Bone Hypertrophy Research Articles

Spontaneous multilevel lumbar pediculolysis associated with spondylolysis: a rare case and review of the literature

BackgroundPediculolysis is bone hypertrophy and pseudoarthrosis caused by pedicle fracture and has often been combined with contralateral spondylolysis in previous reports. Multilevel pediculolysis with spondylolysis is extremely rare, and we report a case who underwent surgery. Cases of multisegment pediculolysis were reviewed to inspire the diagnosis and treatment of similar pathological phenomena.Case presentationA 55-year-old man suffering from low back pain and sciatica was admitted to hospital after failing conservative treatment. The imaging studies revealed bilateral pediculolysis at L3 and L4 and right spondylolysis at L5. When L2-5 internal fixation and fusion surgery were performed, the symptoms improved immediately after surgery. At the 2-year postoperative follow-up, proximal junctional failure appeared and progressively worsened.ConclusionsMultilevel pediculolysis often requires surgical intervention, and segment instability is an important consideration in the development of surgical fusion strategies. The etiology of pediculolysis is still complex and unknown, and the spondylolysis protocol can be used as a reference for treatment. Surgeons should be cautious in surgical planning to minimize the likelihood of postoperative instrumentation failure.

Open reduction and plate fixation of fractures of both bones in the forearm in Klippel-Trenaunay-Weber syndrome: a case report

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease characterized by vascular malformations, port-wine staining, and soft tissue and bone hypertrophy. Lesions occur in the lower extremities in 95% of cases, whereas only 5% occur in the upper extremities. Several case reports have described the treatment of fractures in the lower extremities in patients with KTWS. However, the risk of massive bleeding, bone deformity, and poor bone quality can lead to suboptimal surgical outcomes. No reports describing the treatment of forearm shaft fractures in KTWS could be found in the English-language literature. Intramedullary nailing is difficult due to the deformed bone and the risk of nonunion. Open reduction and internal fixation (ORIF) should be considered with caution in KTWS patients due to the risks of intraoperative bleeding and wound problems. The authors report that satisfactory results were obtained with ORIF after preoperative vascular embolization in a 60-year-old KTWS patient with fractures in both bones of the forearm.

A rare case of a 5-year-old girl with Klippel-Trénaunay syndrome and a bleeding focal vulvar hemangioma in Uganda.

Klippel-Trénaunay syndrome can present with atypical manifestations such as a bleeding vulvar hemangioma. This case report, the first documented in Uganda, highlights the need for awareness of such presentations and underscores the importance of continuous follow-up in female patients to manage potential complications throughout adolescence and pregnancy. Klippel-Trénaunay syndrome (KTS) is a rare congenital disorder marked by bone and soft tissue hypertrophy, port-wine stains, and varicosities. Cases involving genital hemangiomas are rare. This report highlights a 5-year-old girl in Uganda with typical KTS features, including hypertrophy and port-wine stains, along with a bleeding vulvar hemangioma, emphasizing its uncommon presentation and potential complications. Treatment involved compression bandaging and timolol 0.2% solution. This case underscores the importance of awareness of atypical manifestations of hemangiomas with KTS and continuous follow-up for female patients, especially through adolescence and pregnancy, due to potential complications such as prepubertal per vaginal bleeding, menorrhagia, and post-partum bleeding.

The true history of the Hueter-Volkmann law.

The Hueter-Volkmann law (HVL) of the response of growth plate to compression load is a basic concept in orthopaedics. However, little is known about the origin of HVL and its history. A literature search was performed in original publications and historical sources. An analysis of all Volkmann´s and Hueter´s texts has shown that none of their publications was based on experiments, but on the data in the literature and their own clinical observations. They did not deal at all with the effect of pressure on the growth plate and mentioned this structure only marginally. The authors coined the opinion that increased pressure retards and decreased pressure accelerates bone growth. Julius Wolff criticized the HVL and concentrated all his arguments in the book "The law of bone remodeling". According to him, increased pressure leads to bone formation, decreased pressure to its resorption. The Wolff-Volkmann dispute was addressed in the German literature by a number of authors. Walther Müller in his monograph "The normal and pathological physiology of the bone" criticized Wolff for his concept of interstitial bone growth. In Müller´s view, HVL applies to the growing bone and Wolff confuses growth with hypertrophy of the mature bone. The circumstances of the emergence of HVL are inaccurately and incompletely described in the current literature, as they are mostly taken from secondary sources. HVL, as it is presented today, is not the original formulation, but the result of a long historical evolution.

