Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.
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http://dx.doi.org/10.1007/BF00973996 | DOI Listing |
Am J Med Genet A
January 2023
Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland, USA.
Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems.
View Article and Find Full Text PDFRheumatology (Oxford)
June 2021
Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester & Salford Royal NHS Foundation Trust, Manchester, UK.
Calcinosis cutis, defined as sub-epidermal deposition of calcium salts, is a major clinical problem in patients with SSc, affecting 20-40% of patients. A number of recognized factors associated with calcinosis have been identified, including disease duration, digital ischaemia and acro-osteolysis. Yet, to date, the pathogenesis of SSc-related calcinosis remains unknown, and currently there is no effective disease-modifying pharmacotherapy.
View Article and Find Full Text PDFCurr Opin Rheumatol
November 2018
Stanford University School of Medicine and Palo Alto VA Healthcare System, Division of Immunology and Rheumatology, and Dermatology, Palo Alto, California, USA.
Purpose Of Review: To provide an update on the available literature regarding the epidemiology, pathophysiology, diagnosis, and treatment of calcinosis cutis in patients with systemic sclerosis (SSc).
Recent Findings: We identified observational studies that describe the frequency of calcinosis in SSc and associated clinical features; molecular studies exploring potential pathogenic mechanisms; and case reports and case series describing new diagnostic approaches and treatments.
Summary: Calcinosis cutis is the deposition of insoluble calcium in the skin and subcutaneous tissues.
Int J Pediatr Otorhinolaryngol
April 2017
Marmara University, School of Medicine, Department of Otorhinolaryngology, Fevzi Çakmak Parish MuhsinYazıcıoğlust. No: 10, Kaynarca, Pendik, Istanbul, Turkey. Electronic address:
Aim: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis.
View Article and Find Full Text PDFIntractable Rare Dis Res
August 2014
Department of Pediatric Endocrinology, Marmara University, Istanbul, Turkey.
Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue.
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