Résumé
A rigidez da parede venosa pode aumentar em síndromes em que há uma redução da quantidade de elastina, ocasionando malformações venosas mesmo em indivíduos que possuem mosaicismo para tais síndromes. Casos com apresentação de afecções colagenosas em áreas delimitadas não foram descritos na literatura. O paciente apresentava lesão bem delimitada em região anteromedial da coxa com aumento de elasticidade e presença de vasos tortuosos apenas no local da lesão, não apresentando nenhuma síndrome colagenosa. Foi realizada uma biópsia que evidenciou alterações em relação ao padrão das fibras elásticas e proliferação de vasos sanguíneos. A malformação venosa foi tratada satisfatoriamente com embolização. As doenças do colágeno causam hiperextensibilidade cutânea, o que provoca flacidez e propicia traumas. As colagenoses bem delimitadas são raras, pois geralmente esse grupo de doenças envolve acometimento sistêmico. As malformações vasculares podem ocorrer em diversas doenças do colágeno, mas de forma generalizada e não localizada, e uma explicação para isso seria o mosaicismo genético.
In syndromes that involve reduced quantities of elastin, the rigidity of vein walls may be increased, causing venous malformations, even in people who have mosaicism for these syndromes. There are no previous descriptions in the literature of collagen diseases presenting in specific, delimited areas. The patient described here presented with a lesion restricted to a well-defined area of the anteromedial thigh, in which elasticity was increased and vessels were tortuous, in the area of the lesion only, and with no other signs of collagen syndromes. A biopsy was conducted and the findings included changes to the normal arrangement of the elastic fibers and proliferation of blood vessels. The venous malformation was treated satisfactorily by embolization. Collagen diseases can cause cutaneous hyperextensibility, provoking flaccidity and a propensity to traumatisms. Connective tissue diseases restricted to well-delimited areas are rare, since this group of diseases usually has systemic involvement. Vascular malformations can be seen in many different collagen diseases, but with generalized rather than localized presentation. One possible explanation for the case described here is genetic mosaicism.
Sujets)
Humains , Mâle , Adulte , Malformations cutanées/diagnostic , Malformations cutanées/génétique , Malformations cutanées/anatomopathologie , Maladies du collagène/congénital , Maladies du collagène/génétique , Maladies du collagène/anatomopathologie , Mosaïcisme , Embolisation thérapeutique/méthodes , Anomalies vasculaires/complicationsRésumé
Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed.