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The Indian Journal of Medical Research Jul 2016
Topics: Acro-Osteolysis; Aged; Bone Resorption; Calcinosis; Female; Humans
PubMed: 27834340
DOI: 10.4103/0971-5916.193303 -
QJM : Monthly Journal of the... Feb 2017
PubMed: 28040705
DOI: 10.1093/qjmed/hcw211 -
South African Medical Journal =... Nov 1973
Topics: Adolescent; Bone Resorption; Facial Expression; Fingers; Humans; Male; Radiography; Radius; Skull; Syndrome; Toes
PubMed: 4755026
DOI: No ID Found -
Skeletal Radiology 1981
Topics: Adolescent; Bone Resorption; Fingers; Humans; Male; Music; Osteolysis; Radiography; Stress, Mechanical
PubMed: 7292025
DOI: 10.1007/BF00347201 -
Rheumatology (Oxford, England) Jun 2020
Topics: Acro-Osteolysis; Adult; Fingers; Humans; Male; Mixed Connective Tissue Disease; Skin Ulcer
PubMed: 31665458
DOI: 10.1093/rheumatology/kez515 -
Medizinische Monatsschrift May 1972
Topics: Bone Resorption; Diagnosis, Differential; Female; Foot Diseases; Humans; Middle Aged; Osteolysis, Essential
PubMed: 5084169
DOI: No ID Found -
Acta Orthopaedica Et Traumatologica... Jan 2017Acro-osteolysis is a rare disease characterized by bone resorption involving the distal phalanges of the hand. We present a unique case of progressive acro-osteolysis of...
Acro-osteolysis is a rare disease characterized by bone resorption involving the distal phalanges of the hand. We present a unique case of progressive acro-osteolysis of the distal phalanges and articular calcifications in a patient with scleroderma. The calcified deposit in a proximal interphalangeal joint was excised under local anesthesia. The medical treatment was arranged under the supervision of a rheumatologist.
Topics: Acro-Osteolysis; Antirheumatic Agents; Calcinosis; Female; Finger Joint; Finger Phalanges; Glucocorticoids; Humans; Methotrexate; Middle Aged; Orthopedic Procedures; Radiography; Scleroderma, Limited; Treatment Outcome; Wrist Joint
PubMed: 28017514
DOI: 10.1016/j.aott.2015.03.003 -
Pediatric Rheumatology Online Journal Jul 2022Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be...
BACKGROUND
Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a sign of local distress (e.g. of toxic origin), but is very often a sign of a constitutional or systemic acquired disorder.
CASE PRESENTATION
A 15-year-old girl was referred to a paediatric rheumatologist for recurrent pain in her fingertips. She presented a particular cross-sectional AO associated with the presence of intraosseous cysts and bone fragility with atypical fractures. Initial laboratory tests and radiological examination did not allow an etiological diagnosis. Genetic studies revealed a 12p11.22-p11.23 microduplication of 900 kb including the PTHLH (parathyroid hormone-like hormone) gene, which encodes for a hormone involved in the regulation of endochondral ossification and differentiation of chondrocytes, via its PTHLH receptor.
CONCLUSIONS
To date, 12p11.22-p11.23 duplications have been reported in five families with skeletal abnormalities, and in particular AO and enchondromatosis associated with bone fragility. This new observation, added to the other reported cases, suggests a close relationship between the presence of this microduplication and the skeletal abnormalities found in the patient. We suggest the descriptive name ABES (acro-osteolysis, bone fragility and enchondromatosis syndrome) to designate this disorder.
Topics: Acro-Osteolysis; Adolescent; Child; Cross-Sectional Studies; Enchondromatosis; Female; Humans; Parathyroid Hormone-Related Protein; Radiography
PubMed: 35908058
DOI: 10.1186/s12969-022-00720-8 -
Acta Radiologica (Stockholm, Sweden :... Mar 1994
Topics: Adult; Female; Fingers; Humans; Osteolysis, Essential; Radiography; Syndrome; Toes
PubMed: 8172752
DOI: No ID Found -
Handchirurgie, Mikrochirurgie,... Jun 1983A case of essential carpal osteolysis is reported. The morphological appearance of the hands is described. They showed ulnar deviation; they were short and pudgy, the...
A case of essential carpal osteolysis is reported. The morphological appearance of the hands is described. They showed ulnar deviation; they were short and pudgy, the carpus and metacarpus being almost absent. The fingers were normal, but the left thumb was atrophic. Radiographies of the left hand showed an almost complete disappearance of the carpus and severe irregularities of the ulna and radius. Aetiology, treatment and prognosis are briefly discussed.
Topics: Adult; Bone Resorption; Bone and Bones; Female; Hand; Hand Deformities, Congenital; Humans; Osteolysis, Essential; Radiography
PubMed: 6884868
DOI: No ID Found