Thiemann's Disease Research Articles

POS1315 USEFULNESS OF SYNOVIAL BIOPSY IN THE DIFFERENTIAL DIAGNOSIS AND AS POSSIBLE PREDICTOR OF RESPONSE TO TREATMENT IN JUVENILE IDIOPATHIC ARTHRITIS

Background:While synovial biopsy is an invasive procedure and is not required for the diagnosis of juvenile idiopathic arthritis (JIA), it may be useful in doubtful cases.Objectives:Aims of the study were i.to verify the role of synovial biopsy in the differential diagnosis of JIA and ii. to review the pathology slides in order to evaluate possible associations of a histologic pattern with response to treatment.Methods:We reviewed data from medical records of patients under the age of 18 years who underwent a synovial biopsy requested by our Pediatric Rheumatology Unit over the last 10 years. We collected information on demographic, clinical, laboratory, radiological, histopathological characteristics, as well as treatment response (in particular, remission at the last visit and number of examination, number of biologic drugs used). Among variables in the histologic score, number of layers in the synovial lining and inflammatory infiltrate (0-5) were compared to clinical status at last visit. Potential differences in variables between responders and non responders were assessed by unpaired t-test or non-parametric Mann-Whitney test, as appropriate.Results:We identified 64 patients (40F, 24M) with a median age at disease onset of 9 years (range 1-15) and a median follow-up time of 161 months (range 8-1160). We recognized two groups of interest: patients with a known JIA diagnosis (28/64) and patients with unknown diagnosis (36/64) at the moment of synovial biopsy. In the group with known JIA, most underwent the procedure during orthopedic surgery, and in all cases the histology was consistent with JIA. Among the unknown diagnosis group, in 19 cases results were consistent with a chronic synovitis, while among the other 17 histology could lead to a diagnosis of other conditions in 6 cases (foreign body and villonodular synovitis n=2 each, sarcoidosis and osteochondromatosis n=1 each). In the remaining 11 the final diagnoses were varied (mostly genetic forms eg skeletal dysplasia, CACP, Thiemann disease).Between the two groups we identified 46 patients with a definite JIA diagnosis. At the last follow-up visit 29 of them were in clinical remission, albeit on medication. The remaining 17 had a severe course of disease, with persistent activity and use of at least two biologic drugs. In 26 cases we could evaluate the correlation between status at last visit and number of layers/inflammatory infiltrate, but no statistical significant correlation was found.Conclusion:Despite its limited use nowadays, synovial biopsy may still be a useful tool in patients whose diagnosis is unclear. In our study, while it confirmed the suspicion in most cases, in other instances it allowed the diagnosis of rare conditions that would have been otherwise missed. No association between disease course and histological features in a small JIA cohort was found. We are currently expanding the study with a larger series.Disclosure of Interests:None declared

La maladie de Thiemann. À propos d’un cas

Thiemann disease is a rare form of a vascular necrosis which involved the epiphyses of phalanges in PIP and DIP joints leading to deformity of fingers and toes. The clinical symptoms usually appear in adolescence. Thiemann disease is usually familial with an autosomal dominant transmission. Sporadic cases also reported and tend to occur in males. T.L., a 15-year old, presented with a six months history of pain and swelling of the interphalangeal joint of the thumb and the proximal interphalangeal joint of both little finger. He has no history of specific injury, no family history of joint disorder. He has no episode of arthritis. No particular hyper laxity. No metabolic or endocrine disorders. Blood tests was strictly normal. Markers of acute inflammation including C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were within normal limits. Serology for rheumatoid factor, antinuclear antibodies and HLA antigen B27 were also negative. Radiography demonstrated irregularity of the epiphyses of the interphalangeal joint of the thumb. The bones appear broadened, sclerotic. MRI demonstrated osteonecrosis in the head of the proximal phalanx of the thumb and the little finger. This disorder can be distinguished from osteoarthritis, juvenile rheumatoid arthritis, and gout by its early age of onset, equal sex incidence, characteristic joint distribution, and lack of abnormal laboratory findings. The etiology is unknown. Most authors classified Thiemann's disease as a juvenile osteochondritis comparing it with diseases like Calve Perthes, Kienbock, Scheuermann. The role of trauma is undertermined. Although Thiemann's disease was iniatlly described in 1909, few reports of the disease have been published, probably of its relative rarity or of failure of diagnosis. Trauma may worsen the prognosis by deformation of susceptible epiphysis. Treatment is usually symptomatic.

What is your diagnosis?: A young male with deforming arthropathy

A 22-year-male presented with painless swelling with deformities of the proximal interphalangeal joints of 10 years duration. Inflammatory markers were negative. Hand radiograph showed typical changes of Thiemann disease with epiphyseal irregularities. Thiemann disease is a rare genetic disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence or puberty and may be confused with juvenile idiopathic arthritis. Treatment of this condition is usually symptomatic.

Thiemann Disease

Thiemann disease is a rare genetic disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence or puberty and may be confused with juvenile rheumatoid arthritis. The characteristic symmetrical, firm, relatively painless deformity and x-ray findings of the epiphysical irregularities should suggest the diagnosis. As rheumatologists become more familiar with the disease, it may be more frequently and promptly diagnosed.

Thiemann's disease: a case report

In this case report, we describe a patient with the diagnosis of Thiemann's disease, which is a genetically determined rare form of idiopathic avascular necrosis of the proximal interphalangeal joints of the hands.

Thiemann's finger or toe disease. Follow-up of seven cases.

Thiemann's disease is a non-inflammatory disorder of unknown etiology, affecting the epiphyses of the phalanges of the fingers and the first toe in children. We have re-examined seven patients after up to 18 years. Two patients had had pain in the affected digits for several years. In four patients radiographs after closure of the growth plates showed normal phalangeal dimensions without arthrosis. We conclude that different degrees of severity of epiphyseal disturbance consistent with the type described by Thiemann may be encountered. It is possible that trauma may worsen the prognosis by deformation of a susceptible epiphysis.

Tricho-rhino-phalangeal syndrome.

SummaryTwo cases of tricho‐rhino‐phalangeal syndrome are described. This syndrome is one of the well differentiated diseases in the subgroup of peripheral dysostoses. Our cases conform with the condition as reported by Klingmueller and Giedion. The features which help to identify this entity are (I) peculiar facies (2) sparse hair (3) hand and feet deformities (4) usually some shortening of stature. Two additional clinical findings are stressed–bat ears and mental retardation. The importance of radiographic differentiation from other diseases with peripheral ossification disturbances and peripheral dysostoses syndromes, and specifically Thiemann's disease, is stressed.

THIEMANN'S DISEASE

Two brothers with osteochondrosis of the phalangeal epiphyses in the hand (Thiemann's disease) are described and the condition discussed.

Aseptic Necroses in the Epiphyses of Digital Phalanges and Metacarpal Bones (Thiemann's Disease; Dietrich's Disease)

Aseptic Necroses in the Epiphyses of Digital Phalanges and Metacarpal Bones (Thiemann's Disease; Dietrich's Disease)

Aseptic Necroses in the Epiphyses of Digital Phalanges and Metacarpal Bones (Thiemann's Disease; Dietrich's Disease)

Aseptic Necroses in the Epiphyses of Digital Phalanges and Metacarpal Bones (Thiemann's Disease; Dietrich's Disease)