Multifocal lymphangioendotheliomatosis without thrombocytopenia or clinical signs of systemic bleeding.

Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is an extremely rare recently described disorder characterized by diffuse congenital skin and gastrointestinal vascular lesions that may be associated with gastrointestinal bleeding and thrombocytopenia. We herein present a case report of multifocal lymphangioendotheliomatosis without thrombocytopenia or extensive extracutaneous involvement (gastrointestinal bleeding). Given the high morbidity and mortality associated with this disease, it is important for clinicians to recognize this disorder in order to select the most appropriate therapeutic approach.

[Endogenous ochronosis: a case description]. / Ocronosis endógena: descripción de un caso.

Endogenous ochronosis or alkaptonuria is an autosomal recessive disease caused by a deficiency of the enzyme homogentisic acid oxidase. Affected individuals excrete high levels of homogentisic acid in the urine, which darkens when it is alkalinized or oxidized. Deposits of blackish-brown pigment also occur in connective tissue; this causes, usually starting around the age of 40, the typical external manifestations of this disease, along with disorders in other organs. We present a clinical case of endogenous ochronosis, a very infrequent disease in our milieu. We will discuss the most noteworthy features of the case.