Assuntos
Artrite Reumatoide/complicações , Proteína Antagonista do Receptor de Interleucina 1/administração & dosagem , Lúpus Eritematoso Sistêmico/complicações , Pioderma Gangrenoso , Biópsia/métodos , Resistência a Medicamentos , Feminino , Humanos , Pessoa de Meia-Idade , Pioderma Gangrenoso/tratamento farmacológico , Pioderma Gangrenoso/etiologia , Pioderma Gangrenoso/patologia , Pioderma Gangrenoso/fisiopatologia , Receptores de Interleucina-1/antagonistas & inibidores , Resultado do TratamentoAssuntos
Hemangiossarcoma/terapia , Paclitaxel/uso terapêutico , Neoplasias Cutâneas/terapia , Idoso , Antibacterianos/uso terapêutico , Antineoplásicos Fitogênicos/uso terapêutico , Terapia Combinada , Seguimentos , Hemangiossarcoma/diagnóstico , Hemangiossarcoma/patologia , Humanos , Inflamação/tratamento farmacológico , Inflamação/etiologia , Limeciclina/uso terapêutico , Masculino , Couro Cabeludo , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologiaRESUMO
We describe a 6-year-old girl presenting with nail dysplasia affecting all nails and hands for 2 years. Changes were seen on the ulnar side of the nails. She was assessed for limitation of elbow movements at 3 weeks of age and underwent physiotherapy for thickened biceps tendon. She subsequently developed laxity of knees and ankles, and x-ray revealed absent patellae at 32 weeks. She had behavioral abnormalities and sleep disturbances. X-ray of the pelvis revealed iliac horns, and urinalysis showed 3+ proteinuria. She had mixed hyperlipidemia. Her chromosomal analysis was normal but showed a mutation in the LMX1B gene. She was diagnosed to have Nail-patella syndrome or Hereditary osteo-onychodysplasia (HOOD Syndrome). Her renal imaging was normal, as were her ocular pressures. She is under regular surveillance by a multi-disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin.