Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome.

PURPOSE: Despite recent developments in vitrectomy technology and instrumentation, rhegmatogenous retinal detachment in Stickler syndrome (RDS) remains a challenge for surgeons. RDSs are associated with a higher rate of complications and surgical failures than those not associated with Stickler syndrome. This study is a report about anatomic and visual outcomes of RDS surgery and describes the surgical techniques associated with the treatment of this specific condition. METHODS: This is a retrospective, interventional, consecutive case series of patients with RDS undergoing retinal reattachment surgery from 1990 to 2020 at the Institute of Ocular Microsurgery (IMO) in Barcelona, Spain. RESULTS: Twenty-four eyes of 18 patients with genetically confirmed Stickler syndrome were included in the study. Ten eyes (41.6%) presented a giant retinal tear. Retinal reattachment was achieved in all cases after an average of 1.21 (range 1-6) surgical interventions. Nineteen eyes (79%) required only one operation to achieve complete retinal reattachment. The most common first surgical procedure was a 4-mm scleral buckle with posterior pars plana vitrectomy and silicone oil endotamponade, performed on 16 (66.6%) of the eyes. The mean follow-up period was 10.2 years. Mean preoperative visual acuity LogMar was 1.10 (Snellen equivalent 20/252), which improved to 0.50 (Snellen equivalent 20/63) at final follow-up (p < 0.05). CONCLUSION: In most RDS cases, anatomic success and visual acuity improvement can be achieved with the first surgical procedure, using a combination of silicone oil tamponade and a 4-mm scleral encircling band. In some early cases of RDS, other less invasive surgical techniques can be used.

Managing connective tissue disease: how to select and facilitate successful transplantation.

PURPOSE OF REVIEW: Lung transplant (LTx) evaluation and selection of candidates with connective tissue disease (CTD) remains controversial and varies between centers, and the optimal candidate selection is still controversial. RECENT FINDINGS: Recent United States and European publications have reported reasonable short-term and long-term LTx outcomes in patients with CTD to other lung fibrosis patients without CTD. This article discusses the recently published International Society for Heart and Lung Transplantation (ISHLT) consensus document recommendations to evaluate and select CTD candidates, the importance of early referral, posttransplant management, and the involvement of a multidisciplinary team. SUMMARY: Future standardized practices among centers adapting the 2021 ISHLT consensus recommendations to evaluate and select CTD candidates will allow risk stratification, determine the best candidates, and facilitate the most successful long-term LTx outcomes.

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.

BACKGROUND: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment repair. Despite the occurrence of cleft palate and Pierre-Robin sequence, there is little published literature on airway complications. Our aim was to describe anesthetic practice and complications in a nonselected series of Stickler syndrome cases. To our knowledge, this is the largest such series in the published literature. METHODS: We retrospectively identified patients with genetically confirmed Stickler syndrome who had undergone general anesthesia in a major teaching hospital, seeking to identify factors that predicted patients who would require more than 1 attempt to correctly site an endotracheal tube (ETT) or supraglottic airway device (SAD). Patient demographics, associated factors, and anesthetic complications were collected. Descriptive statistical analysis and logistic regression modeling were performed. RESULTS: Five hundred and twoanesthetic events were analyzed. Three hundred ninety-five (92.7%) type 1 Stickler and 63 (96.9%) type 2 Stickler patients could be managed with a single attempt of passing an ETT or SAD. Advanced airway techniques were required on 4 occasions, and we report no major complications. On logistic regression, modeling receding mandible (P = .0004) and history of cleft palate (P = .0004) were significantly associated with the need for more than 1 attempt at airway manipulation. CONCLUSIONS: The majority of Stickler patients can be anesthetized safely with standard management. If patients have a receding mandible or history of cleft, an experienced anesthetist familiar with Stickler syndrome should manage the patient. We recommend that patients identified to have a difficult airway wear an alert bracelet.

Heart-lung transplantation: A viable option for connective tissue diseases.

BACKGROUND: While lung transplantation (LTx) has been effective for connective tissue disease (CTD) patients with pulmonary involvement, outcomes for heart-lung transplantation (HLTx) are less defined. The aim of this study is to evaluate HLTx in CTD patients utilizing the UNOS database. METHODS: HLTx patients with CTD (HLTx-CTD) were compared to both LTx patients with CTD (LTx-CTD) and HLTx patients with all other indications (HLTx-OI) from 1999 to 2018. Primary outcome was 1- and 5-year graft survival. Secondary outcomes included freedom from first-year rejection and outcomes prior to transplant discharge. RESULTS: 1143/29 323 adults received first-time HLTx or LTx for CTD. Seventeen were HLTx-CTD (3.3% of total HLTx) and 1126 were LTx-CTD (3.9% of total LTx). There were 492 HLTx-OI. Transplant hemodynamic values including cardiac output, pulmonary capillary wedge pressure, and calculated pulmonary vascular resistance were significantly worse for HLTx-CTD vs LTx-CTD (4.2 vs 5.4 L/min, P = .005; 14 vs 10 mm Hg, P = .009; 439 vs 267 dynes, P = .007, respectively). Cardiac status 1 was more common for HLTx-CTD vs HLTx-OI (94% vs 56%, P < .001). HLTx-CTD 1 and 5-year graft survival was similar compared to LTx-CTD and HLTx-OI. CONCLUSION: HLTx-CTD is a valid option for carefully selected patients with CTD cardiac and pulmonary involvement with similar morbidity and mortality compared to LTx-CTD and HLTx-OI.

Double-lung versus heart-lung transplantation for precapillary pulmonary arterial hypertension: a 24-year single-center retrospective study.

Transplant type for end-stage pulmonary vascular disease remains debatable. We compared recipient outcome after heart-lung (HLT) versus double-lung (DLT) transplantation. Single-center analysis (38 HLT-30 DLT; 1991-2014) for different causes of precapillary pulmonary hypertension (PH): idiopathic (22); heritable (two); drug-induced (nine); hepato-portal (one); connective tissue disease (four); congenital heart disease (CHD) (24); chronic thromboembolic PH (six). HLT decreased from 91.7% [1991-1995] to 21.4% [2010-2014]. Re-intervention for bleeding was higher after HLT; (P = 0.06) while primary graft dysfunction grades 2 and 3 occurred more after DLT; (P < 0.0001). Graft survival at 90 days, 1, 5, 10, and 15 years was 93%, 83%, 70%, 47%, and 35% for DLT vs. 82%, 74%, 61%, 48%, and 30% for HLT, respectively (log-rank P = 0.89). Graft survival improved over time: 100%, 93%, 87%, 72%, and 72% in [2010-2014] vs. 75%, 58%, 42%, 33%, and 33% in [1991-1995], respectively; P = 0.03. No difference in chronic lung allograft dysfunction (CLAD)-free survival was observed: 80% & 28% for DLT vs. 75% & 28% for HLT after 5 and 10 years, respectively; P = 0.49. Primary graft dysfunction in PH patients was lower after HLT compared to DLT. Nonetheless, overall graft and CLAD-free survival were comparable and improved over time with growing experience. DLT remains our preferred procedure for all forms of precapillary PH, except in patients with complex CHD.

Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization.

A great deal of literature has drawn attention to the "complex Chiari," wherein the presence of instability or ventral brainstem compression prompts consideration for addressing both concerns at the time of surgery. This report addresses the clinical and radiological features and surgical outcomes in a consecutive series of subjects with hereditary connective tissue disorders (HCTD) and Chiari malformation. In 2011 and 2012, 22 consecutive patients with cervical medullary syndrome and geneticist-confirmed hereditary connective tissue disorder (HCTD), with Chiari malformation (type 1 or 0) and kyphotic clivo-axial angle (CXA) enrolled in the IRB-approved study (IRB# 10-036-06: GBMC). Two subjects were excluded on the basis of previous cranio-spinal fusion or unrelated medical issues. Symptoms, patient satisfaction, and work status were assessed by a third-party questionnaire, pain by visual analog scale (0-10/10), neurologic exams by neurosurgeon, function by Karnofsky performance scale (KPS). Pre- and post-operative radiological measurements of clivo-axial angle (CXA), the Grabb-Mapstone-Oakes measurement, and Harris measurements were made independently by neuroradiologist, with pre- and post-operative imaging (MRI and CT), 10/20 with weight-bearing, flexion, and extension MRI. All subjects underwent open reduction, stabilization occiput to C2, and fusion with rib autograft. There was 100% follow-up (20/20) at 2 and 5 years. Patients were satisfied with the surgery and would do it again given the same circumstances (100%). Statistically significant improvement was seen with headache (8.2/10 pre-op to 4.5/10 post-op, p < 0.001, vertigo (92%), imbalance (82%), dysarthria (80%), dizziness (70%), memory problems (69%), walking problems (69%), function (KPS) (p < 0.001). Neurological deficits improved in all subjects. The CXA average improved from 127° to 148° (p < 0.001). The Grabb-Oakes and Harris measurements returned to normal. Fusion occurred in 100%. There were no significant differences between the 2- and 5-year period. Two patients returned to surgery for a superficial wound infections, and two required transfusion. All patients who had rib harvests had pain related that procedure (3/10), which abated by 5 years. The results support the literature, that open reduction of the kyphotic CXA to lessen ventral brainstem deformity, and fusion/stabilization to restore stability in patients with HCTD is feasible, associated with a low surgical morbidity, and results in enduring improvement in pain and function. Rib harvest resulted in pain for several years in almost all subjects.

Isolated peroneal tenosynovial lipoma arborescens: multimodality imaging features.

Synovial lipoma arborescens is a rare and benign fatty proliferative lesion of the synovium that is most commonly seen within the suprapatellar pouch of the knee, but increasingly reported to involve tendon sheaths, including those of the ankle. We present the third known case of tenosynovial lipoma arborescens isolated to the peroneal tendon sheath without ankle joint involvement. To our knowledge, this is the first to report this entity utilizing a unique combination of radiographic, sonographic, and MR imaging, along with intraoperative and histologic correlation. Knowledge of this case is important when interpreting radiographic or sonographic images of this condition to raise the possibility of the rare entity of lipoma arborescens involving the peroneal tendon sheath.

Desmosis coli - a case report and review of the literature.

Desmosis coli is a rare pathology presenting as slow transit constipation. In this case we would like to discuss the presentation and management of desmosis coli. A 14-month-old female hailing from western India with a history of chronic constipation presented with acute massive abdominal distension and vomiting. At laparotomy, a hugely dilated transverse and sigmoid colon with a transition zone at the lower sigmoid was found. A transverse stoma was done after taking multiple sero-muscular biopsies. The patient underwent re-exploration on day 14 because of the non-functioning of the stoma and a fixed bowel loop. The histopathology report was suggestive of normal ganglion cells. Unfortunately, the stoma continued not to function. A dye study showed dye in the colon after 24 hours ruling out any anatomical obstruction. Histopathology slides were reviewed multiple times and reported lack of connective tissue of the colonic wall leading to the diagnosis of desmosis coli. The patient was started on gradual feeds and pro-kinetics and over the next 2 weeks the stoma started functioning slowly. Desmosis coli is a rare cause of constipation which should be suspected in cases where aganglionosis has been ruled out and the constipation is refractory to conventional therapy.

Perioperative management of 19 infants undergoing glossopexy (tongue-lip adhesion) procedure: a retrospective study.

BACKGROUND: Glossopexy (tongue-lip adhesion) is a procedure in which the tongue is anchored to the lower lip and mandible to relieve the upper airway obstruction mainly in infants with Pierre Robin sequence. Infants suffering from severe upper airway obstruction and feeding difficulties due to glossoptosis are the candidates for this procedure and are predicted to demonstrate difficult airway and difficult intubation. METHODS: We retrospectively examined the perioperative management of 19 infants undergoing glossopexy procedure at our institution from 1992 to 2010. RESULTS: Out of 19 patients, Pierre Robin sequence was diagnosed in 17, Treacher Collins syndrome in 1, and Stickler syndrome in 1. In all of them, inhalation anesthesia was induced with a nasopharyngeal tube in place. Nine patients underwent fiberoptic intubation. After surgery, 12 patients were extubated in the operating room and 11 of them required a nasopharyngeal tube to keep the airway open. Seven patients left the operating room with the trachea intubated. Two patients received tracheostomy at the age of 2 months. Seventeen patients underwent release of tongue-lip adhesion coincidentally with the palate repair at 7-14 months of age. For this surgery, no one required fiberoptic intubation. CONCLUSIONS: The airway of these patients should be managed carefully not only before but also after the operation. A nasopharyngeal tube was effective in maintaining the upper airway patency during anesthesia induction and before and after operation.

[Oral rehabilitation with metalloceramic restorations in patients with non-differentiated systemic connective tissue dysplasia].

False formation of connective tissues have a great influence on structure and function of organs and tissues of the human body. In prosthodontics, the changes in connective tissues greatly occur during clinical stages of preparing metal ceramic dentures. The algorithm of treatment patients with connective tissue dysplasia during metal ceramic dentures was developed and introduced into practical dentistry based on studying the morphology and functionality of dentition and clinical experience.

5-Year data analysis of patients following abdominal wall endometrioma surgery.

BACKGROUND: Endometriosis is a disorder in which an ectopic endometrial tissue grows outside the uterine cavity. The ectopic endometrium embedded in the subcutaneous fatty layer and the muscles of abdominal wall is called as abdominal wall endometriosis (AWE). AWE is a rare condition; however, it is usually known to develop along with previous surgical scars. Caesarean section and hysterectomy are considered to be commonly associated with the development of AWE. METHODS: We evaluated the data of the patients who underwent AWE surgery between March 2009 and March 2014. RESULTS: The mean age of the patients was 32.5 years. We found a previous history of caesarean section in all of the patients. The most frequent symptoms of the patients were abdominal mass sensation and abdominal pain. Invasion of endometriosis to fat layer, fascia, muscular layer, and peritoneum was recorded. Three masses were located within the scar regions. CONCLUSIONS: We can conclude that there is a high prevalence of caesarean sections among the women with AWE.

Laser therapy in the treatment of connective tissue diseases: a review.

BACKGROUND: Connective tissue diseases (CTD), including lupus erythematosus (LE), scleroderma, sarcoidosis, and dermatomyositis, present with clinically unique cutaneous manifestations often resistant to conventional therapy. The use of lasers in the treatment of various dermatologic conditions continues to expand, presenting an opportunity for incorporation of another mechanism of action in the treatment of CTD. OBJECTIVES: To review the use of laser therapy in the treatment of LE, scleroderma, sarcoidosis, and dermatomyositis. MATERIALS AND METHODS: A MEDLINE search was conducted to find articles detailing treatment of CTD with laser therapy. RESULTS: Thirty-nine published articles were identified. The outcomes and results of case reports were reviewed for each CTD when possible. CONCLUSIONS: Laser therapy offers novel and often effective treatment for recalcitrant cutaneous conditions in LE, scleroderma, sarcoidosis, and dermatomyositis. Review of the literature revealed a limited number of reports, many describing outdated technologies and techniques. It is therefore difficult to draw substantial conclusions regarding safety and the known association with photosensitivity. More-recent reports suggest that, with continued evolution of technology and understanding of CTD, lasers will have an expanding role in the treatment of cutaneous manifestations of CTD.

Outcomes of complex abdominal wall reconstruction in patients with connective tissue disorders: a single center experience.

INTRODUCTION: Individuals diagnosed with connective tissue disorders (CTD) are known to be predisposed to incisional hernia formation. However, there is a scarcity of data on outcomes for these patients undergoing hernia repair. We sought to describe our outcomes in performing abdominal wall reconstructions in these complex patients. METHODS: Adult patients with CTD undergoing open, elective, posterior component separation with permanent synthetic mesh at our institution from January 2018 to October 2022 were queried from a prospectively collected database in the Abdominal Core Health Quality Collaborative. We evaluated 30-day wound morbidity, perioperative complications, long-term hernia recurrence, and patient-reported quality of life. RESULTS: Twelve patients were identified. Connective tissue disorders included Marfan's n = 7 (58.3%), Loeys-Dietz syndrome n = 2 (16.7%), Systemic Lupus Erythematosus n = 2 (16.7%), and Scleroderma n = 1 (8.3%). Prior incisions included three midline laparotomies and nine thoracoabdominal, mean hernia width measured 14 cm, and 9 were recurrent hernias. Surgical site occurrences (SSOs) were observed in 25% of cases, and 16.7% necessitated procedural intervention. All twelve patients were available for long-term follow-up, with a mean of 34 (12-62) months. There were no instances of reoperation or mesh excision related to the TAR procedure. One patient developed a recurrence after having his mesh violated for repair of a new visceral aneurysm. Mean HerQLes scores at 1 year were 70 and 89 at ≥ 2 years; Mean scaled PROMIS scores were 30.7 at 1 year and 36.3 at ≥ 2 years. CONCLUSION: Ventral hernia repair with TAR is feasible in patients with connective tissue disorder and can be a suitable alternative in patients with large complex hernias.

Collagenoma in a child with tuberous sclerosis complex causing carpal tunnel syndrome and thumb overgrowth: case report.

We report on a child with tuberous sclerosis complex who had progressive enlargement of a collagenoma of the right hand. The tumor resulted in median nerve compressive neuropathy and overgrowth of the thumb. Debulking of the tumor along with median nerve decompression was performed with relief of neurological symptoms. No recurrence of the symptoms was observed during the 1-year follow-up after surgery. To the best of our knowledge, this is the first report of a deep collagenoma in any anatomical location.

Lung Transplantation: A Viable Option for Connective Tissue Disease?

Interstitial lung disease (ILD) and pulmonary hypertension (PH) caused by connective tissue disease (CTD) are one of the main causes of morbidity and death in patients. Although the International Society for Heart & Lung Transplant suggested that ILD and PH related to CTD are rare indications for lung transplantation in 2006, many lung transplantation centers are concerned that the multisystem involvement of CTD will affect survival outcomes after lung transplantation, and CTD is regarded as a relative contraindication for lung transplantation. However, long-term and short-term survival after lung transplantation in CTD patients is similar compared with survival in common indications for lung transplantation such as idiopathic pulmonary fibrosis (IPF), and no higher incidence of complications after transplantation in many lung transplant centers. This suggests that lung transplantation may be beneficial in CTD patients with disease that progresses to end-stage lung disease, and CTD should not be considered a contraindication for lung transplantation. In the future, more prospective studies are needed to analyze the risk factors of lung transplantation in CTD patients to improve survival rates and reduce the risk of complications. This narrative review summarizes the selection and evaluation of candidates for CTD before lung transplantation and describes the clinical outcomes in CTD after lung transplantation in large-capacity lung transplantation center. The purpose of this review is to help rheumatologists decide when to refer patients with CTD-related lung involvement to a lung transplantation center and the conditions to consider before transplantation and to provide confidence to lung transplant experts.

Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.

Importance: Endovascular treatment is not recommended for aortic pathologies in patients with connective tissue diseases (CTDs) other than in redo operations and as bridging procedures in emergencies. However, recent developments in endovascular technology may challenge this dogma. Objective: To assess the midterm outcomes of endovascular aortic repair in patients with CTD. Design, Setting, and Participants: For this descriptive retrospective study, data on demographics, interventions, and short-term and midterm outcomes were collected from 18 aortic centers in Europe, Asia, North America, and New Zealand. Patients with CTD who had undergone endovascular aortic repair from 2005 to 2020 were included. Data were analyzed from December 2021 to November 2022. Exposure: All principal endovascular aortic repairs, including redo surgery and complex repairs of the aortic arch and visceral aorta. Main Outcomes and Measures: Short-term and midterm survival, rates of secondary procedures, and conversion to open repair. Results: In total, 171 patients were included: 142 with Marfan syndrome, 17 with Loeys-Dietz syndrome, and 12 with vascular Ehlers-Danlos syndrome (vEDS). Median (IQR) age was 49.9 years (37.9-59.0), and 107 patients (62.6%) were male. One hundred fifty-two (88.9%) were treated for aortic dissections and 19 (11.1%) for degenerative aneurysms. One hundred thirty-six patients (79.5%) had undergone open aortic surgery before the index endovascular repair. In 74 patients (43.3%), arch and/or visceral branches were included in the repair. Primary technical success was achieved in 168 patients (98.2%), and 30-day mortality was 2.9% (5 patients). Survival at 1 and 5 years was 96.2% and 80.6% for Marfan syndrome, 93.8% and 85.2% for Loeys-Dietz syndrome, and 75.0% and 43.8% for vEDS, respectively. After a median (IQR) follow-up of 4.7 years (1.9-9.2), 91 patients (53.2%) had undergone secondary procedures, of which 14 (8.2%) were open conversions. Conclusions and Relevance: This study found that endovascular aortic interventions, including redo procedures and complex repairs of the aortic arch and visceral aorta, in patients with CTD had a high rate of early technical success, low perioperative mortality, and a midterm survival rate comparable with reports of open aortic surgery in patients with CTD. The rate of secondary procedures was high, but few patients required conversion to open repair. Improvements in devices and techniques, as well as ongoing follow-up, may result in endovascular treatment for patients with CTD being included in guideline recommendations.

Aortic valve reimplantation in patients with connective tissue disorders: Are the leaflets durable?

OBJECTIVE: The durability of reimplanted myxomatous aortic valves in root replacements for patients with connective tissue disorders (CTD) is unclear; therefore, we sought to evaluate the long-term resilience of these repairs. METHODS: From January 1980 to January 2020, 214 patients with CTD and 645 without CTD underwent primary, elective aortic valve reimplantation operations at Cleveland Clinic. The CTD cohort included 164 (77%) with Marfan, 23 (11%) with Loeys-Dietz, and 7 (3.3%) with Ehlers-Danlos CTD. We accounted for differing patient characteristics between the groups by propensity score matching to compare outcomes, yielding 96 matched pairs. Longitudinal echocardiographic measures were compared using nonlinear mixed effects models. RESULTS: In the CTD cohort, there were no operative mortalities (30-day or in-hospital), 1 (0.47%) stroke, and 1 (0.47%) early in-hospital reoperation for valve dysfunction. Ten-year prevalence of no aortic regurgitation was 86%, mild 11%, and moderate 3%. Ten-year freedom from reoperation was 97%. In propensity matched cohorts, there were no significant differences in in-hospital outcomes, longitudinal aortic regurgitation and mean gradient, risk of reoperation on the aortic valve, or risk of late death. CONCLUSIONS: Aortic valve reimplantation is a durable operation in patients with CTD and root aneurysms. These patients do not experience early degeneration of their reimplanted aortic valves.

Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders.

BACKGROUND: Arterial tortuosity is described as a common and distinctive feature of Loeys-Dietz syndrome (LDS), yet reports on arterial tortuosity are based on qualitative observations and none have investigated an association between tortuosity and cardiovascular outcomes in LDS or other connective tissue disorders. METHODS AND RESULTS: We performed a retrospective analysis of 90 patients ≤50 years of age with Marfan syndrome, LDS, Ehlers-Danlos syndrome, or nonspecific connective tissue disorder who underwent thoracic contrast-enhanced magnetic resonance angiography. Controls (n=30) underwent magnetic resonance imaging to exclude arrhythmogenic right ventricular dysplasia. Using a volume-rendered angiogram, vertebral arteries were measured along the curvature of the vessel (actual length) and linearly (straight length), and distance factor was calculated: [(actual/straight length-1)×100]. Each subject's maximum distance factor was designated the Vertebral Tortuosity Index (VTI). The VTI was compared among diagnostic groups and among patients with cardiac surgery, dissection, and death. Median age at magnetic resonance imaging was 19.6 years (range 0.2 to 50.1). VTI interrater reliability was excellent (intraclass correlation coefficient =0.987). The VTI was higher in Marfan syndrome (n=57, median 26; interquartile range 10 to 49) and LDS (n=13, median 58; interquartile range 18 to 92) compared with controls (median 4.5; interquartile range 3 to 6; P<0.001 for both). Higher VTI was associated with younger age at surgery even when controlling for root size (adjusted P=0.002). Vertebral tortuosity index ≥50 was associated with earlier age at dissection and death compared with VTI <50 (P=0.001 versus P<0.001). We found no difference in age at surgery, dissection, or death in Marfan syndrome compared with LDS. CONCLUSION: Arterial tortuosity measured by magnetic resonance angiography is a reproducible marker of adverse cardiovascular outcomes in connective tissue disorders.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

Long-term Outcome After Surgical Treatment of Lipedema.

Lipedema is a condition characterized by abnormal deposition of adipose tissue in the lower extremities leading to circumferential bilateral lower extremity enlargement typically seen extending from the hips to the ankles. Diagnosis of the condition is often challenging, and patients frequently undergo a variety of unsuccessful therapies before receiving the proper diagnosis and appropriate management. Patients may experience pain and aching in the lower extremity in addition to distress from the cosmetic appearance of their legs and the resistance of the fatty changes to diet and exercise. We report a case of a patient with lipedema who was treated with suction-assisted lipectomy and use of compression garments, with successful treatment of the lipodystrophy and maintenance of improved aesthetic results at 4-year postoperative follow-up.