Blau syndrome (MIM 186580) is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Missense mutations in CARD15, usually on codon 334, have been described in several families with Blau syndrome. The disorder has been described as familial; here we report the first evidence of a sporadic case of Blau syndrome in a 19 year-old man with two CARD15 mutations (R334Q and G908R). His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease. An extensive radiologic, histologic and laboratory evaluation and a life-long clinical follow-up is available for this patient who presented skin, joint, epididimal and eye involvement.
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up / R., Priori; M., Bombardieri; Spinelli, FRANCESCA ROMANA; F., Merlin; C., Miceli Richard; LA CAVA, Maurizio; SILI SCAVALLI, Antonio; Guerrisi, Raffaele; J. P., Hugot; Valesini, Guido. - In: SARCOIDOSIS VASCULITIS AND DIFFUSE LUNG DISEASES. - ISSN 1124-0490. - 21:3(2004), pp. 228-231.
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.
SPINELLI, FRANCESCA ROMANA;LA CAVA, Maurizio;SILI SCAVALLI, Antonio;GUERRISI, Raffaele;VALESINI, Guido
2004
Abstract
Blau syndrome (MIM 186580) is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. Missense mutations in CARD15, usually on codon 334, have been described in several families with Blau syndrome. The disorder has been described as familial; here we report the first evidence of a sporadic case of Blau syndrome in a 19 year-old man with two CARD15 mutations (R334Q and G908R). His healthy mother, father and brother did not carry the R334Q mutation, which was thus considered a neo-mutation, nor did they carry the other mutation, usually found in Crohn's disease. An extensive radiologic, histologic and laboratory evaluation and a life-long clinical follow-up is available for this patient who presented skin, joint, epididimal and eye involvement.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.