gastrointestinais, pulmonares, cardíacas e neurológicas possam ocorrer. A epistaxe é a forma mais comum de sangramento (80% dos afetados); e, geralmente, o primeiro evento hemorrágico. O diagnóstico exige história e exame físico minucioso, exames hematológicos, endoscopias, angiografias, raio X de tórax e fluoroscopia. A terapia é de suporte, com suplementação de ferro e transfusões sangüíneas, mas tratamentos hormonal e cirúrgico têm propiciado resultados relativos no controle dos distúrbios hemorrágicos. O diagnóstico da doença e a relação dos orgãos acometidos são importantes na prevenção e no tratamento adequado das complicações, assim como para orientação genética. Apresentamos 9 casos da doença e as considerações quanto a seu quadro clínico, fazendo uma revisão atualizada de sua fisiopatologia, manifestações clínicas e terapêutica clínico-cirúrgica.

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease) is a systemic autosomal dominant fibrovascular dysplasia, characterized by classical trio: telangiectasias, recurrent epistaxis and family history. Arteriovenous malformations, aneurisms and telangiectasias can occur over all the body vessels system which will show, then, endothelial cells degeneration, defective endothelial junctions and weakness of the connective tissue. Its prognostic is essencialy benign, but hepatic, gastrointestinal, pulmonary, cardiac and neurological complications may happen. Epistaxis is the most common bleeding (80% of the affected) and generally it is the first hemorrhagic event o€ the disease. The diagnosis includes history, physical examination, hematologic tests, endoscopy, angiography, chest X ray and fluoroscopy. Theraphy is supportive, offering iron supplement and blood transfusions, but hormonal and surgical treatment have obtained substancial results in bleeding control. Its diagnostic, referring to the organs involved, is important for the prevention and adequate treatment of the complications, as well as for genetic orientation. We present 9 cases and considerations about their clinical symptoms, making a revision of the current physiopathology, clinical manifestations, clinical and surgical treatment.