Chronic recurrent multifocal osteomyelitis and psoriasis—A report of a new association and review of related disorders

Laxer, Ronald M.; Shore, A; Manson, David; King, Susan; Silverman, Earl D.; Wilmot, D. M.

doi:10.1016/0049-0172(88)90011-x

Cited by 89 publications

(42 citation statements)

References 34 publications

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“…This is very similar to human CRMO, in which affected individuals develop histologically similar bone inflammation, with many individuals developing an associated inflammatory disorder, usually involving the skin. Palmoplantar pustulosis is the most common inflammatory dermatosis associated with CRMO but psoriasis [3,4,24,25], Sweet syndrome [16,[26][27][28], pyoderma gangrenosum [6,7,9,[28][29][30] and generalized pustulosis may also occur [31]. Gastrointestinal inflammation manifesting as Crohn's disease or ulcerative colitis has also been reported in association with CRMO [6][7][8][9] but we have yet to detect inflammation in the small or large bowel in cmo mice.…”

Section: Discussionmentioning

confidence: 98%

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

Ferguson

Bing

Vasef

et al. 2006

Bone

197

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: Discussionmentioning

confidence: 98%

“…It presents in childhood with multiple, painful, sterile, inflammatory bone lesions, often accompanied by fever [1,2]. It is frequently seen in association with other inflammatory disorders including psoriasis and inflammatory bowel disease [3][4][5][6][7][8][9].…”

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

197

154

View full text Add to dashboard Cite

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“…The normal skin antigens are attacked by an immune cross-reaction causing inflammatory cascades. [18][19][20] However, none of these theories adequately explains the pathogenesis of the disease.…”

Section: Discussionmentioning

confidence: 99%

Chronic recurrent multifocal osteomyelitis involving the mandible: case reports and review of the literature

Monsour¹,

Dalton²

2010

Dentomaxillofacial Radiology

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Chronic recurrent multifocal osteomyelitis (CRMO) is an aseptic inflammatory disorder of unknown cause occurring in children and adolescents. It is characterized by multifocal bone lesions with pain and swelling recurring over months to years. Lesions usually involve the metaphyses of the long bones and involvement of the jaw is rare. The clinical presentation, radiographic appearance and histology of a case of CRMO involving the mandible in an 8-year-old girl are documented. The radiographic appearance of another three cases is also described.

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“…A multifocal pattern is characteristic, whereas a simultaneous onset is not mandatory. Around 20% of patients develop pustular rash on the palms and soles [4,7,8,9,10]. Palmoplantar pustulosis is a rare chronic relapsing condition, characterised by deep-seated vesico-pustules, appearing in crops on erythematous and scaling areas, especially on midpalms, thenar and hypothenar eminences, soles and sides of heels.…”

Section: Discussionmentioning

confidence: 99%

Tumour-like bone lesion and palmoplantar pustulosis

et al. 2001

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A 9-year-old girl was admitted to our hospital for evaluation of a swollen, painful right ankle and palmoplantar pustular rash. The past medical history was unremarkable. Five months prior to our evaluation she reported an insigni®cant trauma on her right ankle with subsequent important swelling. Standard X-ray showed no fracture. She was diagnosed as having a sprained ankle and immobilised in a plaster cast without signi®cant improvement. The swelling, in fact, persisted and was associated with pain and limp. Results of several laboratory tests showed normal values for haemoglobin, WBC, platelets, CRP and a slight increase in ESR (52 mm/h). One month later, a non-itching dyskeratotic eruption appeared on both palms and soles. The girl was diagnosed as having dyshydrosis probably caused by increased environmental temperature and psychological distress for osteoarticular pain. Despite biofeedback treatment, symptoms persisted unchanged.On admission the clinical examination revealed an important swelling of the external malleolus of the right ankle, with a tumour-like appearance. A limping gait was evident, despite normal tibiotarsal range of motion. There were pustular and dyskeratotic lesions on both palms and soles, particularly on the heels (Fig.1). Body temperature was normal. The dermatological evaluation lead to the diagnosis of palmoplantar pustulosis. Laboratory studies showed normal values for haemoglobin, WBC, platelets, CRP, serum IgG, IgA, IgM, protein electrophoresis and bacterial cultures. A slight increase in ESR (41 mm/h) was present. Tests for antinuclear antibodies and rheumatoid factor were negative. Ophthalmological slit lamp examination was normal. Standard X-ray of the tibiotarsal joint showed a thick epiphyseal dysostosis of the right ®bula, with deformed outlines and enlarged bone diameter. In the same area the MRI revealed an osteomyelitic lesion, with contiguous soft tissues in¯ammation. 99 Tc total body scintiscan demonstrated increased tracer uptake at the right external malleolus, but also at the posterior arch of the second left rib and at the great and small trochanter of the right femur (Fig.2). A bone biopsy of the caput ®bulae showed chronic in¯ammation with lymphomonocytic in®l-trate and moderate intertrabecular ®brosis. There were no signs of acute infection and all microbiological cultures of bone fragments were negative for bacteria and fungi. Fig. 2 99 Tc total body scintiscan showing osteomyelitic foci (arrows) Fig. 1 Palmoplantar pustulosis on both palms and soles

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Chronic recurrent multifocal osteomyelitis and psoriasis—A report of a new association and review of related disorders

Cited by 89 publications

References 34 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

Chronic recurrent multifocal osteomyelitis involving the mandible: case reports and review of the literature

Tumour-like bone lesion and palmoplantar pustulosis

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