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Indian Journal of Dermatology Nov 2012A 25-year-old woman patient presented with shortening of fingers with racket nails and numerous yellowish papules over the hands and forearms for 21 years. X-ray of the...
A 25-year-old woman patient presented with shortening of fingers with racket nails and numerous yellowish papules over the hands and forearms for 21 years. X-ray of the hands revealed destructive osteolytic changes in all the terminal phalanges. Skin biopsy from the yellowish papules showed epidermal proliferation, perivascular mononuclear infiltrate, thickening of dermal collagen, septal fibrosis and loss of adipocytes mimicking sclerodermatous changes in the dermis and hypodermis. The patient did not have any history of similar illness in the family or occupational exposure to vinyl chloride. After excluding all other possibilities of acral-osteolysis, we diagnosed the case as idiopathic non-familial variety of acro-osteolysis. This is a rare entity characterized by terminal resorption of fingers, sometimes associated with Raynaud's phenomena and yellowish cutaneous papules.
PubMed: 23248369
DOI: 10.4103/0019-5154.103071 -
Mediterranean Journal of Rheumatology Sep 2020Systemic sclerosis (SSc) is a chronic connective tissue disease with the clinical hallmark of skin thickening and tethering. Correlation of musculoskeletal features with...
AIM
Systemic sclerosis (SSc) is a chronic connective tissue disease with the clinical hallmark of skin thickening and tethering. Correlation of musculoskeletal features with other parameters should be considered in SSc patients.
METHODS
We reviewed the records of all patients who had more than one visit and standard anteroposterior radiography of hand. We used univariate analysis, and factors with p<0.05 were included in logistic regression to find out dependent factors.
RESULTS
Overall, 180 SSc patients were enrolled in our study, 161 (89.4%) of whom were women. Median age (IQR) was 47.0 years (16), and 52% had diffuse subtype of the disease. In multivariate analysis, tendon friction rubs (TFRs) was associated with the presence of calcinosis, muscle tenderness, and flexion contracture (FC) on physical examination (p<0.05). Arthritis showed no differences in the two subtypes of the disease (p=0.98), and in multivariate analysis, there were no correlations between radiographic arthritis and serological and clinical features. The radiographic results indicated that disease duration correlated with joint erosion, acro-osteolysis, resorption of distal ulna, calcinosis and radiologic FC (p< 0.05). Acro-osteolysis was more frequent in the dcSSc subtype, TFRs, and anti-TOPO I antibody. Radiologic FC showed association with skin score, calcinosis and haematocrit <30% (p<0.05). Joint flexion on radiography was associated with disease duration, modified Rodnan skin score, calcinosis, and low haematocrit (P<0.01).
CONCLUSION
Disease duration was a main dependent factor for developing joint erosion, acro-osteolysis, bone resorption, calcinosis, and flexion contracture on hand radiography. Acro-osteolysis presented in the severe form of the disease. Acro-osteolysis was the only dependent variable associated with bone demineralization.
PubMed: 33163868
DOI: 10.31138/mjr.31.3.341 -
The Open Dentistry Journal 2016Hajdu-Cheney Syndrome (HCS) is a rare hereditary bone metabolism disorder characterized by acro-osteolysis, short stature, craniofacial changes, periodontitis and...
BACKGROUND
Hajdu-Cheney Syndrome (HCS) is a rare hereditary bone metabolism disorder characterized by acro-osteolysis, short stature, craniofacial changes, periodontitis and premature tooth loss. Extensive search of the current literature revealed no reports of implant placement in patients with HCS.
CASE REPORT
A 22-year old woman with osteoporosis, generalized advanced chronic periodontitis and premature tooth loss was referred to the Postgraduate Clinic of Periodontology, University of Athens-Greece. The patient was diagnosed in 2001 with HCS. The patient received non-surgical periodontal treatment and several teeth were extracted due to extensive alveolar bone loss. After careful consideration of the possible implications deriving from the patient's condition and having taken her young age into account, initially, a dental implant was placed in the upper right first premolar region. Specific protocols such as longer healing periods were implemented, so five years after placement and successful osseointegration of this implant, four additional dental implants were placed in the posterior regions of the maxilla and the mandible. Prosthetic rehabilitation followed 6 months after implant placement. Upon completion of periodontal treatment, the patient was enrolled in a periodontal maintenance program.
RESULTS
Clinical and radiographic examination of the patient during the periodontal maintenance program after implant placement revealed no abnormalities in the implant region.
CONCLUSION
Patients with HCS suffer from periodontitis, bone destruction and premature tooth loss. This case indicates the successful osseointegration of dental implants in patients with HCS. However, further research is required in order to determine the predictability of dental implant placement in those patients.
PubMed: 27857819
DOI: 10.2174/1874210601610010575 -
International Journal of Environmental... Aug 2020Hajdu-Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal...
