Portuguese Recommendations for the management of Raynaud's phenomenon and digital ulcers in systemic sclerosis and other connective tissue diseases.

OBJECTIVE: To develop evidence-based recommendations for the non-pharmacological and pharmacological management of Raynaud's phenomenon (RP) and digital ulcers (DUs) in patients with systemic sclerosis and other immune-mediated connective tissue diseases (CTDs). METHODS: A task force comprising 21 rheumatologists, two surgeons (vascular and plastic), two nurses, and one patient representative was established. Following a systematic literature review performed to inform the recommendations, statements were formulated and discussed during two meetings (one online and one in-person). Levels of evidence, grades of recommendation (GoR), and level of agreement (LoA) were determined. RESULTS: Five overarching principles and 13 recommendations were developed. GoR ranged from A to D. The mean ± standard difference (SD) LoA with the overarching principles and recommendations ranged from 7.8±2.1 to 9.8±0.4. Briefly, the management of RP and DUs in patients with CTDs should be coordinated by a multidisciplinary team and based on shared decisions with patients. Nifedipine should be used as first-line therapy for RP and/or DUs. Sildenafil, tadalafil, and/or iloprost IV are second-line options for severe and/or refractory patients with RP and/or DUs. Sildenafil, tadalafil and/or Iloprost IV, should be prescribed for healing and prevention (also including bosentan) of DUs. In patients with RP and/or DUs, non-pharmacological interventions might be considered as add-ons, but there is limited quality and quantity of scientific evidence supporting their use. CONCLUSIONS: These recommendations will inform rheumatologists, specialist nurses, other healthcare professionals, and patients about a comprehensive and personalized management of RP and DUs. A research agenda was developed to address unmet needs, particularly for non-pharmacologic interventions.

Digital ischemic necrosis in a patient with systematic lupus erythematosus patient after severe acute respiratory syndrome coronavirus 2 infection: a case report.

BACKGROUND: Patients with coronavirus disease 2019 have a high incidence of thrombosis that decreases after recovery. When coronavirus disease 2019 is accompanied by diseases prone to thrombosis, risk of post-infection thrombotic events may increase. CASE PRESENTATION: We report a case of digital ischemic gangrene in a 24-year-old Chinese female with systemic lupus erythematosus after recovery from coronavirus disease 2019. The pathogenesis was related to clinical characteristics of systemic lupus erythematosus, hypercoagulability caused by coronavirus disease 2019, and second-hit due to viral infection. CONCLUSION: Patients with autoimmune diseases should remain alert to autoimmune system disorders induced by severe acute respiratory syndrome coronavirus 2 and other viruses. Treatment for these patients should be strictly standardized, and appropriate anticoagulation methods should be selected to prevent thrombosis.

Digital Gangrene as a Paraneoplastic Manifestation of Peripheral T-cell Lymphoma Not Otherwise Specified Type.

BACKGROUND: Peripheral T cell lymphoma (PTCL), not otherwise specified (NOS) is a heterogenous group of predominantly nodal T cell lymphomas that generally presents with lymphadenopathy with or without extra nodal involvement. Acral vascular syndrome clinically presents as digital ischemia with Raynaud's phenomenon and acral cyanosis. Although, this condition is commonly associated with connective tissue disorder, smoking and vasculitis, its association with lymphoid malignancy is very rare. Here, we present a case report of a patient with digital gangrene of all toes and fingers as a presenting symptom of PTCL-NOS. CASE DESCRIPTION: A 62 year old male presented with digital ischemia associated with pain, low grade fever, loss of appetite and significant weight loss of 6 kilograms over a period of 3 months. On examination, he was found to have bilateral inguinal and axillary lymph nodes with gangrenous changes over toes and fingers but peripheral pulses were palpable. On evaluation he had anemia, elevated ESR and CRP. CT angiogram revealed thinned out digital arteries with multifocal areas of narrowing. Patient was screened for other causes of digital gangrene and was tested negative for ANCA, ANA, cryoglobulins and viral markers. Lymph node biopsy with IHC was suggestive of peripheral T-cell lymphoma-NOS and was started on CHOP regimen. Lymph nodes size decreased and gangrenous changes resolved. CONCLUSION: Though digital ischemia is a rare paraneoplastic presentation of lymphoma, it should be considered if there is a rapid progression of gangrene. Early initiation of chemotherapy may result in the reduction of further progression of digital gangrene and thus prevent permanent disability. In our patient, progression of gangrene was prevented even though it was an aggressive variant of T cell lymphoma.

