RESUMO
This JAMA Network Insight describes dermatologists' role in managing hyperpigmentation, from counseling on photoprotection to prescribing treatment regimens, for this psychosocially distressing entity.
Assuntos
Hiperpigmentação , Humanos , Hiperpigmentação/diagnóstico , Hiperpigmentação/terapia , Inquéritos e QuestionáriosAssuntos
Nevo Azul/patologia , Ocronose/patologia , Transtornos da Pigmentação/patologia , Terapia por Acupuntura/métodos , Biópsia por Agulha , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Dor Lombar/diagnóstico , Dor Lombar/terapia , Masculino , Pessoa de Meia-Idade , Nevo Azul/diagnóstico , Ocronose/diagnóstico , Transtornos da Pigmentação/diagnóstico , Doenças RarasAssuntos
Terapia por Acupuntura/métodos , Dor Lombar/terapia , Nevo Azul/patologia , Ocronose/patologia , Biópsia por Agulha , Dor Crônica/terapia , Diagnóstico Diferencial , Seguimentos , Humanos , Imuno-Histoquímica , Dor Lombar/diagnóstico , Masculino , Pessoa de Meia-Idade , Nevo Azul/diagnóstico , Ocronose/diagnóstico , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/patologia , Doenças RarasRESUMO
IMPORTANCE: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is a newly characterized immunodeficiency syndrome associated with distinct cutaneous features. Awareness of the cutaneous skin findings associated with PLAID may facilitate diagnosis and improve patient care. OBJECTIVES: To characterize the cutaneous manifestations of PLAID and identify potential cellular mechanisms of the disease. DESIGN, SETTING, AND PARTICIPANTS: In this retrospective analysis of patients with PLAID and PLAID-like disease evaluated at the National Institutes of Health from January 1, 2005, through December 31, 2014, patients with deletions in PLCG2 leading to PLAID and patients with PLAID-like disease for whom a PLAID mutation was not identified were studied. MAIN OUTCOMES AND MEASURES: Characterization of cutaneous manifestations of PLAID and PLAID-like disease and analysis of PLAID immune cell activation. RESULTS: Among 36 patients with PLAID and PLAID-like phenotypes, all of whom had evaporative cold urticaria, 8 patients had a history of unique neonatal-onset ulcerative and cutaneous lesions in cold-sensitive regions of the body. Granulomatous skin lesions sparing warm regions (eg, flexural surfaces and skinfolds) were identified in 4 patients. Neutrophils and monocytes from patients with PLAID exhibited enhanced baseline activation in vitro, which was potentiated by ambient temperature exposure. CONCLUSIONS AND RELEVANCE: Collectively, these findings suggest that early identification of neonatal lesions may help in the diagnosis of PLAID and that leukocyte hyperactivation may underlie cutaneous lesions in patients with PLAID. Further characterization of mechanisms underlying leukocyte hyperactivation may contribute to the fundamental understanding of granuloma formation.