- Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings. [Journal Article]
- CGCytogenet Genome Res 2019 Jun 15
- Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy,…
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in the HPGD gene in chromosome 4q34.1 or the SLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, MRI, and ultrasonographic features of the case. These clinical and imaging findings were compatible with the diagnosis of PHO, and a novel homozygous mutation, c.576C>G, p.Ile192Met, was found in SLCO2A1.
- Radiographic Presentation of Delayed Diagnosis of Charcot Foot in a 56-Year-Old Patient With No Reported History of Diabetes: A Case Report. [Case Reports]
- JCJ Chiropr Med 2019; 18(1):61-66
- CONCLUSIONS: Some patients with type 2 diabetes may present with covert manifestations and other symptoms, such as a history of unexplained foot pain. The patient in this case with diabetes-induced neuropathic osteoarthropathy demonstrates that these findings should raise suspicion and result in an appropriate follow-up investigation.
- Feet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study. [Journal Article]
- OTOrtop Traumatol Rehabil 2019 Apr 30; 21(2):123-129
- Pachydermoperiostosis is a rare condition representing a primary form of hypertrophic osteoarthropathy. It presents in different stages. Patients often overlook early symptoms, because they are benig…
Pachydermoperiostosis is a rare condition representing a primary form of hypertrophic osteoarthropathy. It presents in different stages. Patients often overlook early symptoms, because they are benign. The most common manifestations are clubbing of the fingers and toes, skin thickening with characteristic folds on the face and head and widening of joints accompanied by radiological changes. Surgical treatment is not often needed, and, consequently, there are no strict guidelines on surgical management, which is mainly based on case report ana-lysis. This paper presents a case of surgical management of pachydermoperiostosis.
- [Differentiated treatment of patients with diabetic foot syndrome at the stage of specialized surgical care]. [Journal Article]
- KKhirurgiia (Mosk) 2019; (5):42-51
- CONCLUSIONS: DFOP is a key organizational unit of specialized medical care for patients with DFS. Regular follow-up of patients in DFOP and combined treatment at the stage of specialized surgical care allows to preserve limb in 99% of patients with neuropathic foot and in 86.3% of patients with neuroischemic foot.
- Nociceptive pain unmasking a serious pathology - paraneoplastic hypertrophic osteoarthropathy: A case report. [Case Reports]
- MMedicine (Baltimore) 2019; 98(23):e15900
- CONCLUSIONS: This is an interesting case of a patient with an overlooked pathology, which was refereed to our clinic for further investigations of a pain that was considered neuropathic, secondary to small cervical protrusions. Conversely, the pain proved to be nociceptive and Pierre Marie-Bamberger syndrome was the positive diagnosis in our patient, as it can be associated with numerous diseases, especially of neoplastic origin.
- Early Foot Structural Changes After Lateral Column Exostectomy in Patients With Charcot Foot. [Journal Article]
- IJInt J Low Extrem Wounds 2019 May 21; :1534734619848553
- Although exostectomy for chronic midfoot plantar ulcers in Charcot foot is apparently effective, with healing rates of nearly 75%, a subset of patients develop recurrent ulceration and show an unstab…
Although exostectomy for chronic midfoot plantar ulcers in Charcot foot is apparently effective, with healing rates of nearly 75%, a subset of patients develop recurrent ulceration and show an unstable foot position, especially after undergoing exostectomy confined to the lateral column. The reasons for this failure have not been investigated. The main objective of this study was to evaluate the early changes in radiographic alignment after an exostectomy in patients with Charcot neuropathic osteoarthropathy (rocker bottom) and plantar ulcer located in the lateral column. The present study evaluated retrospectively changes in radiographic alignment after an exostectomy in 12 Charcot feet (rocker bottom) with plantar ulcer located in the lateral column. Indication for plantar exostectomy was the treatment of ulcer affected by osteomyelitis. We evaluated the early changes in the alignment of the foot on weight-bearing lateral radiographs 6 months after exostectomy. Paired sample Wilcoxon test was used to calculate the differences between preoperative and postoperative measurements. Furthermore, the relationship between revision surgery and early changes in radiographic angular measurements was determined by using the Mann-Whitney U test. After exostectomy, the inclination of the calcaneal bone decreased (P = .003; r = 0.849) and declination of talus bone increased (P = .041; r = 0.589). The change in calcaneal inclination was associated with revision surgery (P = .042; r = 0.586). The present case series demonstrates that exostectomy procedure for the lateral column in patients with Charcot foot results in radiological changes in the hindfoot over the sagittal plane. The inversion of the calcaneal pitch angle suggests the possibility of further adverse events and the need for revision surgery.