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.

Finger flexor rigidity in the healthy population.

The involvement of the hand flexors in trigger finger is not clear. This study aimed to examine the rigidity of the flexor tendon in the first pulley territory in the hand by using ultrasound in a healthy population, as well as to create a reference scale of rigidity for the flexor tendons to compare those values in trigger fingers. We tested 35 healthy volunteers using a linear ultrasound transducer and the color Doppler method. Rigidity levels below the first pulley were examined and compared between the different fingers of the hand and the relationship between rigidity and sex and the three different age groups was evaluated. In the healthy population, the rigidity of the flexor tendons of the hand in the territory of the first pulley varied between 233.1 and 962.8 kPa, with an average of 486.42 kPa and standard deviation of 114.85. We showed that the flexors in the dominant hand were more rigid, there was a difference between the rigidity of the flexor tendons of the thumb and the other fingers of the same hand, and the ring finger of the dominant hand had stiffer flexor tendons than the fingers of the other hand in the male population. We created a value scale for the rigidity of the flexor tendons of the fingers. This base scale can be compared between different pathologies, including trigger finger. The study and all experimental protocols were approved by the local ethical committee.

Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs.

Polydactyly is a genetic abnormality that affects both pig welfare and industry profits. Despite efforts to explore the genetic basis of pig polydactyly, progress remains limited. In this study, we analyzed a group of Large White pigs with postaxial polydactyly, including 29 cases and 79 controls from 24 families. High-depth sequencing was performed on 20 pigs, while low-depth sequencing was improved through imputation for the remaining pigs. A genome-wide association study (GWAS) and genetic differentiation were conducted using the resequencing dataset, resulting in the identification of 48 significantly associated SNPs and 27 candidate regions. The genetic differentiation regions on chromosomes 5 and 18, which harbored GWAS-identified SNPs, were delineated as confidence regions. The confidence region at Chr18: 1.850-1.925 Mb covers the fifth intron of LMBR1, a gene that contains an important regulatory element for SHH, known as ZRS. Mutations in this ZRS have been found to cause polydactyly in animals and humans. Therefore, we propose LMBR1 as a prospective candidate gene for postaxial polydactyly. These findings emphasize the importance of exploring the role of ZRS within LMBR1 in the pathogenesis of polydactyly in pigs.

Isolated Distal Interphalangeal Joint Flexion Contracture of the Ring Finger due to Dupuytren Disease: A Case Report.

Dupuytren disease is a common benign fibromatosis of the palmar and finger fascia caused by pathological cord formation. As both the retrovascular and lateral cords are jointly responsible for the flexion contracture of the distal interphalangeal (DIP) joint, isolated DIP joint contracture caused by Dupuytren disease is rare. We present a 34-year-old right-hand-dominant male patient with a 6-month history of an isolated DIP joint flexion contracture in the right ring finger due to Dupuytren disease. Surgical fasciotomy of the retrovascular cord improved the contracture without adverse events. It is important to pay attention to the anatomical relationships between the pathological cord and neurovascular bundle to avoid neurovascular injury during fasciotomy in patients with Dupuytren disease, especially in isolated DIP joint contracture cases. Level of Evidence: Level V (Therapeutic).

Prenatal Torsion of Radial Polydactyly: A Gangrenous Mass at the Base of the Thumb.

A patient was born with a mass at the base of the thumb approximately 1.5 cm in diameter on the radial side of the fingers. The mass had globular swelling filled with hemorrhagic fluid and was dark red. X-rays and histology of the excised specimen suggested the diagnosis of gangrene and torsion of polydactyly. Prenatal torsion of polydactyly is not a common occurrence; moreover, prenatal torsion of polydactyly has only been found in ulnar polydactyly. Our case is a novel case of radial polydactyly that was gangrenous at birth owing to prenatal torsion. Diagnosing such a mass at the base of the thumb is important.

Angioleiomyoma - A Case Report.

