title: A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene.
abstract: 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.
authors.affiliation: Department of Dermatology, Asturias Central University Hospital, Asturias, Spain. pablo@aedv.es
authors.forename: P
authors.initials: P
authors.lastname: Coto-Segura
authors.forename: S
authors.initials: S
authors.lastname: Mallo-Garcia
authors.forename: M
authors.initials: M
authors.lastname: Costa-Romero
authors.forename: J I
authors.initials: JI
authors.lastname: Arostegui
authors.forename: J
authors.initials: J
authors.lastname: Yague
authors.forename: E
authors.initials: E
authors.lastname: Ramos-Polo
authors.forename: J
authors.initials: J
authors.lastname: Santos-Juanes
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D003872:Dermatitis / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D012507:Sarcoidosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein