Patients present with skin fragility, erosions, vesicles, bullae, and milia in sun-exposed skin. [emedicine.medscape.com]

Jones Lecture, presented in part at the Massachusetts General Hospital, Boston, March 18, 1960. From the Department of Medicine, University of Minnesota Medical School and Hospitals. [nejm.org]

ReportsResumen congreso2017 End-stage organ failure in sarcoidosis: characterization and predictive factors in 1082 patients ANNALS OF THE RHEUMATIC DISEASESResumen congreso2017 Epidemiologic Subsets Drive a Differentiated Thoracic and Extrathoracic Presentation [bibliometria.us.es]

Workup in acute porphyria Laboratory studies With the exception of aminolevulinic acid dehydratase (ALAD) deficiency, acute porphyrias can be diagnosed during acute episodes with two quick bedside tests to identify porphobilinogen (PBG): the Hoesch test [emedicine.medscape.com]

Genetic testing is helpful in confirming the diagnosis of porphyrias Treatment Treatment of acute episodes addresses symptoms and includes parenteral narcotics for pain. [emedicine.medscape.com]

Abstract Haem and bilirubin metabolism was studied in seven healthy volunteers during 4 weeks treatment with rifampicin 600 mg at night. [ncbi.nlm.nih.gov]

Recommendations for the diagnosis and treatment of acute porphyries. Ann InternMed. 2005; 142: 439-450. Thunell S. Genomic approach to acute porphyria. Physiol. Res. 2006; 55(supl.2): S43-S66. Poblete-Guterrez P. y Cols. [medigraphic.com]

Otros2022 18F-FDG PET for the diagnosis and assessment of treatment response of autoimmune limbic encephalitis REVISTA ESPANOLA DE MEDICINA NUCLEAR E IMAGEN MOLECULARArtículo2022 Therapy-resistant dermatomyositis with extensive 'lumbar belt' calcinosis [bibliometria.us.es]

Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992 Jan. 71(1):1-13. [QxMD MEDLINE Link]. [emedicine.medscape.com]

Clinical and Epidemiological Characterization of Systemic Phenotype in 1521 Patients ARTHRITIS & RHEUMATOLOGYArtículo2019 Systemic phenotype of sarcoidosis associated with radiological stages. [bibliometria.us.es]

Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria. Epilepsia. 1996 Mar. 37(3):230-5. [QxMD MEDLINE Link]. Ellencweig N, Schoenfeld N, Zemishlany Z. [emedicine.medscape.com]

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019 Nov. 128 (3):298-303. [QxMD MEDLINE Link]. Madan P, Schaaf CP, Vardhan P, et al. [emedicine.medscape.com]

Emphasis is on prevention of attacks by avoiding fasting and drugs that precipitate the symptoms. Photosensitivity may be controlled by avoiding exposure to light. [medical-dictionary.thefreedictionary.com]

Avoidance of sunlight is the key in preventing attacks of cutaneous porphyrias. Treatment of PCT involves reduction of hepatic iron, such as with phlebotomy or low-dose hydroxychloroquine. [emedicine.medscape.com]