Proximal Phalangeal Joint Research Articles

Volar Plate Draping (VPD) for Severely Comminuted Proximal Phalanx Head Fractures

AbstractWhile proximal phalangeal joint injuries with comminution of the base of the middle phalanx are common injuries, proximal interphalangeal (PIP) joint fracture dislocations with an intact base of middle phalanx and a comminuted head of proximal phalanx are rare. Volar plate arthroplasty and other described techniques prevail for the former injury, while the latter does not have any supportive literature on the exact method of management. We herein present a 20-year-old male with a severely comminuted head of proximal phalanx fracture with dislocation of the PIP joint, which was not reconstructable but was managed successfully with a novel technique of volar plate draping that resurfaced the raw phalangeal head. A 3-year follow-up of the patient, whose finger has full, painless, and complete functional range of movement, gives us the belief that this procedure can provide a fully functional finger where other methods fail to do so.

123 Flexion Glove Modification to Isolate Proximal and Distal Interphalangeal Joint Range of Motion

Abstract Introduction Flexion gloves are a quick and easy way to provide a dynamic stretch to the digits for patients with limited composite flexion range of motion (ROM) or who are at risk for digit extension burn scar contractures. However, the flexion glove has been observed clinically to bias metacarpal phalangeal (MCP) joint flexion ROM when compared to the proximal and distal phalangeal (PIP and DIP) joints. The purpose of this case study is to demonstrate the use of a custom thermoplastic hand-based splint to block MCP joint motion in order to better isolate PIP and DIP joint ROM for a patient with primary PIP and DIP flexion ROM limitations. Methods A custom, thermoplastic, palmer hand-based splint was fabricated with an opening for the thumb and the splint extending to the proximal phalanxes stopping below the PIP joints in order to block MCP joint flexion ROM as seen in Figure 1b. Composite flexion passive ROM (PROM) measurements were taken for all MCP, PIP, and DIP joints of digits 2-4 with only the flexion glove donned and with the hand-based splint applied over the flexion glove as seen in Figure 1a and 1c. Results An increase in combined PIP and DIP joint PROM was found for all digits when the hand-based splint was donned over the flexion glove compared to the flexion glove only (see Table 1). These increases in combined PIP and DIP PROM included 35° for the index finger, 10° for the middle finger, 20° for the ring finger and 30° for the small finger, with an overall mean increase of 23.75° Conclusions This easy splinting technique combined with a flexion glove was effectively used to bias stretch of the PIP and DIP joints into flexion for a patient with adequate MCP flexion ROM and impaired PIP and DIP flexion ROM caused by burn scar contracture. Applicability of Research to Practice Using an off the shelf flexion glove and a basic hand-based splint, therapists can use this technique to easily adjust the angle of pull to maximize the benefit from a flexion glove to address specific joint limitations of the finger caused by burn scar contracture.

Morphologic Changes in Postaxial Polydactyly of the Foot: A Standardized Quantitative Analysis Using the Watanabe-Fujita Classification.

Postaxial polydactyly of the foot is one of the most common congenital abnormalities. A wide forefoot, short toe, and lateral joint deviation are associated with aesthetic and functional outcomes. This study used the Watanabe-Fujita classification to characterize the preoperative and postoperative skeletal morphology of postaxial polydactyly of the foot. This retrospective study included 42 patients (51 feet) with postaxial polydactyly treated at age 1 year. Radiographs taken at ages 0 and 3 to 4 years were used for morphologic analysis. The length of the reconstructed toe, the distance between the fourth and fifth metatarsals, and joint deviation angles were measured. The length measures were standardized using the length of the third metatarsal. Morphologic characteristics were compared based on the Watanabe-Fujita classification at ages 0 and 3 to 4 years. Long-term outcomes were also evaluated in patients followed up for longer than 6 years. The fifth-ray proximal phalangeal subtype had the shortest toe length both at ages 0 and 3 to 4 years. Proximal phalangeal joint lateral deviation improved postoperatively in 78% of patients with the fifth-ray middle phalangeal subtype, regardless of reconstruction type. There was no significant change in proximal phalangeal joint deviation between ages 3 to 4 years and 7 years or older. A residual metatarsal was associated with lateral metatarsophalangeal joint deviation and a wide intermetatarsal distance, and required revision surgery. Morphologic changes of postaxial polydactyly of the foot were successfully characterized using the Watanabe-Fujita classification. This classification could be useful for planning surgical strategies and anticipating morphologic outcomes. Therapeutic, IV.

