Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.
نویسندگان
چکیده
منابع مشابه
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome.
BACKGROUND Pediatric sarcoidosis has traditionally been divided into 2 distinct groups: (1) school-aged children and adolescents with frequent involvement of the lungs and mediastinal lymph nodes (similar to adult sarcoidosis) and (2) infants and preschoolers with the triad of arthritis, uveitis, and a cutaneous eruption of discrete small papules, referred to as early-onset sarcoidosis. Blau sy...
متن کاملAutoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease
The recent identification of genetic mutations leading to dysfunction of inflammatory and apoptotic pathways, has allowed to characterise a group of diseases, recognised as monogenic autoinflammatory syndromes. Among those, Blau syndrome (BS) and early-onset sarcoidosis (EOS) have been identified as familial and sporadic phenotypes of the same non-caseating granulomatous form. Both the diseases...
متن کامل[Early-onset sarcoidosis/Blau syndrome].
Familial Blau syndrome and sporadic early-onset sarcoidosis (EOS) are both systemic granulomatous diseases evoked by the spontaneous activation of mutated NOD2. In Japan, the R334W amino acid substitution is more frequently identified, whereas the R334Q mutation is rare and, in contrast to western countries where disease causing mutations are typically hereditary, most Japanese cases derive fro...
متن کاملDiagnosis of early-onset sarcoidosis with non–classical symptoms
Results A 15-month-old male patient was referred to pediatric rheumatology for evaluation of non-pruritic skin eruption most prominent on arm and leg, fever and lymphadenopathy. These symptoms began when the patient was four months old. Several antibiotics therapies had been examined. The maximal convelescence period was a month. There were no consanguinity and family history. Physical examinat...
متن کاملP03-012 - A P268S NOD2 mutation in one Blau patient
Introduction Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous, recurrent uveitis, dermatitis and symmetric arthritis. The arthritis is usually a polyarticular exuberant synovitis and tenosynovitis and represents the characteristic phenotypic feature. Uveitis occurs in most patients and commonly evolves to a panuveiti...
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عنوان ژورنال:
- Acta dermato-venereologica
دوره 97 1 شماره
صفحات -
تاریخ انتشار 2017