Aesthetic surgical crown lengthening on teeth 11 and 21

Background: In dental treatment planning, aesthetic considerations are crucial due to the relationship between a smile and facial beauty. Crown lengthening is a procedure used to achieve aesthetic smiles, particularly in cases of subgingival caries, fractures, and short clinical crowns. Purpose: The purpose of this case report is to achieve aesthetic improvement of the central incisors through crown lengthening procedures. Case: A 31-year-old female patient presented with a complaint of a broken upper left front tooth and easily bleeding gums. Clinical examination revealed Ellis class 1 fracture at the incisal-distal of tooth 21. The patient exhibited poor oral hygiene with visible calculus on upper and lower jaw teeth. There was gingival hyperplasia, redness, bleeding tendency, and the gingival margin height of teeth 11 and 21 appeared lower than teeth 12 and 22. Radiographically, the alveolar crest was distant from the CEJ. Case Management: Treatment plan included crown lengthening on teeth 11 and 21 with composite restoration on tooth 21. Crown lengthening, a surgical procedure designed to increase the extent of supragingival tooth structure for restorative or aesthetic purposes by repositioning the gingival margin apically was performed. This procedure is indicated for teeth with subgingival caries, extensive caries shortening the tooth, fractures, and short clinical crowns. Conclusion: Crown lengthening should consider the biological width to prevent bone resorption, gingival recession, inflammation, or hypertrophy. When performed under ideal clinical conditions, crown lengthening provides satisfactory outcomes both functionally and aesthetically.

Repeated unilateral injections of botulinum toxin in masticatory muscles in adult rats do not amplify condylar and alveolar bone loss nor modify the volume of the hypertrophic bone proliferation at enthesis

ObjectivesBotulinum toxin is used in human in repeatedly masticatory muscles injections. A single BTX injection in animal induces mandibular bone loss with a muscle enthesis hypertrophic metaplasia. Our aim was to evaluate mandibular bone changes after unilateral repeated injections of BTX in adult rats. Study designMature male rats were randomized into 3 groups: one, two or three injections. Each rat received injections in right masseter and temporalis muscles. The left side was the control side. Microcomputed tomography was used to perform 2D and 3D analyses. ResultsBone loss was evidenced on the right sides of alveolar and condylar bone. Alveolar bone volume increased in both control left side and injected right side whereas condylar bone volume remained constant in all groups, for both sides. Enthesis bone hypertrophic metaplasias were evidenced on the BTX injected sides without any modification with the number of injections. ConclusionBTX repeated injections in masticatory muscles lead to major mandibular condylar and alveolar bone loss that does not worsen. They lead to the occurrence of an enthesis bone proliferation that is not dependent on the number of injections. These results are an argument for the safety of BTX injections in masticatory muscles in human.

An Intact Periosteum is Required for Recombinant Human Jagged1 Guided Bone Regeneration in Calvaria Critical-size Defect Healing.

