RESUMO
Depigmented nevi, pityriasis alba, and postinflammatory hypopigmentation are the most frequent hypomelanotic conditions in newborns and infants. These, and examples of less frequent hypopigmentations are briefly discussed in this article. A new classification for depigmented nevi is also proposed.
Assuntos
Hipopigmentação/congênito , Algoritmos , Síndrome de Chediak-Higashi/congênito , Humanos , Lactente , Recém-Nascido , Nevo/congênito , Fenilcetonúrias/diagnóstico , Piebaldismo/diagnóstico , Pitiríase/congênito , Neoplasias Cutâneas/congênito , Esclerose Tuberosa/congênito , Vitiligo/congênito , Síndrome de Waardenburg/diagnósticoAssuntos
Doenças do Gato/congênito , Doenças do Cão/congênito , Síndromes de Imunodeficiência/veterinária , Agamaglobulinemia/congênito , Agamaglobulinemia/imunologia , Agamaglobulinemia/veterinária , Animais , Doenças do Gato/imunologia , Gatos , Síndrome de Chediak-Higashi/congênito , Síndrome de Chediak-Higashi/imunologia , Síndrome de Chediak-Higashi/veterinária , Complemento C3/deficiência , Doenças do Cão/imunologia , Cães , Deficiência de IgA/congênito , Deficiência de IgA/imunologia , Deficiência de IgA/veterinária , Síndromes de Imunodeficiência/congênito , Síndromes de Imunodeficiência/imunologia , Neutropenia/congênito , Neutropenia/imunologia , Neutropenia/veterinária , Anomalia de Pelger-Huët/congênito , Anomalia de Pelger-Huët/imunologia , Anomalia de Pelger-Huët/veterinária , Periodicidade , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/veterináriaRESUMO
Although inherited forms of phagocyte defects affect a small proportion of the general population, their clinical course can be altered dramatically by a physician's awareness of these diseases and modifications of the approach to and treatment of affected patients. The most common syndromes are chronic granulomatous disease of childhood (CGD), the Chediak-Higashi syndrome (CHS), the hyperimmunoglobulin-E-recurrent infection (Job's) syndrome (HIE), and myeloperoxidase (MPO) deficiency. CGD patients have defects in the oxidative metabolism involved in killing catalase-positive organisms. CHS patients have giant granules defective in fusing with phagosomes and subsequent killing of ingested organisms. HIE patients have abnormal chemotaxis and elevated IgE levels and are susceptible to skin infections with Staphylococcus aureus and recurrent sinopulmonary infections. MPO-deficient patients often go undetected since they rarely have recurrent infections unless they have a concomitant disease such as diabetes mellitus. Patients with a recently described syndrome, C3bi receptor deficiency, have recurrent bacterial infections and persistent leukocytosis, and their neutrophils have abnormal adherence and phagocytosis. The absence of specific granules is a more rare entity but these patients also have recurrent infections thought to be secondary to a chemotactic defect and a minor abnormality of microbial killing exhibited by their neutrophils. This review will focus on the clinical presentation and management of these patients.