LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Inverse klippel-trenaunay syndrome

Santino, Mariana Franco Ferraz; Lopes, Maria João Paiva.

Rev. Paul. Pediatr. (Ed. Port., Online); 38 (), 2020

ABSTRACT Objective: To report a rare case of inverse Kipplel-Trenaunay. Case description: A 16-year-old girl with a grayish-depressed plaque on her left thigh. Angioresonance showed a vascular malformation affecting the skin and subcutaneous tissue. Comments: Inverse Klippel-Trenaunay is a Klippel-...

Síndrome de Klippel-Trenaunay-Weber/diagnóstico, Angiografía por Resonancia Magnética/métodos, Anomalías Cutáneas/patología, Tejido Subcutáneo/irrigación sanguínea, Tejido Subcutáneo/patología, Malformaciones Vasculares/diagnóstico por imagen, Malformaciones Vasculares/patología

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Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Gouveia, Miguel Pinto de; Coutinho, Inês; Teixeira, Vera; d'Oliveira, Renata; Venâncio, Margarida; Moreno, Ana.

An. bras. dermatol; 91 (6), 2016

Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurod...

Hiperpigmentación/genética, Hiperpigmentación/patología, Hipopigmentación/genética, Hipopigmentación/patología, Anomalías Cutáneas/patología, Trisomía/patología, Cromosomas Humanos Par 7, Hipertricosis/genética, Hipertricosis/patología, Mosaicismo, Síndrome

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Syndrome in question

Peixoto, Isy Lima; Carreno, Ana Maria; Prazeres, Vania Mesquita Gadelha; Chirano, Caroline Albuquerque Rodrigues; Ihara, Gabriel Maroja; Akel, Patricia Bandeira de Melo.

An. bras. dermatol; 89 (6), 2014

Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in th...

Síndrome de Costello/patología, Anomalías Cutáneas/patología, Síndrome de Costello/complicaciones, Síndrome de Costello/fisiopatología, Facies, Queratodermia Palmoplantar/patología

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