The need to promote calvaria bone healing as a consequence of injury or craniotomy is a major clinical issue. Previous reports tested recombinant human Jagged1 (rhJagged1) treatment for critical-size calvaria defects in the absence of periosteum, and this resulted in significant new bone formation. As the periosteum contributes to healing by serving as a source of progenitor cells, the present study aimed to examine whether significantly more bone is formed when the periosteum is intact for using rhJagged1 to treat critical-size parietal bone defects in mice. Fifteen healthy adult mice, 34 to 65 weeks of age, 26.9 to 48.2 g, were divided into different groups that compared the critical-size defects treated with either phosphate-buffered saline or rhJagged1 protein in either the presence or absence of periosteum. The results indicated that more bone was formed in the presence of periosteum when rhJagged1 is delivered [35% bone volume per tissue volume (BV/TV); P = 0.02] relative to nonperiosteum. Recombinant human Jagged1 protein delivered in the absence of periosteum had the next most new bone formed (25% BV/TV). Defects with phosphate-buffered saline delivered in the absence or presence of periosteum had the least new bone formed (15% and 18% BV/TV, respectively; P = 0.48). The results also show that rhJagged1 does not form ectopic or hypertrophic bone. The usage of rhJagged1 to treat critical-size defects in calvaria is promising clinically, but to maximize clinical efficacy it will require that the periosteum be intact on the noninjured portions of calvaria.

Klippel-Trénaunay Syndrome and Angiokeratoma: Case Report of a Rare Condition

Introduction: Klippel-Trénaunay syndrome is a rare congenital vascular disorder characterized by a triad of cutaneous capillary malformations, varicosities and hypertrophy of soft tissues and overgrowth bones. Among the cutaneous malformations are angiokeratomas, which appear as a papule from 2 to 10 mm in diameter, usually dark red in color, although they may be blue or black, and their surface is keratotic on palpation. Angiokeratomas pose a therapeutic challenge, especially in cases of multiple or extensive lesions. Laser modalities have demonstrated efficacy and may be successful treatment options. Clinical Case: A 13-year-old male patient with a clinical history of Klippel-Trénaunay syndrome diagnosed at birth. He came to the outpatient services because he presented dermal nodular lesions at the inguinal region, painful on palpation, with a duration of one week. In addition, he had an increase in diameter of the left lower limb with multiple varicose veins, ochre dermatitis on the inner side of his left leg. On the right lower limb there are violaceous patches with the presence of euchromic papules grouped together, of hard consistency at the left knee region. He also presents multiple violaceous keratotic papules on the scrotum, thigh and left knee bleeding on manipulation and trauma. Skin excision was performed in the right inguinal region for biopsy, which reported macroscopically fibrous, multinodular element measuring 0.7x0.5x0.3cm, whitish surface of firm consistency and whitish heterogeneous surface upon sectioning. Microscopic inspection was carried out with hematoxylin and eosin technique, which reported skin with epidermis showing acanthosis, hyperkeratosis, papillary dermis with congestive dilated vessels, negative for malignancy and compatible with angiokeratoma. Among the treatment options, it was decided to initiate CO2 laser therapy with satisfactory results. Conclusions: Klippel-Trénaunay syndrome is an extremely rare vascular pathology ........

Dyke–Davidoff–Masson Syndrome – A Case Series

Abstract Dyke–Davidoff–Masson syndrome (DDMS) refers to variable degrees of atrophy of one cerebral hemisphere, resulting from brain injury in intrauterine or early years of life. Clinical features of this rare syndrome include varying degrees of contralateral hemiplegia, facial asymmetry, seizures, and mental retardation. Specific neuroimaging findings include unilateral brain volume loss, ventriculomegaly, and compensatory bone hypertrophy. In addition to this, calvarial thickening and hyperpneumatization of frontal sinuses may occur. We hereby report three cases of this syndrome, with varied clinical and radiographic features, to highlight the wide spectrum of this syndrome.

Recurrent hematuria involving urinary system with Klippel-Trenaunay syndrome: A case report.