Combined great toe dorsal nail-skin flap and medial plantar flap for one-stage reconstruction of degloved finger

BackgroundHistorically, the degloved finger with the total loss of nail and skin had been resurfaced with an expanded great toe wrap-around flap transfer for better outcomes. The purpose of this study aims to present our experience with a related modified design, with total preservation of a weight-bearing plantar skin. MethodFrom April 2016 to September 2019, nine fingers (5 index and 4 middle fingers) in nine cases, with skin loss to the base of the proximal phalangeal or metacarpophalangeal (MCP) joint level, were reconstructed with combined great toe dorsal nail-skin flap and medial plantar artery perforator (MPAP) flap. The dorsal great toe donor was covered with a thin groin flap, and the medial plantar site was covered with a full-thickness skin graft. The cutaneous nerves were preserved within both flaps. Standardized assessment of outcome in terms of sensory, functional, and esthetic performance of the reconstructed fingers was completed. ResultsFlap survival was achieved in all cases. The contour of the reconstructed digits was comparable with the contralateral one. The fingers were available for a mean follow-up of 28 months (ranged, 22-39 months). The mean dimension of the great toe dorsal nail-skin flap was 8.5 × 4.0 cm (ranged, 6.5 × 3.5-11.0 × 4.5 cm). The average size of the MPAP flap was 6.5 × 4.5 cm (ranged, 5.0 × 3.5-8.0 × 5.5 cm). At the last follow-up, the functional and aesthetic consequences were satisfactory, as well as the restored sensory. ConclusionReconstruction of degloved fingers with the great toe dorsal nail-skin flap combined MPAP flap, preserving a plantar weight-bearing area, results in excellent contour and functional outcome. Donor-site morbidity in the foot was minimal.

A Silent Closed Rupture of the Flexor Digitorum Profundus on the Index Finger: An Unsolved Mystery

We report the case of a patient who fully recovered from a closed flexor tendon rupture through a two-stage flexor tendon reconstruction using silicone rods, despite a considerable delay in treatment. A 17-year-old male patient visited our clinic with a sudden inability to flex his left index finger, although there were no signs of injury. Magnetic resonance imaging revealed an extensive rupture of the flexor digitorum profundus from the base of the distal phalanx to the proximal phalangeal joint of his left hand. After a two-stage tendon graft operation was performed, the patient regained full flexion of the index finger and was able to hold a fist without any limitations in range of motion. Complete rupture of tendons usually accompanies history of trauma or underlying tendon pathology. In our case, however, the tendon rupture occurred silently with no obvious underlying causes. It is important to recognize the signs to evaluate the underlying structures for appropriate management and treatment. Even with considerable delay, the patient may regain full function of the tendon.

Outcomes of Management of Recurrent Dupuytren Contracture: A Systematic Review and Meta-analysis.

