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1.
J Fr Ophtalmol ; 33(1): 36-9, 2010 Jan.
Article in French | MEDLINE | ID: mdl-20005004

ABSTRACT

CINCA syndrome is an autoinflammatory disease in childhood characterized by multisystemic manifestations: cutaneous, articular, and neurological including sensory organs. We report the case of homozygous twins affected by CINCA syndrome. The diagnosis was evoked on the basis of multiple systemic symptoms (multiple episodes of fever of unknown origin, mental retardation, short stature, meningitis, hearing loss, bilateral papilledema) and confirmed by the presence of a CIAS1 mutation on genetic analysis. After few months of treatment by anakinra (an interleukin-1 receptor antagonist) the children began to grow again and we noted regression of the biological inflammatory syndrome.


Subject(s)
Cryopyrin-Associated Periodic Syndromes/complications , Diseases in Twins/complications , Papilledema/etiology , Child , Humans , Male
2.
J Fr Ophtalmol ; 30(8): 815-8, 2007 Oct.
Article in French | MEDLINE | ID: mdl-17978678

ABSTRACT

INTRODUCTION: Scar sarcoidosis is a cutaneous demonstration of sarcoidosis arising on old cutaneous scars and generating nodular erythematous lesions. CASE REPORT: We report the case of a 55-year-old patient sent for a multinodular erythematous tumefaction, at the level of the right eyebrow arch. The pathologic exam of the surgical specimen found a noncaseating inflammatory granulomatous reaction with no caseous necrosis. The diagnosis of sarcoidosis was retained based on a number of diagnostic arguments including the thoracic scanner and bronchoscopy results. DISCUSSION: Scar sarcoidosis is a cutaneous sarcoidosis expression but exceptionally leads to discovery of this disease, which then requires a search for visceral lesions because of their frequent association. The location is essentially facial and the peak of frequency is in the 5th decade. This pathology highlights the problem of its differential diagnosis, based on biopsy, which will eliminate cutaneous metastases, lymphoma, as well as other cutaneous granulomas.


Subject(s)
Cicatrix/pathology , Eye Diseases/pathology , Sarcoidosis/pathology , Erythema/etiology , Female , Humans , Middle Aged
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