Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

Majeed, H. A.; Kalaawi, Malak H.; Mohanty, Dipika; Teebi, Ahmad S.; Tunjekar, M.F.; Al-Gharbawy, F.; Majeed, Safwan; Al-Gazzar, A.H.

doi:10.1016/s0022-3476(89)80650-x

Cited by 216 publications

(174 citation statements)

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“…There are reports of affected siblings (with unaffected parents), concordance in monozygotic twins and a report of child with CRMO whose father had noninfectious osteomyelitis of the sternum [10][11][12][13]. There is an autosomal recessive syndromic form of CRMO (Majeed syndrome) which is caused by mutations in LPIN2 [14][15][16][17]. In addition, a CRMO susceptibility locus has been mapped to human chromosome 18q21.3-22 [13].…”

Section: Introductionmentioning

confidence: 99%

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Ferguson

Bing

Vasef

et al. 2006

Bone

192

154

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Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder that primarily affects bone but is often accompanied by inflammation of the skin and/or gastrointestinal tract. The etiology is unknown but evidence suggests a genetic component to disease susceptibility. Although most cases of CRMO are sporadic, there is an autosomal recessive syndromic form of the disease, called Majeed syndrome, which is due to homozygous mutations in LPIN2. In addition, there is a phenotypically similar mouse, called cmo (chronic multifocal osteomyelitis) in which the disease is inherited as an autosomal recessive disorder. The cmo locus has been mapped to murine chromosome 18. In this report, we describe phenotypic abnormalities in the cmo mouse that include bone, cartilage and skin inflammation. Utilizing a backcross breeding strategy, we refined the cmo locus to a 1.3 Mb region on murine chromosome 18. Within the refined region was the gene pstpip2, which shares significant sequence homology to the PSTPIP1. Mutations in PSTPIP1 have been shown to cause the autoinflammatory disorder PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne). Mutation analysis, utilizing direct sequencing, revealed a single base pair change c.293T → C in the pstpip2 gene resulting in a highly conserved leucine at amino acid 98 being replaced by a proline (L98P). No other mutations were found in the coding sequence of the remaining genes in the refined interval, although a 50 kb gap remains unexplored. These data suggest that mutations in pstpip2 may be the genetic explanation for the autoinflammatory phenotype seen in the cmo mouse.

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Section: Introductionmentioning

confidence: 99%

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Ferguson

Bing

Vasef

et al. 2006

Bone

192

154

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“…Indeed, several studies have demonstrated that CRMO in adults and children can be associated with palmoplantar pustulosis (PPP) (4,(7)(8)(9), psoriasis (10), acne (11), or, more rarely, Sweet's syndrome (12). Sonozaki et al (7) proposed the name of pustulotic arthro-osteitis for the osteoarticular manifestations associated with PPP.…”

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confidence: 99%

Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term

Vittecoq

Said

Michot

et al. 2000

Arthritis & Rheumatism

129

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Objective. To retrospectively assess, with a sufficiently long followup (mean 11.6 years; median 9 years), the long-term outcome of chronic recurrent multifocal osteitis (CRMO), a multifocal, inflammatory bone disease.Methods. Patients included were 8 children/ adolescents and 7 adults with no family history of rheumatic disease who had been diagnosed as having CRMO between 1979 and 1995. Ten patients had undergone at least 1 bone biopsy of the lesions, with histologic examination and multiple cultures. In 1996, in addition to an in-depth interview, 12 patients underwent an extensive physical examination, laboratory evaluation, HLA-A, B, C, and DR typing, bone radiography and scintigraphy, and computed tomography scan of the sternoclavicular and sacroiliac joints.Results. Remission was observed in 3 patients. The other 12 patients developed various associations of vertebral (n ‫؍‬ 10), sacroiliac (n ‫؍‬ 6), anterior thoracic (n ‫؍‬ 7), peripheral articular (n ‫؍‬ 2), enthesopathic (n ‫؍‬ 4), or dermatologic (palmoplantar pustulosis in 3 cases and psoriasis in 2) involvements. Spine involvement was the most common and occurred the earliest (median time to appearance after the onset of osteitis 5.63 years). Clinical sacroiliitis was always unilateral. No patients carried the HLA-B27 haplotype. CRMO responded well to nonsteroidal antiinflammatory drugs. Twelve patients met the European Spondylarthropathy Study Group criteria for spondylarthopathy.

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“…The binucleation of erythroblasts were readily appreciated (×600, H&E stain) Fig. 3 The binucleation of erythroblasts was characterized by two equal-sized nuclei and present in the erythroblasts at the later stages of maturation, mostly late polychromatophilic or orthochromatophilic erythroblasts (×1000, Wright-Giemsa stain) including Dubin-Johnson syndrome, Von Willebrand's disease, mental retardation, and Sweet's syndrome [19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient

et al. 2010

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Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

Cited by 216 publications

References 11 publications

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis

Evolution of chronic recurrent multifocal osteitis toward spondylarthropathy over the long term

Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient

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