Background:With numerous treatment modalities available, it is unclear whether the treatment of recurrent Dupuytren disease is as effective as its initial treatment. We aimed to investigate the outcomes of management of recurrent Dupuytren contracture.Methods:Adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, MEDLINE, Embase, PubMed, CINAHL, and Cochrane Central Register of Controlled Trials were searched from their inception to April 2020. Studies of patients aged above 18 years undergoing treatment for recurrent Dupuytren contractures were included. The Risk Of Bias In Non-randomized Studies-of Interventions tool was used for quality assessment. The study was registered with Open Science Foundation.Results:A systematic review identified 12 studies: 311 patients with 224 affected digits—index (n = 5; 2.2%), long (n = 17; 7.6%), ring (n = 57; 25.4%), small (n = 112; 50%), and unspecified (n = 33; 14.7%); of these, there were 76 metacarpophalangeal joints (MCPJ; 45.5%), 90 proximal phalangeal joints (PIPJ; 53.9%), and 1 distal interphalangeal joint (0.6%). Previous treatment included the following: percutaneous needle aponeurotomy (n = 103 of 311 patients; 33.1%), collagenase clostridium histolyticum-injection (CCH; n = 75 of 311; 24.1%), limited fasciectomy (LF) ± skin graft (n = 83 of 311; 26.7%), fasciotomy (n = 1 of 311; 0.3%), and unspecified (n = 64 of 311; 20.6%). Recurrence was treated by percutaneous needle aponeurotomy (n = 68 of 311 patients; 21.9%); CCH injection (n = 53 of 311; 17.0%); aponeurotomy or dermofasciectomy or LF (n = 176 of 311; 56.6%); ray/digit amputation (n = 8 of 311; 2.6%); and PIPJ arthrodesis (n = 6 of 293; 2.0%). Range of motion was improved by 23.31° (95% confidence interval [CI] = 13.13°-33.50°; I2 = 67%; P = .05) and 15.49° (95% CI = 2.67°-28.31°; I2 = 76%; P = .01) for MCPJ and PIPJ, respectively.Conclusions:There is low level of evidence that both surgical and nonsurgical treatments provide clinically important improvements for recurrent Dupuytren contracture.

Are There Trigger Points in the Spastic Muscles? Electromyographical Evidence of Dry Needling Effects on Spastic Finger Flexors in Chronic Stroke.

The purpose was to examine the immediate effects of dry needling to spastic finger muscles in chronic stroke. Ten chronic stroke patients with spasticity in finger flexors participated in this experiment. Dry needling to the flexor digitorum superficialis (FDS) muscle was performed under ultrasound guidance for about 30 s (about 100 times). Clinical assessment and intramuscular needle EMG readings were made before and immediately after dry needling. Immediately after needling, the FDS muscle was felt less tight to palpation and the proximal phalangeal joint rested in a less flexed position (p = 0.036). The MAS score decreased for FDS (p = 0.017) and flexor digitorum profundus (FDP) (p = 0.029). Motor unit action potential (MUAP) spikes decreased from 41.6 ± 5.5 to 6.7 ± 2.2 spikes/s (p = 0.002), an 84% reduction after dry needling. However, the pre-needling spike frequency was not correlated to MAS or resting position of the FDS muscles. Dry needling to the spastic finger flexors leads to immediate spasticity reduction, increased active range of motion, and decreased frequency of motor unit spontaneous firing spikes. The results suggest that latent trigger points possibly exist in spastic muscles and they contribute partly to spastic hypertonia of finger flexors in chronic stroke.

Assessing synovitis in the hands in patients with rheumatoid arthritis by ultrasound: an agreement study exploring the most inflammatory active side from two Norwegian trials

ObjectiveTo assess if the right hand, the dominant hand, or the hand with more clinically swollen joints (SwJ) is per se the most inflamed and exhibits the greatest change during treatment and hence preferred for unilateral scoring of synovitis by ultrasound in rheumatoid arthritis (RA) patients.MethodsUsing data from two previously published Norwegian RA patient cohorts initiating treatment, bilateral metacarpophalangeal joint 1–5, proximal phalangeal joint 2+3, and wrists were evaluated by ultrasound. Using a 0–3 scoring system a grey-scale (GS), power Doppler (PD) and global synovitis score (GLOESS) was calculated for each hand (0–30). For precision, a difference of < ± 3 in sum score was pre-specified as indicating clinically insignificant difference in inflammatory activity for all three scores.ResultsFour hundred thirty-seven RA patients were included. Baseline ultrasound inflammation was statistically significantly higher in hands with more vs fewer SwJ ([mean difference, 95%CI] GS sum score 2.21[1.30 to 3.12], PD sum score 1.70 [0.94 to 2.47] and GLOESS 2.31[1.36 to 3.26]) and also exhibited significantly more change for all sum scores at 3 months follow-up (GS sum score 1.34 [0.60 to 2.08], PD sum score 1.17 [0.44 to 1.91], and GLOESS 1.43 [0.63 to 2.22]). No such differences were found between the dominant and the non-dominant or the right and the left hands at any time points.ConclusionThe hand with clinically more SwJ is statistically more inflammatory active according to GS, Doppler, and GLOESS sum scores, exhibits a change during treatment, and is potentially the best choice for unilateral scoring systems.

Radiographic Remodeling of the Proximal Phalangeal Head Using a Stretching Exercise in Patients With Camptodactyly

The aims of this study were to verify proximal phalangeal head normalization after a stretching exercise in patients with infantile-type camptodactyly and to propose radiographic indices for quantifying bony deformities. Forty-eight fingers of 20 patients with camptodactyly were enrolled in this study. All patients and their parents received instruction on how to perform the stretching exercise. The qualitative assessments of proximal phalangeal head remodeling were conducted by consensus of 2 hand surgeons. Two radiographic parameters, head triangle ratio (HTR) and head angle (HA), were measured on finger lateral radiographs taken at the initial visit and at 12-month follow-up. The intra- and interobserver reliability of both parameters was assessed. Those parameters of the patients were compared with those of 177 fingers of 80 children without camptodactyly. The extent of proximal interphalangeal (PIP) joint flexion contracture was used to evaluate clinical outcomes resulting from nonsurgical treatment. Qualitative assessments of proximal phalangeal head remodeling exhibited meaningful improvements. Both radiographic parameters showed significant change between their status before and after intervention and had excellent intra- and interobserver reliability. Average PIP joint flexion contracture significantly improved. In the noncamptodactyly group, neither parameter showed significant differences in accordance with finger types and age ranges. Stretching improved movement within the proximal phalangeal joint and helped to restore proximal phalangeal head roundness and concentricity in patients with infantile-type camptodactyly. The HTR and HA would be useful indices for objectively assessing the degree of bony deformity in patients with camptodactyly. Therapeutic IV.

Diagnosis and treatment of thumb polydactyly with symphalangism in children

To investigate the diagnosis and treatment of thumb polydactyly with symphalangism in children. Seven cases of thumb polydactyly with symphalangism were treated between January 2013 and May 2017. There were 5 males and 2 females, aged from 10 months to 11 years, with an average age of 3.1 years. The thumb-polydactyly was diagnosed with MRI and it was seen that the base of radial multi-finger and the proximal phalangeal joint were connected by cartilage. All patients were treated with resection, lateral collateral ligament reconstruction, bone osteotomy and internal fixation. The operation was successfully completed, and there was no early complications such as infection and flap necrosis. All patients were followed up 6-23 months (mean, 14.1 months). At last follow-up, there was no deformity finger, scar contracture, and other complications. The extension of the interphalangeal joint was no limited, and the flexion range of the interphalangeal joint was 20-75° (mean, 56.7°). The appearance and function of the thumb was rated as excellent in 3 cases and good in 4 cases by Japanese Society for Surgery of the Hand (JSSH) scoring, with the excellent and good rate of 100%. The thumb polydactyly with symphalangism in children can be combined with clinical manifestations, X-ray film, and MRI examination to diagnose, and can obtain satisfactory results through the reconstruction of lateral collateral ligament, bone osteotomy, and internal fixation.

Cemented K-wire fixation for the treatment of shaft fractures of middle phalanges

BackgroundThe objective of this report is to introduce an external-fixation technique using the combination of K-wires and cement. MethodsFrom February 2009 to January 2015, 51 patients with shaft fractures of middle phalanges were treated with cemented K-wire fixation. The mean age of patients at surgery was 41 years. The mean time interval from injury to operation was 6±5.78days. Injured digits included index (n=18), long (n=15), ring (n=7), and little (n=11) fingers. Types of fractures were transversal (n=32), short oblique or spiral (n=5), and comminuted (n=14) fractures. Active range of motion of the fingers was measured. Total active motion was scored based on the American Society for Surgery of the Hand. All measurements were compared with those on the opposite fingers. Patients also reported on their satisfaction using the 100-mm visual analogue scale. ResultsAt the final follow-ups of 2 years, range of motion of metacarpophalangeal joint, proximal phalangeal joint, and distal interphalangeal joint reached 97%±2.88, 93%±6.65, and 96%±3.22 of the opposite fingers, respectively. Based on Total active motion scoring system, we obtained 36 excellent and 15 good results. Based on VAS, patient satisfaction was 96±3.44. ConclusionsThe cemented K-wire fixation is a reliable technique for the treatment of shaft fractures of middle phalanges. The technique is a minimally invasive procedure with minimal complications. Level of evidenceTherapeutic study, Level IVa.