- Combination of kartogenin and transforming growth factor-β3 supports synovial fluid-derived mesenchymal stem cell-based cartilage regeneration. [Journal Article]
- AJAm J Transl Res 2019; 11(4):2056-2069
- Synovial fluid-derived mesenchymal stem cells (SF-MSCs) represent a superior source of stem cells and have great potential for autologous transplantation for cartilage regeneration. Transforming grow…
Synovial fluid-derived mesenchymal stem cells (SF-MSCs) represent a superior source of stem cells and have great potential for autologous transplantation for cartilage regeneration. Transforming growth factor-β3 (TGF-β3) has been demonstrated to stimulate the chondrogenic differentiation of MSCs. Recently, the small molecule kartogenin (KGN) was reported to enhance chondrogenic differentiation and cartilage regeneration. The effects of KGN and TGF-β3 on the in vitro chondrogenic differentiation of rabbit SF-MSCs were studied. The monolayer and pellet cultures of rabbit SF-MSCs were stimulated in vitro using either KGN or TGF-β3 alone or in combination for 21 days. The in vivo therapeutic effects of KGN combined with TGF-β3 were studied using an intra-articular delivery of autologous rabbit SF-MSCs to cartilage defects in a rabbit model. Compared to a single treatment, the in vitro results demonstrated that the combination of KGN and TGF-β3 resulted in significantly increased protein expression levels of type II collagen (COL II) and SRY-box 9 (SOX9) and decreased the expression level of type X collagen (COL X). Compared with the regenerated cartilage in the single treatment groups, the intra-articular injection of rabbit SF-MSCs mixed with TGF-β3 and KGN exhibited substantial amounts of regenerated cartilage in the defective areas in the medial femoral condyles. We noted that the thicker, hyaline-like cartilaginous tissue contained abundant levels of extracellular matrix, which is characteristic of cartilage. This study demonstrated that TGF-β3 and KGN exhibit synergistic effects for the promotion of the chondrogenesis of rabbit SF-MSCs and can effectively repair cartilage defects through the regeneration of hyaline cartilage.
- Voriconazole-associated periostitis presenting as hypertrophic osteoarthropathy following lung transplantation report of two cases and review of the literature. [Review]
- SASemin Arthritis Rheum 2019 Apr 25
- CONCLUSIONS: We highlight the importance of recognizing the association of voriconazole with painful HOA and periostitis in lung transplant patients receiving antifungal therapy. Management of this painful condition involves cessation of voriconazole therapy, which may necessitate alternative anti-fungal drug therapies as well as adjustment of immunosuppressive drug dosage since voriconazole is a strong drug-inducer.
- StatPearls: Osteoarthropathy Hypertrophic [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Hypertrophic osteoarthropathy (HOA), consists of the presence of digital clubbing, increased periosteal activity of the tubular bones, arthralgias, and joint effusion and is characterized by abnormal…
Hypertrophic osteoarthropathy (HOA), consists of the presence of digital clubbing, increased periosteal activity of the tubular bones, arthralgias, and joint effusion and is characterized by abnormal proliferation of the skin, soft tissues and osseous tissues in the distal parts of extremities. There are two forms of the disease - primary and secondary. Primary HOA (PHO), also called pachydermoperiostosis, comprises of digital clubbing, periostosis, and pachydermia and is a rare genetic disease, while secondary hypertrophic osteoarthropathy is associated with a variety of pulmonary, cardiac and other conditions. Clubbing is among the oldest signs in clinical medicine, first described in a man with curved fingernails and empyema by Hippocrates (460 BC - 370 BC).  Friedreich was the first to scientifically describe primary hypertrophic osteoarthropathy in 1868 as "hyperostosis of the entire skeleton" in two affected brothers. Touraine, Solente, and Gole in 1935 distinguished PHO as the primary form of HOA and distinct from HOA associated with an underlying disease like pulmonary or cardiac disease. 
New Search Next
- Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. [Journal Article]
- MGMol Genet Genomic Med 2019 May 07; :e715
- CONCLUSIONS: The results indicate a potential association between ITPR2 and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects.