Disease relevance of Acro-Osteolysis

• Pycnodysostosis is a rare inherited osteochondrodysplasia that is caused by mutations of the cathepsin-K gene, characterized by osteosclerosis, short stature, and acroosteolysis of the distal phalanges [1].
• New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C [2].
• We have attempted to critically review and summarise the collective epidemiologic evidence concerning the association of occupational vinyl-chloride exposure with human health outcomes, including cancer, liver cirrhosis, cardiovascular disease, nonmalignant respiratory disease and acroosteolysis [3].
• Angiosarcoma of the liver, Raynaud's phenomenon, scleroderma-like lesions, acroosteolysis and neuritis are known to be typical vinyl chloride-associated manifestations (VC disease) [4].
• A case of Hajdu-Cheney syndrome with acro-osteolysis of the left hand, bizarrely shaped skull, early eruption of permanent teeth and ventricular septal defect is presented [5].

High impact information on Acro-Osteolysis

• Letter: Resorption of the mandible in vinyl chloride acro-osteolysis [6].
• Adult-onset idiopathic progressive acro-osteolysis with proximal symphalangism [7].
• CONCLUSIONS: The S573L homozygous LMNA mutation is associated with a novel phenotype of arthropathy, tendinous calcifications, and progeroid features distinct from the acroosteolysis previously reported in patients with mandibuloacral dysplasia caused by LMNA or ZMPSTE24 mutations [8].
• Cells from a patient with acroosteolysis with osteoporosis responded normally to PTH and 1,25(OH)2D3 [9].
• Carpal tunnel syndrome presenting with ischemic skin lesions, acroosteolysis, and nail changes [10].

Chemical compound and disease context of Acro-Osteolysis

• Although three distinct types of acro-osteolysis, namely familial, idiopathic, and due to vinyl-chloride, are clearly defined, these patients did not fit into any category [11].
• On the initial examinations of a 17-year-old boy with acro-osteolysis syndrome, the levels of serum 25-hydroxycholecalciferol (25OHD) were low, whereas serum levels of 1,25-dihydroxycholecalciferol (1,25(OH)2D) were normal [12].

Biological context of Acro-Osteolysis

• Occupational acro-osteolysis is a serious disease definitely related to the inhalation of agents involved in the polymerization of vinyl chloride [13].

Anatomical context of Acro-Osteolysis

• Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome [14]?

Gene context of Acro-Osteolysis

• Radiological markers of hyperparathyroidism such as acro-osteolysis (score A) and subperiosteal resorption (score B) were more common in patients with abnormalities in autonomic tests than in patients without [15].
• Idiopathic acro-osteolysis in an elderly woman. A 10-year follow-up [16].

References