Biomimetic finger extension mechanism for soft wearable hand rehabilitation devices.

For the rehabilitation and assistance of the hand functions, wearable devices have been developed, and the interest in tendon driven mechanisms have especially increased since it allows light weight and compact design. The tendon driven hand rehabilitation devices provides grasping force via exo-tendons routed on the dorsal and palmar sides of the hand pulled by remotely located actuators. However, most of the devices were not able to provide natural joint extension sequence of the finger and showed hyperextension of finger joints because the tendons for extension were fixed at the fingertip, concentrating the torque at the distal interphalangeal joint. In this study, a ring-type biomimetic finger extension mechanism was developed, which mimics the origin, structure, and orientation of the extensor tendon. The biomimetic mechanism was evaluated by comparing the motion with voluntary finger extension and the motion made by other conventional tendon driven finger extension mechanisms. The biomimetic extension mechanism provided the same joint extension sequence with voluntary finger extension, and the fully extended posture was most close to the voluntary finger extension among the tendon-driven mechanisms used in the experiments. The joint angle differences between the proposed tendon mechanism and the voluntary finger extension was -1.2 °±3.4 °, -2.9°±2.0°, and -3.1°±8.0° for distal phalangeal, proximal phalangeal, and metacarpo-phalangeal joint, respectively.

A Rare Case of an Epidermal Inclusion Cyst in the Joint Capsule of the Thumb.

A Rare Case of an Epidermal Inclusion Cyst in the Joint Capsule of the Thumb.

175. A Systematic Review of Compression Gloves in Arthritis

Background: Compression gloves (CG) are provided in rheumatoid arthritis (RA), inflammatory arthritis (IA), systemic lupus erythematosus (SLE) and hand osteoarthritis (OA) to relieve pain and swelling at night, reduce stiffness and improve hand movement and function the following morning. Gloves are usually fingerless (ie stop mid-finger) and are provided for day use for similar reasons. Compression is thought to increase blood flow and remove extracellular fluid, which increases warmth, reduces stiffness and pain and improves finger joint motion. No systematic evaluation has been conducted. The aim of this systematic review was to examine the effectiveness of CG in reducing hand symptoms and improving hand function in adults with RA, IA, SLE or hand OA. Methods: Seven databases were searched: AMED, CINAHL, MEDLINE, The Cochrane Library, PROQUEST, PubMed and Web of Science to October 2013. Randomised controlled trials (RCTs) were assessed for methodological quality using the 11 item PEDRO scale. Results: Eight studies, published between 1971 and 1992, were identified. Five were excluded as: a case report (n=1), an observational study (n=1); randomised comparisons of two types of CG (n=2); and one recoded results into, ‘improved, no change or worsened’ with no explanation for recoding criteria. The remaining three were crossover trials, comparing night use of full-length finger CG (either nylon and spandex or thermal yarn and spandex) with a placebo (either a close fitting, loose fitting or thermal) glove. PEDRO scores were 1 to 6. Sample sizes ranged from 8 to 23 in RA; and one study included 5 with hand OA. All reported completer analysis only. Objective measures included 2nd-5th proximal phalangeal (PP) or proximal interphalangeal joint (PIPJ) circumference (mms), grip strength (adapted sphygmomanometer), composite finger flexion (CFF) and dexterity. Subjective measures included pain and stiffness. In the remaining three studies, all reported a significant reduction in PP or PIPJ circumference in RA. There were no differences in swelling, grip strength, CFF or dexterity in RA or hand OA. Two reported significant improvements in pain and stiffness in RA. However, one reported the thermal placebo had similar effects, suggesting CGs are not essential to reduce pain and stiffness. Conclusions: The few, small studies identified were generally of poor quality and evidence for effectiveness of compression gloves at night is inconclusive in RA. There is no evidence as yet for day use in RA or night/day use in hand OA, SLE or IA. Medication regimens and CG manufacture have changed since studies were conducted. Further research is required.

