RESUMO
Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
Assuntos
Contratura/patologia , Artropatias/patologia , Doenças Musculares/patologia , Dermatopatias/patologia , Substituição de Aminoácidos , Contratura/genética , Diarreia/patologia , Evolução Fatal , Feminino , Humanos , Lactente , Artropatias/genética , Proteínas de Membrana/genética , Doenças Musculares/genética , Receptores de Peptídeos , Dermatopatias/genéticaRESUMO
A 33-year-old patient was referred for evaluation and treatment of enlarging scars in areas where full-face carbon dioxide (CO2) laser resurfacing had been performed previously. The patient denied any systemic illness and was in good health at the time of presentation. This is a case report of isolated sarcoidosis limited to the skin associated with CO2 laser resurfacing.
Assuntos
Cicatriz/patologia , Cicatriz/cirurgia , Terapia a Laser/efeitos adversos , Sarcoidose/etiologia , Sarcoidose/patologia , Dermatopatias/etiologia , Dermatopatias/patologia , Adulto , Biópsia por Agulha , Dióxido de Carbono/uso terapêutico , Dermatoses Faciais/etiologia , Dermatoses Faciais/patologia , Seguimentos , Humanos , Imuno-Histoquímica , Terapia a Laser/métodos , Masculino , Medição de RiscoRESUMO
Many systemic agents are used in the treatment of psoriasis. They provide good control of psoriasis in the majority of patients and have improved their life quality indices. Frequently, combination therapy is utilized to synergize the efficacy of these medications. Many dermatologists are hesitant in prescribing systemic agents because of their adverse effects. However, such potential toxicities arising from these medications can largely be avoided if proper patient selection and close monitoring are performed.