Klippel-Trenaunay syndrome (KTS) is a rare congenital venous malformation, it had been found to be caused by mutations of the phosphatidylinositol 4, 5-diphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. Currently KTS is defined as a triad of skin wine pigmented spots, varicose veins and malformations of the lower extremities, and hypertrophy of bone and soft tissue, involving urinary system up to 6% to 30%. When the urinary system is involved, KTS is often presented as painless massive gross hematuria. This article describes a woman who was hospitalized with painless massive gross hematuria. Physical examination revealed significant hypertrophy of the right lower limb with varicose veins, port-wine stains in the skin, and right perineal hemangiomatous changes with swelling. The patient was admitted to hospital 4 times for repeated hematuria and infection. By physical examination, CT urography, ureteroscopy and cystoscopy, the patient was diagnosed to have Klippel-Trenaunay syndrome, involving the urinary system. The patient hematuria improved after multiple indwelling D-J tubes and anti-inflammatory treatment. The final symptoms of hematuria improved significantly, follow-up so far has not recurred. This case presents the possibility of painless gross hematuria with KTS. Most of patients can be improved by conservative treatment. Cystoscopic laser therapy is the preferred treatment for poor bleeding control. Cystectomy and nephrectomy should be considered when life-threatening.

Endoscopic Transsphenoidal Surgery in Growth-Hormone Pituitary Adenomas (GH PitNETs): Current Indications, Limitations, and the Importance of a Multidisciplinary Approach.

Acromegaly and gigantism are rare diseases, usually caused by a growth hormone-secreting pituitary adenoma, recently renamed GH-secreting pituitary neuroendocrine tumor (GH-PitNET). The transsphenoidal approach is the mainstay of treatment, although a non-negligible number of patients require a multimodal approach with neo-adjuvant or adjuvant medical and radiation therapy. Understanding the clinical complexity of acromegaly and gigantism is essential to improve treatment safety and success. A multidisciplinary skilled team is required to provide adequate pre-operative evaluation and management of the comorbidities associated with GH-PitNETs. Specific intraoperative surgical and anesthesiologic challenges (i.e., mucosal and bone hypertrophy, reduced intracarotid distance, and tumor invasiveness) to ensure maximal and safe resection. The same is for postoperative management to provide precise tumor histological characterization to be used in association with clinical-radiological and biochemical data to tailor patient management in terms of acromegaly control and treatment/prevention of comorbidities. This paper critically revises the indications and limitations of endoscopic transsphenoidal surgery for GH-PitNETs, discusses the frequently complex preoperative evaluation of patients with acromegaly, and analyzes the challenging aspects of the disease, underling the importance of a multidisciplinary framework, which should include a dedicated team of surgeons (neuro- and ENT-), endocrinologists, radiologists, pathologists, and anesthesiologists.

Talocalcaneal coalition: an easily overlooked abnormality - A case report

Abstract Congenital tarsal coalition involves failure of segmentation between two or more tarsal bones. Although coalition can be asymptomatic, foot or ankle pain occasionally occurs, especially in young patients, and is often overlooked at the first presentation. Radiography can be used to diagnose or indirectly identify tarsal coalition, and computed tomography (CT) or magnetic resonance imaging (MRI) can be used to confirm the diagnosis. Here, we present a case of a patient with a delayed diagnosis of tarsal coalition. In our patient, plain radiography of the left ankle showed the typical C-sign. Moreover, a noncontrast MRI of the left ankle revealed focal bone hypertrophy over the medial aspect of the talus and the sustentaculum tali of the calcaneus separated by a low signal gap. Familiarity with the radiographic features and signs of the tarsal coalition might aid in its diagnosis, and CT or MRI might provide additional information for its clinical management.

A rare case of Klippel–Trenaunay syndrome in a neonate

Klippel–Trenaunay syndrome (KTS) is a rare syndrome of congenital capillary-venous vascular malformation associated with altered limb bulk and/or length. It is characterised by capillary nevus, varicosities and hypertrophy of bones and tissues of the affected limb. These three features constitute the primary diagnostic criteria of this syndrome. Although the cause of this disorder is unknown, it has a sporadic occurrence with some reports mentioning autosomal dominant transmission as well. The diagnosis of this embryological malformation is mainly clinical along with supportive evidence from other imaging modalities. In this article, we report a 5-dayold male baby who had phenotypic features suggestive of KTS and was later confirmed by magnetic resonance imaging.

Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review.

Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.