Hypopigmentation and subcutaneous fat, muscle atrophy after local corticosteroid injection

Hypopigmentation and subcutaneous fat, muscle atrophy after local corticosteroid injection

Weichteilschonende minimal-invasive Osteosynthesen bei Mittelhandfrakturen II–V

Soft tissue protection, closed reduction or short open reconstruction of length, rotation and articulation of metacarpals. Aftercare: early active exercises protected by additive orthesis. Closed or grade1 open fractures with significant dislocation, deviation of rotation or loss of length. Fractures of the metacarpal, metaphyseal and extensive oblique or spiral fractures. Intra-articular fractures of the distal metacarpal that can be reduced without a step in articular surface. Proximal partial articular fractures that can be reduced without a step in articular surface in the mini-open technique. Grade2 and 3 open fractures, extensive bending fractures in the middle third and absence of the palmar bony restraint. Multifragmentary proximal and distal metaphyseal fractures that cannot be reduced by closed methods. Intra-articular fractures that cannot be reduced without a step in articular surface. Intramedullary antegrade or percutaneous K-wires or mini-open repair screw/K-wire osteosynthesis. Two or three finger forearm cast for about 3-4 days, subsequent metacarpal orthesis, an integrated hard cast Longuette (Combicast) SoftCast™ is preferred beginning with active and passive exercises of the fingers. In this retrospective study we analyzed metacarpal (MC) fractures that were treated with minimally invasive osteosynthesis during the period 2009-2010 and 65 patients (mean age 34.8 years, female/male 13/52) with 75 metacarpal fractures were enrolled. Fractures affected MC-2 (n=9), MC-3 (n=5), MC-4 (n=15) and MC-5 (n=46). Removal of implant was performed after 6-12 weeks in 44 patients. All fractures except one showed bony healing in x-ray. At 2-months follow-up 61 patients could be evaluated and at 27-months (15-37) follow-up 34 patients could be evaluated according to the DASH score. Median DASH score results were 16 points (SD 49, n = 61) after 2 months and median DASH score results were 5 points (SD 23, n = 34) after 27 months (15-37). Range of motion was limited in 6 patients after 8 weeks (range 6-12 weeks) with a deficit in flexion of finger to distal palmar crease of 1.0cm (range 0.5-1.5cm), 2 patients showed a deficit in finger extension of 10° in the metacarpophalangeal joint. One patient showed restricted finger extension of 15° in the proximal phalangeal joint after tendon rupture and tendon reconstruction. Complications were observed, such as circumscribed redness in two patients at the entry point of k-wires which was managed by early removal of the implant. Perforation of the k-wire occurred in one patient with subcapital and diaphyseal fracture and was managed by plate osteosynthesis. One diaphyseal transverse refracture healed after plate osteosynthesis, three circumscribed cases of paresthesia occurred, one at the entry point of the K-wires and two at the level of fracture.

Melorheostosis: Case Report with 20-Year Follow-Up

The authors report on a typical case of melorheostosis observed in an 18-year-old man, localized in the II digit of the right hand causing tumefaction and irregular pain. At 20-year follow-up, the patient showed a radiographical slight worsening of the lesion. Radiographic examination showed a mild increase in cortical and endosteal hyperostosis with bone shape alteration in the II digit of the right hand, slight cortical and endosteal hyperostosis at the level of right shoulder girdle involving the humerus. The other part of the skeleton was not affected. Clinical examination revealed swelling and tumefaction of the forefinger of the right hand and reduced articular motion both in proximal and distal interphalangeal joint and metacarpal phalangeal joint. The reminder of the clinical examination was normal. Melorheostosis is an uncommon mesenchymal disorder characterized by a chondral hyperostosis of the long bones associated to a sclerosis of the spongious bone. The etiology of this affection is unknown: the most accredited hypothesis is a developmental anomaly with a sequential sclerotomes distribution. Both genders may be affected, with the long tubular bones of the lower limbs more involved. This anomaly is often asymptomatic but maybe accompanied by pain with a smooth symptom progression and periodic exacerbations. Therapy is mainly symptomatic and comprises anti-inflammatory drugs or surgical approach for removal of soft tissue that may preclude daily activities. This case report demonstrates that melorheostosis is a relatively benign disorder with mildly progressive course.

