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4.
Rev Mal Respir ; 37(1): 86-90, 2020 Jan.
Article de Français | MEDLINE | ID: mdl-31883816

RÉSUMÉ

INTRODUCTION: Because of its rarity and lack of specific symptoms, the diagnosis of Marfan's syndrome can be delayed. Though cardiovascular, skeletal and ophthalmological manifestations are the most frequent features, the respiratory system can also be involved. OBSERVATION: We report the case of a 35-year-old patient who presented with a large, right sided, encysted pyopneumothorax. The history revealed two episodes of spontaneous pneumothorax, cataract surgery ten years before his admission, and a similar case in the family. Clinical examination showed skeletal abnormalities of the wrist and thumb as well as deformity of the hindfoot with a flat foot. He had no characteristic thoracic deformity. Ophthalmologically, the right eye had a subluxed lens and the left eye had a totally subluxed cataract. CONCLUSION: The development of the third episode of pneumothorax led to the diagnosis of Marfan's syndrome thanks to the patient's combination of symptoms. To avoid diagnostic delay, criteria were established in 1996 and revised in 2010 to ensure an early diagnosis of this condition.


Sujet(s)
Syndrome de Marfan/complications , Syndrome de Marfan/diagnostic , Pneumothorax/diagnostic , Pneumothorax/étiologie , Adulte , Diagnostic différentiel , Humains , Mâle , Récidive
6.
Hautarzt ; 65(12): 1062-5, 2014 Dec.
Article de Allemand | MEDLINE | ID: mdl-25260302

RÉSUMÉ

A 67-year-old man presented with a maculopapular exanthem which started over the major joints. Within a few days, it spread to the entire skin surface and was accompanied by blisters as well as changes of the oral mucosa. The histological examination revealed subepidermal blistering. Targeted laboratory examinations detected serum antibodies against the epidermal basement membrane and autoantibodies against type VII collagen. The findings supported the diagnosis of a generalized inflammatory epidermolysis bullosa acquisita with mucosal involvement.


Sujet(s)
Cloque/diagnostic , Cloque/étiologie , Épidermolyse bulleuse acquise/complications , Épidermolyse bulleuse acquise/diagnostic , Sujet âgé , Diagnostic différentiel , Exanthème , Faux positifs , Humains , Mâle , Maladies rares/diagnostic , Dermatoses virales/complications , Dermatoses virales/diagnostic
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