Dyke-Davidoff-Masson syndrome: an unusual cause of epilepsy

Background: Dyke-Davidoff-Masson syndrome (DDMS) is a rare neurological condition with unknown global prevalence and incidence. The characteristic clinical features include facial asymmetry, seizures, and contralateral hemiplegia. Signature neuroimaging findings include unilateral brain volume loss, ventriculomegaly, compensatory bone hypertrophy resulting in cerebral hemiatrophy, calvarial thickening and hyperpneumatization of paranasal and frontal sinuses neuroimaging. Case Presentation: 4-year-old girl patient presented seizures (diagnosed as epilepsy) and complained of left-sided hemiplegia since 1 year ago. Neurological examination revealed left-sided spastic hemiplegia with brisk tendon reflexes and extensor planter response on the left side, increased reflexes physiology in the left limb, and positive Babinski on the left leg. MRI showed right cerebral hemiatrophy with ex vacuo dilatation of the right lateral, III and IV ventricles, with hyper pneumatization of the right ethmoid sinus and right left mastoid Aircell and elevation of the right petrous ridge, and falcine displacement to the right as far as +/- 7mm and blurring right hippocampus, suspected atrophy. Therapy, she got multiple anti-epileptic drugs. Conclusion: Diagnosis of DDMS is made by a triad of hemiplegia, contralateral hemiatrophy, seizures, and classical radiological features. Imaging is important in diagnosing this rare entity and differentiating it from other causes of cerebral hemiatrophy. The long-term prognosis is good, provided the clinical entity is recognized early and managed appropriately.

Sexual function assessment in patients with SAPHO syndrome: a cross-sectional study

IntroductionSAPHO syndrome is a group of special syndromes characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. Skin lesions and joint damage are the main clinical manifestations. Among them, females mostly present with palm toe pustulosis, while males have severe acne as the main external manifestation. The bone and joint damage characterized by bone hypertrophy and osteitis is the core manifestation of SAPHO and affects all parts of the body. SAPHO syndrome causes great physical and mental suffering to patients, and it also brings a huge financial burden to the family. The purpose of this study is to explore the impact of SAPHO on the quality of sexual life of patients.MethodsWe screened and included 249 SAPHO patients (169 women and 80 men) from Peking Union Medical College Hospital (Beijing, China). First, we recorded the basic situation of the patient through questionnaires (including gender, age, SAPHO duration, BMI, smoking, drinking, marital status, educational level, occupational status and work status.). Then, the patient needed to fill in the Short Form-36 quality of life questionnaire (SF-36 QoL) to record the quality of life. For Sexual dysfunction (SD), female patients needed to fill in the Female Sexual Function Index (FSFI) to assess the quality of sexual life; while the International Index of Erectile Function (IIEF) was used to assess the SD of male patients. At the same time, we used self-esteem and relationship questionnaire (SEAR) to analyze the psychological state of SAPHO patients. Finally, we performed statistical analysis on the data obtained, and then explored the connection between SAPHO and SD.ResultsIn this cross-sectional study, a total of 249 patients completed the questionnaire and constituted the study population. We found that among 169 female patients, 124 patients had FSD (73.4%); while 45 patients did not have FSD (26.6%); and among 80 male patients, 45 (56.3%) had ED; However, 35 patients did not have ED (43.7%). The results of the quality of life and mental state assessment showed that female patients with SD showed lower scores in terms of mental state. Among all male participants, we found no significant difference in quality of life and mental state among participants with or without SD. In addition, there was no significant difference in the duration of SAPHO between female and male participants with or without SD.ConclusionThis study is the first to evaluate the SD of SAPHO patients. The incidence of SD in female SAPHO patients is higher than that in male patients; the cause of female SD may be mainly psychological factors. These results prove that it is particularly important to focus on regulating their psychological state while diagnosing and treating SAPHO patients in clinical practice.

Surgery for Port-Wine Stains: A Systematic Review.