Hajdu-Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is . The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu-Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter.
Topics: Acro-Osteolysis; Hajdu-Cheney Syndrome; Humans; Mutation; Osteoporosis; Phenotype; Radiography; Rare Diseases; Receptor, Notch2
PubMed: 32854429
DOI: 10.3390/ijerph17176174 -
Medicina Oral, Patologia Oral Y Cirugia... Oct 2008Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the... (Review)
Review
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis is established with osteopetrosis, cleidocranial dysplasia and idiopathic acro-osteolysis. This article reviews the clinical and radiographic characteristics of pycnodysostosis based on three clinical cases of patients with this disease.
Topics: Abnormalities, Multiple; Adult; Bone and Bones; Dwarfism; Female; Humans; Jaw Abnormalities; Male; Middle Aged
PubMed: 18830170
DOI: No ID Found -
Seminars in Arthritis and Rheumatism Oct 2020Calcinosis is a debilitating complication of systemic sclerosis (SSc) with no effective treatments. We sought to identify clinical correlations and to characterize...
OBJECTIVE
Calcinosis is a debilitating complication of systemic sclerosis (SSc) with no effective treatments. We sought to identify clinical correlations and to characterize complications and disability associated with calcinosis in a multi-center, international cohort of SSc patients.
METHODS
We established a cohort of 568 consecutive SSc patients who fulfill 2013 revised ACR/EULAR criteria at 10 centers within North America, Australia, and Mexico. Calcinosis was defined as subcutaneous calcium deposition by imaging and/or physical examination, or a clear history of extruded calcium. All patients completed the Scleroderma Health Assessment Questionnaire Disability Index and Cochin Hand Functional Scale.
RESULTS
215 (38%) patients had calcinosis. In multivariable analysis, disease duration (OR=1.24, p = 0.029), digital ischemia (OR=1.8, p = 0.002) and Acro-osteolysis (OR=2.97, p = 0.008) were significantly associated with calcinosis. In the subset of patients with bone densitometry (n = 68), patients with calcinosis had significantly lower median T-scores than patients without (-2.2 vs. -1.7, p = 0.004). The most common location of calcinosis lesions was the hands (70%), particularly the thumbs (19%) with decreasing frequency moving to the fifth fingers (8%). The most common complications were tenderness (29% of patients) and spontaneous extrusion of calcinosis through the skin (20%), while infection was rare (2%). Disability and hand function were worse in patients with calcinosis, particularly if locations in addition to the fingers/thumbs were involved.
CONCLUSIONS
We confirmed a strong association between calcinosis and digital ischemia. Calcinosis in SSc patients most commonly affects the hands and is associated with a high burden of disability and hand dysfunction.
Topics: Acro-Osteolysis; Calcinosis; Hand; Humans; Ischemia; Scleroderma, Systemic
PubMed: 32898758
DOI: 10.1016/j.semarthrit.2020.06.007 -
American Journal of Human Genetics Feb 2015Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental...
Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root resorption), osteopenia, and acro-osteolysis. To determine the molecular etiology of this disease, we performed whole-exome sequencing and targeted Sanger sequencing. We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome. Immunohistochemistry demonstrated the localization of MDA5 in all affected target tissues. In vitro functional analysis revealed that the IFIH1 c.2465G>A mutation enhanced MDA5 function in interferon beta induction. Interferon signature genes were upregulated in SMS individuals' blood and dental cells. Our data identify a gain-of-function IFIH1 mutation as causing SMS and leading to early arterial calcification and dental inflammation and resorption.
Topics: Amino Acid Sequence; Aortic Diseases; Arteries; Base Sequence; Calcinosis; DEAD-box RNA Helicases; Dental Enamel Hypoplasia; Exome; Genes, Dominant; Humans; Immunohistochemistry; Interferon-Induced Helicase, IFIH1; Interferon-beta; Metacarpus; Models, Molecular; Molecular Sequence Data; Muscular Diseases; Mutation, Missense; Odontodysplasia; Osteoporosis; Pedigree; Phenotype; Sequence Analysis, DNA; Tooth Abnormalities; Vascular Calcification
PubMed: 25620204
DOI: 10.1016/j.ajhg.2014.12.014 -
European Journal of Medical Genetics Feb 2021Pycnodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by variants in the cathepsin K gene (CTSK). Clinical features include short...
BACKGROUND
Pycnodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by variants in the cathepsin K gene (CTSK). Clinical features include short stature, bone fragility, characteristic facial features and acro-osteolysis of the distal phalanges. Usually, patients suffer from multiple bone fractures. The purpose of this study was to describe the Danish population of pycnodysostosis patients with respect to genotype, phenotype and the prevalence of complications. We collected medical history, performed clinical examination, collected blood- and urine samples, performed dual-energy x-ray absorptiometry scan (DXA) and high-resolution peripheral quantitative computed tomography scan (HRpQCT) and obtained clinical photos. Information about complications, bone mineral density and bone markers in the blood were collected and analysed.
