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Journal of Clinical Rheumatology :... Apr 2023
Topics: Humans; Acro-Osteolysis; Fingers
PubMed: 36870083
DOI: 10.1097/RHU.0000000000001943 -
BMJ Case Reports Mar 2021Sarcoidosis is characterised by the formation of noncaseating granulomas classically affecting lungs, lymph nodes and skin. Osteoarticular involvement affects up to 15%...
Sarcoidosis is characterised by the formation of noncaseating granulomas classically affecting lungs, lymph nodes and skin. Osteoarticular involvement affects up to 15% of patients; however, acro-osteolysis, destruction involving distal phalanges of fingers and toes, associated with sarcoidosis, is extremely rare. A 44-year-old woman with a history of biopsy-proven sarcoidosis managed with prednisone and methotrexate presented with swelling and pain in the distal fingers of her right hand without skin manifestations. Radiographic imaging showed erosion of distal phalanges on second, third and fifth fingers and bone resorption in bilateral toes. A biopsy of the finger lesions showed noncaseating granulomas consistent with sarcoidosis. She was diagnosed with sarcoid acro-osteolysis and started on adalimumab with clinical and radiographic improvement. While most cases of osteoarticular sarcoidosis are asymptomatic and respond to standard immunosuppression, we present a case with progressive and refractory clinical course. This is the first reported case of sarcoid acro-osteolysis affecting the toes.
Topics: Acro-Osteolysis; Adult; Female; Fingers; Hand; Humans; Sarcoidosis; Toes
PubMed: 33653863
DOI: 10.1136/bcr-2020-240828 -
Mayo Clinic Proceedings Oct 2023
Topics: Humans; Acro-Osteolysis; Fingers
PubMed: 37793727
DOI: 10.1016/j.mayocp.2023.05.015 -
Skeletal Radiology Jan 2023Acro-osteolysis is the osseous destruction of the hand or foot distal phalanges. The categories of the disease include terminal tuft, midshaft, or mixed types.... (Review)
Review
Acro-osteolysis is the osseous destruction of the hand or foot distal phalanges. The categories of the disease include terminal tuft, midshaft, or mixed types. Recognition of acro-osteolysis is straightforward on radiographs, but providing an accurate differential diagnosis and appropriately recommending advanced imaging or invasive tissue diagnosis can be more elusive. A radiologist's ability to provide advanced assessment can greatly aid clinicians in expedient diagnosis and management of the array of diseases presenting with acro-osteolysis.
Topics: Humans; Diagnosis, Differential; Acro-Osteolysis; Finger Phalanges; Hand; Radiography; Osteolysis
PubMed: 35969258
DOI: 10.1007/s00256-022-04145-y -
ACR Open Rheumatology Oct 2019
PubMed: 31777834
DOI: 10.1002/acr2.11072 -
Clinical Rheumatology Jul 2024
Topics: Humans; Acro-Osteolysis; Scleroderma, Systemic; Female; Middle Aged; Radiography
PubMed: 38767709
DOI: 10.1007/s10067-024-06988-3 -
QJM : Monthly Journal of the... Feb 2022
Topics: Acro-Osteolysis; Calcinosis; Humans; Scleroderma, Systemic
PubMed: 34963011
DOI: 10.1093/qjmed/hcab331 -
AACE Clinical Case Reports 2020To present a case of pyknodysostosis (PKND), a rare genetic cause of skeletal dysplasia that often goes undiagnosed even in patients with classic features.
OBJECTIVE
To present a case of pyknodysostosis (PKND), a rare genetic cause of skeletal dysplasia that often goes undiagnosed even in patients with classic features.
METHODS
We report a case of PKND that went undiagnosed over many years despite classic features. We performed physical examination, imaging studies, and genetic testing on the patient.