Port-wine stains (PWS) are congenital low-flow vascular malformations of the skin. PWS tend to become thicker and darker with time. Laser therapy is the gold standard and the first-line therapy for treating PWS. However, some resistant PWS, or PWS that have tissue hypertrophy, do not respond to this therapy. Our aim is to evaluate the role of surgery in the treatment of PWS birthmarks. A literature search was performed in PubMed, Scopus, Web of Science (WOS) and Google Scholar for all papers dealing with surgery for port-wine stains, from January 2010 to December 2020 using the search strings: (capillary vascular malformation OR port-wine stains OR Sturge Weber Syndrome OR sws OR pws) AND (surgical OR surgery). Ten articles were identified and used for analysis. They were almost all case series with a short follow up period and lacked an objective-systematic score of evaluation. Delay in treatment of port wine stains may result in soft tissue and bone hypertrophy or nodules with disfiguring or destructive characteristics. The correction of PWS-related facial asymmetry often requires bone surgery followed by soft tissue corrections to achieve a more harmonious, predictable result.

Redefining the Treatment of Lumbosacral Transitional Vertebrae for Bertolotti Syndrome: Long-Term Outcomes Utilizing the Jenkins Classification to Determine Treatment

Using the Jenkins classification, we propose a strategy of shaving down hypertrophic bone, unilateral fusion, or bilateral fusion procedures to achieve pain reduction and improve quality of life for patients with Bertolotti syndrome. We reviewed 103 patients from 2012 through 2021 who had surgically treated Bertolotti syndrome. We identified 56 patients with Bertolotti syndrome and at least 6 months of follow-up. Patients with iliac contact preoperatively were presumed to be more likely to have hip pain that could respond to surgical treatment, and those patients were tracked for those outcomes as well. Type 1 patients (n= 13) underwent resection. Eleven (85%) had improvement, 7 (54%) had good outcome, 1 (7%) had subsequent surgery, 1 (7%) was suggested additional surgery, and 2 (14%) were lost to follow-up. In Type 2 patients (n= 36), 18 underwent decompressions and 18 underwent fusions as a first line. Of the 18 patients treated with resection an interim analysis saw 10 (55%) with failure and needing subsequent procedures. With subsequent procedure, 14 (78%) saw improvement. For fusion surgical patients, 16 (88%) saw some improvement and 13 (72%) had a good outcome. In Type 4 patients (n= 7), 6 (86%) did well with unilateral fusion, with durable benefit at 2 years. In patients who had hip pain preoperatively (n= 27), 21 (78%) had improvement of hip pain postoperatively. The Jenkins classification system provides a strategy for patients with Bertolotti syndrome who fail conservative therapy. Patients with Type 1 anatomy respond well to resection procedures. Patients with Type 2 and Type 4 anatomy respond well to fusion procedures. These patients respond well in regard to hip pain.

Recurrent PIK3CA H1047R-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature

Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face. This commonly results in early eruption of the teeth, hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Less than 80 cases of CILF have been reported in the literature so far. Treatment modalities include liposuction and surgical excision. However, since the hallmark of CILF is mutation in the PIK3CA gene, PI3K inhibitors may play a therapeutic role in CILF. We report a case of an 8-year-old boy with recurrent CILF of the scalp and nose, with PIK3CA H1047R mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity.

Efficacy of homoeopathic medicine Formica Rufa 30ch in the management of osteoarthritis of knee joint using womac index score method

Osteoarthritis is a chronic degenerative disorder of multifactorial etiology characterized by the loss of articular cartilage, hypertrophy of bone at the margins, subchondral sclerosis and range of biochemical and morphological alterations of the synovial membrane and joint capsule.Homoeopathic philosophy does not favour the use of temporary pain killers or short cuts in treating diseases. Homoeopathy treats the patients as a whole by considering the symptoms. There are several Medicines found to be effective in the management of Osteoarthritis. This is an attempt to evaluate the efficacy of Homoeopathic Medicine Formica Rufa 30CH in the treatment of Osteoarthritis of Knee Joint. Hence I selected this homoeopathic medicine Formica Rufa.