ABSTRACT
Dentre os crocodilianos com ocorrência no Brasil, o Caiman crocodilus (Linnaeus, 1758) é a espécie de maior frequência, porém sua presença em estudos científicos restringe-se a levantamentos faunísticos, na maioria das vezes. O leucismo, também conhecido como albinismo parcial, é uma anomalia cromática ainda pouco conhecida. Indivíduos portadores dos genes que condicionam a doença apresentam ausência de pigmentação em uma parte ou em todo o corpo, porém os olhos não apresentam alteração. O objetivo deste trabalho foi realizar o primeiro registro de Caiman crocodilus com leucismo no mundo.(AU)
Among crocodilians in Brazil, Caiman crocodilus (Linnaeus, 1758) is the most frequent species, but its presence in scientific studies is mostly restricted to faunal surveys. Leukism, also known as partial albinism, is a still little known chromatic anomaly. Individuals with genes that condition the disease present no pigmentation in one part or in the whole body, but the eyes did not change. The objective of this work was to perform the first record of Caiman crocodilus with leucismo in the world.(AU)
Subject(s)
Animals , Piebaldism/veterinary , Monophenol Monooxygenase , Alligators and Crocodiles , Animals, WildABSTRACT
El piebaldismo es una enfermedad congénita, autosómica dominante que afecta el cabello y la piel, y se manifiesta por un mechón de pelo hipocrómico (poliosis), generalmente localizado en zona frontal; además, en la piel hay zonas de despigmentación e hipomelanosis. La causa es la ausencia de melanocitos en las áreas afectadas por mutación en el protooncogén KIT (receptor tirosinasa kinasa) con tirosinasa mutada en los melanoblastos. Se reporta el caso de una niña de 4 meses de edad, con un mechón hipocrómico frontal y grandes manchas acrómicas en la cara, el tronco y las extremidades, en una distribución casi simétrica, presentes desde el nacimiento, y muy características de esta enfermedad. El diagnóstico diferencial se realizó con síndrome Waardenburg, albinismo oculocutáneo con afección ocular y el síndrome Griscelli-Prunieras, que es un albinismo que se acompaña de inmunodeficiencia
Piebaldism is a congenital dominant autosomal disease affecting the hair and the skin. It appears as a hypochromic hair highlight (poliosis) generally located in the front in addition to depigmented skin areas and hypomelanosis. The cause is lack of melanocytes in the affected areas due to protoncogen KIT (kinase tyrosinase receptor) mutation, being tyrosinase mutated in melanoblasts. This is the case of a 4 months-old girl who presented a frontal hypochromic highlight and large inborn achromic spots in her face, her thorax and extremities, which are almost symmetrically distributed and very characteristic in this disease. The differential diagnosis was made by using Waardenburg syndrome, oculocutaneous albinism with ocular effect and Griscelli-Prunieras syndrome that is an immunodeficiency-accompanied albinism
Subject(s)
Humans , Female , Infant , Piebaldism/diagnosis , Piebaldism/physiopathologyABSTRACT
Se presenta un niño con trastorno de la pigmentación de la piel. Posee antecedentes familiares de igual entidad. A través de la confección de la historia clínica, confección del árbol genealógico, y fundamentalmente, el examen físico se le diagnóstica de piebaldismo. Se trata de una rara entidad, por lo tanto, se decide la revisión de la literatura médica.
A child presenting a pigmentary disorder in the skin attended to the genetic office, the patient has a familial history with the same entity. Through the preparation of the clinical chart, family tree was examined; Piebaldism was mainly diagnosed by physical examination. Since this is a rare entity, a medical literature revision was carried out.