RESULTS
A 21-year-old female presented to endocrinology to establish care. On evaluation, she was noted to have disproportionate short stature and a past medical history notable for bilateral blindness due to optic atrophy secondary to bone enlargement and thickening of the optic nerve canal before age 7 years. She also had a history of foot fractures occurring with ambulation. Her family history was significant for consanguineous parents and relatives with similar clinical features. Physical examination revealed a short, 128-cm tall female with open anterior and mastoid fontanels, mild frontal bossing and micrognathia, evidence of double rows of teeth, and digits of varied length in both hands and feet. Plain radiographs demonstrated diffuse sclerosis and marked cortical thickening of the pelvis, femurs, metacarpals, proximal phalanges, and metatarsals as well as decreased phalangeal length and acro-osteolysis of the hands and feet. Dual energy X-ray absorptiometry demonstrated increased bone mineral density ( scores +2.5 lumbar spine, +3.7 femoral neck, +4.5 total hip). Genetic testing revealed a exon 5-homozygous mutation in the cathepsin K () gene consistent with PKND.
CONCLUSION
Patients with PKND come to medical attention for a variety of reasons but often go undiagnosed even when presenting with classic features due to the rarity of the condition and the overlap with other skeletal dysplasias.
PubMed: 32984533
DOI: 10.4158/ACCR-2020-0169 -
Seminars in Arthritis and Rheumatism Apr 2020Musculoskeletal (MSK) involvement of the hands is a significant source of morbidity, impacting on quality of life in patients with systemic sclerosis (SSc). MSK... (Review)
Review
Musculoskeletal (MSK) involvement of the hands is a significant source of morbidity, impacting on quality of life in patients with systemic sclerosis (SSc). MSK complications are common in SSc and can affect the whole of the MSK system. MSK hand involvement can occur early in the course of the disease. A wide range of articular involvement is recognised including from arthralgia to inflammatory joint and tendon disease. Mechanistic insights have been made into enthesitis, hand contractures and tendon friction rubs and could inform the development inform novel treatment approaches to MSK involvement in SSc. Bony involvement can include osteomyelitis from digital ulceration. Other important manifestations include (but are not limited to) calcinosis, acro-osteolysis and carpal tunnel syndrome. MSK imaging is an important tool that allows insight into both disease pathogenesis and to inform the clinical management of MSK complications. The purpose of this review is to provide an overview of the MSK hand complications in patients with SSc, highlighting the breadth and burden of pathology relevant to clinical practice.
Topics: Arthralgia; Calcinosis; Hand; Humans; Musculoskeletal Diseases; Scleroderma, Systemic; Tendinopathy
PubMed: 31812353
DOI: 10.1016/j.semarthrit.2019.11.003 -
Clinical and Experimental Rheumatology 2021Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited....
OBJECTIVES
Acro-osteolysis is often associated with systemic sclerosis (SSc). However, the severity of acro-osteolysis and its clinical association among SSc patients is limited. Our aims were to assess the prevalence of acro-osteolysis and the clinical association with acro-osteolysis among SSc patients at early onset of the disease.
METHODS
A cross-sectional study of 120 newly diagnosed SSc patients with the onset of less than 4 years were evaluated on clinical characteristics and hand radiographs. Acro-osteolysis was graded on a 0-4-point scale based on the severity and the patients were subdivided into mild, moderate and severe.
RESULTS
Among all SSc patients enrolled, 62.5% were females, 56.1% dcSSc and the vast majority of them (84.1%) were positive for anti-topoisomerase I antibody (anti-topo I). The mean disease duration was 2.0±1.3 years. Acro-osteolysis was noted in 77 patients with a prevalence of 64.1% (95%CI 54.9-72.7), of which 16.7% were defined as severe acro-osteolysis. Logistic regression analysis revealed that acro-osteolysis was positively associated with anti-topo I (OR 13.96), hand deformity (OR 3.81) and dysphagia (OR 6.66), but negatively associated with oedematous skin (OR 0.05). Analysis stratified by severity of acro-osteolysis showed significant differences between subgroup in terms of the presence of digital gangrene (p=0.02), ischaemic ulcer (p=0.001), oedematous skin (p=0.001), and hand deformities (p=0.01).
CONCLUSIONS
Acro-osteolysis was common in SSc at the early onset of disease. While the presence of anti-topo I, hand deformity and esophageal involvement were strongly associated with acro-osteolysis, oedematous skin was the protective factor for acro-osteolysis.
Topics: Acro-Osteolysis; Cross-Sectional Studies; Female; Humans; Prevalence; Scleroderma, Diffuse; Scleroderma, Systemic
PubMed: 33427611
DOI: 10.55563/clinexprheumatol/vggbdq