RESULTS
Ten patients with a median age of 32 years ranging from five to 51 years participated. The pycnodysostosis phenotype varied with respect to the number of bone fractures and degree of complications. DXA and HRpQCT showed high bone mineral density. A tendency of growth hormone treatment escalating growth and increasing final height was seen. A marker of bone resorption measured in blood was within normal range in nine patients and elevated in one patient. A novel pathogenic variant in CSTK causing pycnodysostosis was detected in two related patients. Moreover information about the patients' own health perception was reported. An example being they rated their mental health to be good despite multiple bone fractures.
CONCLUSION
This study provides information about genotypes and phenotypes in a Danish pycnodysostosis population. It reports new data about the complications such as bone fractures and it elucidates the levels of bone turnover markers as well as the density of the bones in one of the biggest cohort of pycnodysostosis patients ever published. An individualised approach to treatment in this patient group is necessary as the phenotype including complications varies between patients. Additional studies are needed to further understand genotype-phenotype correlations.
Topics: Adult; Bone Density; Cathepsin K; Child; Female; Growth Hormone; Humans; Male; Middle Aged; Mutation; Phenotype; Pycnodysostosis; Quality of Life
PubMed: 33429075
DOI: 10.1016/j.ejmg.2021.104135 -
Journal of Bone and Mineral Research :... Dec 1999Hajdu-Cheney syndrome is an autosomal dominant inherited osteodysplastic bone disease with the hallmarks of acro-osteolysis, skull deformations, and generalized...
Hajdu-Cheney syndrome is an autosomal dominant inherited osteodysplastic bone disease with the hallmarks of acro-osteolysis, skull deformations, and generalized osteoporosis. Very few patients have been followed long-term with respect to the prognosis of acro-osteolysis and osteoporosis. Here we describe a 39-year-old woman and her 19-year-old daughter who are both affected with the Hajdu-Cheney syndrome. Skeletal lesions were followed in the mother between the ages of 22 and 39 years. The acro-osteolytic lesions progressed markedly and caused shortening of several fingers; some end phalanges had completely disappeared. Severe spinal osteoporosis with serial vertebral fractures was found at the age of 22 years. New vertebral fractures developed until the age of 33 years, but did not progress afterward. High turnover osteoporosis was found in the bone histology of iliac crest biopsies performed at the ages of 22 and 34 years. Bone mineral content (BMC) was strikingly decreased at the age of 34 years (T score -5.1 SD) and did not significantly change during further follow-up. In the daughter, BMC failed to increase between the ages of 12 and 19 years and was also markedly decreased (T score -4.4 SD). This suggests that osteoporosis in Hajdu-Cheney syndrome is related to a low peak bone mass and a high bone turnover, leading to insufficient bone formation compared with the increased bone resorption.
Topics: Adult; Age Factors; Bone Density; Bone Resorption; Bone and Bones; Female; Follow-Up Studies; Humans; Osteolysis; Osteolysis, Essential; Osteoporosis; Radiography
PubMed: 10620062
DOI: 10.1359/jbmr.1999.14.12.2036 -
Reumatologia Clinica 2016Systemic sclerosis is a rare disease that predominantly affects women. The Medsger severity scale has been used to assess the severity, but it requires expensive and... (Observational Study)
Observational Study
INTRODUCTION
Systemic sclerosis is a rare disease that predominantly affects women. The Medsger severity scale has been used to assess the severity, but it requires expensive and poorly accessible studies and it does not include complications such acrosteolysis, calcinosis, pericardial disease or hypothyroidism that occur on a relatively frequent basis in this disease. There is no study that considers if comorbidities, such as primary biliary cirrhosis, are related to gravity.
OBJECTIVES
To determine the correlation between severity and the presence of such complications.
METHODS
40 patients with systemic sclerosis, dividing them into tertiles according to severity were studied. Dichotomous variables were described using percentages, while dimensional by averages+SD. Statistical inference was performed using chi square test or Kruskal-Wallis test with Dunn post-test, as appropriate. A significance at P<.05 was set.
RESULTS
Of all the complications studied there were only differences in severity with acrosteolysis. Within comorbidities, primary biliary cirrhosis is not associated with gravity.
Topics: Acro-Osteolysis; Adolescent; Adult; Aged; Cross-Sectional Studies; Female; Humans; Liver Cirrhosis, Biliary; Male; Middle Aged; Scleroderma, Systemic; Severity of Illness Index; Young Adult
PubMed: 26746600
DOI: 10.1016/j.reuma.2015.11.002