Autoimmune Disease in Chronic Granulomatous Disease (CGD): A Diverse Spectrum.

CGD is an immunodeficiency caused by defects in phagocyte oxidase with increased infections. A major characteristic is extensive granuloma formation associated with infection. However, unusual autoinflammatory processes have been reported in CGD patients that may be autoimmune disease. We outline the spectrum of autoimmune disorders in CGD, making a case for these patients actually having an autoimmune disorder, rather than this being extremes of CGD granuloma formation. The most common autoimmune disease candidate in CGD is inflammatory bowel disease affecting almost 20% of CGD patients, satisfying diagnostic criteria established for Crohn's disease. X-linked CGD carriers and patients can develop discoid lupus. There are many reports about Crohn's disease and discoid lupus in CGD. We previously reported in detail 2 CGD patients with sarcoidosis (Pediatrics 2006 Mar;117(3):e590–5) making note of this here, but do not re-describe the cases. Here we present 3 additional cases of CGD patients with other unusual autoinflammatory processes responsive to immunesuppression, that extend the spectrum of autoimmune diseases observed in CGD. Patient #1: X-linked CGD patient presenting at age 14yrs with acute swelling, pain and redness of the left thigh secondary to deep venous thrombosis. Several months later while on warfarin 3·5mg/d daily with INR of 3, he developed extensive intracerebral sinus thrombosis, and subsequent further extension of clots in his left calf. A trial of oral prednisone at 0.5mg/kg/day was commenced. Within 24 hours, symptoms improved dramatically. Prednisone was tapered, with intermittent increases for symptom flares, to current maintenance of 5mg/d. Patient #2: X-linked CGD at age 9mo presented with respiratory distress and a pericardial effusion without fevers, trauma or infection. The pericardial effusion resolved with combined therapy of antibiotics and oral prednisone. 6 months later, the pericardial effusion recurred, a repeat infectious work-up was negative, and he promptly responded to oral prednisone alone. This pattern recurred every few months without precipitating events until he was 4 years of age and then had a recurrence at age 10yrs. Patient #3: Female with p47phox-deficient CGD who at age 15yrs developed arthralgias that progressed to involve elbows, knees, metacarpal-phalangeal, and proximal phalangeal joints bilaterally. Erythematous maculopapules were present on arms and forehead, with bilateral swelling in metacarpal-phalangeal and proximal interphalangeal joints, as well as development of rheumatoid nodules. A positive rheumatoid factor serology was found. Treatment with non-steroidal anti-inflammatory medications and minocycline resulted in short-lived improvement, but remission was achieved with etanercept. The 3 patients above who have not been previously reported, extend the unusual spectrum of autoimmune diseases associated with CGD. We raise the possibility that CGD may be a co-factor in the overt development of autoimmune diseases in patients with an underlying genetic predisposition, rather than this being merely extremes of the spectrum of granuloma formation specific to CGD. This represents a paradigm shift, and has significant implications for diagnosis and management. Maintaining a high index of suspicion for autoimmune disorders in patients with CGD will minimize unnecessary invasive procedures, and allows early institution of appropriate therapy reducing risks of long-term complications.

Hereditary Anchylosis of the Proximal Phalangeal Joints (Symphalangism)

Hereditary Anchylosis of the Proximal Phalangeal Joints (Symphalangism)

Klinische und biochemische Aspekte der Xanthomatose unter besonderer Berücksichtigung der Gelenkbeteiligung

During a three-year period (1981-1983) disturbances of lipid metabolism were seen in 2,057 (13.7%) out of a total of 15.009 patients at the Silesian Rheumatological Hospital in Ustroń. Xanthomatosis was diagnosed in 53 patients among those who had hyperlipoproteinaeia. 16 of these patients were women (30%) and 37 men (70%). The following conclusions can be drawn:1. Xanthomatosis is a disease of middle age and occurs more often in men than in women.2. The tendinous type of xanthomatosis develops in type IV of hyperlipoproteinaemia.3. Chronic and relapsing joint inflammations can occur in both Type II and Type III or Type IV hyperlipoproteinemias.4. Joints predisposed for xanthomatosis are, besides the knee and ankle joints, also the proximal phalangeal and metacarpophalangeal joints, as well as the hallux.