Search Results (7)

Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant manifestation of a congenital genetic disorder caused by a mutation in the NOTCH2 gene. NOTCH signaling has variations from NOTCH 1 to 4 and maintains homeostasis by determining and regulating the proliferation and differentiation of various cells. In HCS, the over-accumulated NOTCH2 causes abnormal bone resorption due to its continuous excessive signaling. HCS is characterized by progressive bone destruction, has complex wide-range clinical manifestations, and significantly impacts the patient’s quality of life. However, no effective treatment has been established for HCS to date. There are genetic variants of NOTCH2 that have been reported in the ClinVar database of the U.S. National Institutes of Health. In total, 26 mutant variants were detected based on the American College of Medical Genetics and Genomics (ACMC). To date, there has been no comprehensive compilation of HCS mutations. In this review, we provide the most comprehensive list possible of HCS variants, nucleotide changes, amino acid definitions, and molecular consequences reported to date, following the ACMC guidelines. Full article

A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study. Full article

Hajdu–Cheney syndrome is a rare genetic disease. Its main features include phenotypic variability, age-dependent progression and the presence of acroosteolysis of the distal phalanges and generalized osteoporosis, which have significant disabling potential. Currently, there is no effective curative treatment, so nursing care is essential to ensure the maintenance of the quality of life of these patients. The main objective of this study was to establish a specific standardized nursing care plan using the NANDA–NIC–NOC taxonomy. The application of a care plan as such would improve the quality of life of patients affected by this rare disease, will contribute to increasing healthcare professionals’ knowledge on this matter and will support future studies on this disease. Full article

Background: Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists. Methods: This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. The schema of the qualification process is represented by a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). In total, 196 articles were identified; after provisional assessment of the titles and abstracts by two reviewers, 46 were found to be relevant to the topic, including 1 review, 16 original papers, and 27 case reports regarding systemic disease resulting in premature tooth loss. Results: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon–Lefèvre syndrome, mucocutaneous dyskeratosis, Coffin–Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypophosphatasia, acatalasia, Chediak–Higashi syndrome, cyclic neutropenia, erythromelalgia, Down syndrome, Hajdu–Cheney syndrome, short bowel syndrome, leukocyte adhesion deficiency type 1 (LAD-1), and Wiedemann–Steiner syndrome (WSS). Full article

This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an intermittent mild neutropenia. The patient received treatment with bisphosphonates and was awaiting evaluation for surgical arthroplasty of both hips when she suffered a motor vehicle accident, which led to a rapid progression in her disease by increasing her degree of dependence for most activities of daily living. The clinical presentation and radiologic findings seen in this case confirm the three main features of the syndrome: phenotypic variability, an age-dependent progression and the presence of generalized osteoporosis and acroosteolysis of distal phalanges. The main objective of the manuscript is to describe a new case of a patient diagnosed with Hajdu–Cheney syndrome. Due to the low prevalence of the syndrome and the small number of cases reported in the scientific literature, obtaining a complete description and a global perspective of the disease is complex. Full article

Background: Hajdu-Cheney syndrome (HCS) is a very rare autosomal-dominant congenital disease associated with mutations in the NOTCH2 gene. This disorder affects the connective tissue and is characterized by severe bone resorption. Hajdu-Cheney syndrome most frequently affects the head and feet bones (acroosteolysis). Case report: We present an extremely rare case of a 34-year-old male with Hajdu-Cheney syndrome. The patient was admitted to the Department of Oral Surgery, Medical University of Gdańsk, in order to perform the extraction of three teeth. These teeth were not eligible for conservative treatment and prosthetic reconstruction. The patient was treated with denosumab (angiogenesis and receptor activator of nuclear factor-κB RANK ligand inhibitor, RANKL). Discussion: Denosumab is a monoclonal antibody against RANKL. This drug works through a suppression of osteoclast activity. In cases of patients in which the pathway of the RANK/RANKL/osteoprotegerin is dysregulated, denosumab has been approved for the treatment off-label. In patients receiving denosumab, a delayed wound healing in the oral cavity and osteonecrosis may occur. Dental procedures involving the alveolar bone process (tooth extractions and bone alveoloplasty) may be a risk factor for medication-related osteonecrosis of the jaw (MRONJ). Spontaneous osteonecrosis is rarely observed. MRONJ consists of the destruction of exposed bone, with the exposure persisting for a minimum of 6–8 weeks. This is the first article about an HCS patient treated with denosumab who underwent invasive oral surgery procedures. This case report highlights the difficulties for professionals occurring during the oral surgery procedures in such patients. Full article

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 NOTCH2. 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. Full article