Familial aggregation of Crohn's disease and necrotizing sarcoid-like granulomatous disease.

Granulomatous inflammatory diseases are disorders of an undetermined etiology, affecting different organs and having a diverse clinical course. Familial aggregation of these disorders is being reported increasingly, most commonly familial Crohn's disease. We described the coexistence of Crohn's disease and necrotizing sarcoid-like granulomatous disease in two siblings from a first-degree consanguineous Saudi family.

Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients.

Background: Camptodactyly-arthropathy-coxavara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in the gene proteoglycan 4 (PRG4), affecting lubricin production, which is an essential protein for joint function. Manifestations vary between affected individuals with camptodactyly, early-onsetnon-inflammatory arthropathy, coxa vara deformity and non-inflammatory pericarditis.

Objective: To describe the clinical, laboratory, radiological and genetic findings of CACP syndrome in children from Saudi Arabia.