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A sporadic case of early‐onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene
Author(s) -
CotoSegura P.,
MalloGarcia S.,
CostaRomero M.,
Arostegui J.I.,
Yague J.,
RamosPolo E.,
SantosJuanes J.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2007.08210.x
Subject(s) - nod2 , missense mutation , sarcoidosis , medicine , mutation , gene , dermatology , genetics , pathology , biology , disease , crohn's disease
Summary Sarcoidosis is a multisystem granulomatous disorder characterized by the infiltration of noncaseating granulomata in the affected tissues. We report here the clinical case of a Caucasian Spanish patient suffering from sporadic early‐onset sarcoidosis (EOS) with simultaneous cutaneous and articular symptoms. NOD2 (nucleotide‐binding oligomerization domain; previously known as CARD15, caspase recruitment domain) gene mutational analysis revealed the presence of the recurrent R334W missense mutation. As in previously reported EOS cases, our patient was initially misdiagnosed with dermatitis.