Angioleiomyoma is a rare benign soft tissue tumour arising from smooth muscle, representing <1% of upper limb soft tissue tumours. We report a 54-year-old male presenting with a progressively enlarging atraumatic lesion along the palmar side of the base of the ring and little finger. A biopsy was done to determine the diagnosis. Intraoperatively, the lump was found to be intimately related to the radial digital artery, it could not be excised en-bloc without transecting the radial digital artery of the little finger. Following excision, the ends of the digital artery were anastomosed. At 10-months follow-up, the hand was fully functional without any evidence of cold-intolerance or neurological deficit along the distribution of the digital nerve. We review the literature on angioleiomyoma and report careful resection of the tumour with digital artery transection and repair as a treatment option for angioleiomyoma of the digital artery. Level of Evidence: Level V (Therapeutic).

Plexiform Schwannoma of Digital Nerve.

Plexiform schwannoma is an uncommon benign tumour that grows in a plexiform pattern. We report a 47-year-old man with a mass on the palmar aspect of the metacarpophalangeal joint of the right index finger that had been growing gradually for more than 10 years. The mass was palpated from the distal carpal tunnel to the ulnar aspect of the proximal interphalangeal joint of the index finger, with tingling and numbness sensation. The tumour was a multinodular tumour involving the first common palmar digital nerve to the ulnar proper palmar digital nerve. It was resected and reconstructed with a sural nerve graft. Plexiform schwannoma is rare in the digital nerve, with only six cases reported. Generally, classic schwannomas can be enucleated without causing neurologic deficits; however, plexiform schwannoma may require nerve resection. There have been reports of recurrence of plexiform schwannoma; definitive resection and long-term follow-up are necessary. Level of Evidence: Level V (Therapeutic).

Recurrent osteoid osteoma of the index proximal phalanx: A case report with a new resection technique.

RATIONALE: Osteoid osteoma is a relatively common benign bone-forming lesion that often occurs in young adults with a predilection for the lower limbs and spine. It is characterized by the formation of osteoid tissue, a precursor to bone, and can cause pain and restricted mobility in affected areas. Osteoid osteoma of the hand and fingers is rare, thus representing a diagnostic challenge. A written informed consent was provided from the patient's father for the publication and sharing all images and clinical data concerning the patient. PATIENT CONCERNS: We are reporting a case of an 11-year-old girl who presented with persistent pain and swelling in her left index finger, as well as limited mobility, over the course of 1 year. Nonsteroidal anti-inflammatory drugs eased the pain, but it resurfaced once the medication was discontinued. DIAGNOSES: A series of investigations, showed a lytic lesion at the second proximal phalangeal neck, with features indicative of osteoid osteoma. INTERVENTIONS: Excision with bone grafting was performed as definitive therapy with pathological confirmation of the osteoid osteoma diagnosis. Nevertheless, the patient returned 2 years later with a recurrence of her previous symptoms, and further tests suggested a recurrence of osteoid osteoma. To address the recurrence, a modified open thermoablation technique was used. Thermoablation is a minimally invasive procedure that uses heat to destroy the tumor cells, and it has been shown to be effective in treating osteoid osteoma. The modified open approach involves making a small incision to access the tumor and delivering heat directly through a previously CT-guided inserted Kirschner wire to the affected area. OUTCOMES: The patient reported no pain at 1 month and 1 year after the surgery, with no radiological signs of recurrence, indicating complete excision of the lesion. LESSONS: Overall, this case highlights the challenges of diagnosing and treating osteoid osteoma in the hands and fingers. Further research is needed to better understand the underlying causes, potential risk factors, and optimal treatment for osteoid osteoma recurrence.

Reorganization of Corticospinal Projections after Prominent Recovery of Finger Dexterity from Partial Spinal Cord Injury in Macaque Monkeys.

We investigated morphologic changes in the corticospinal tract (CST) to understand the mechanism underlying recovery of hand function after lesion of the CST at the C4/C5 border in seven macaque monkeys. All monkeys exhibited prominent recovery of precision grip success ratio within a few months. The trajectories and terminals of CST from the contralesional (n = 4) and ipsilesional (n = 3) hand area of primary motor cortex (M1) were investigated at 5-29 months after the injury using an anterograde neural tracer, biotinylated dextran amine (BDA). Reorganization of the CST was assessed by counting the number of BDA-labeled axons and bouton-like swellings in the gray and white matters. Rostral to the lesion (at C3), the number of axon collaterals of the descending axons from both contralesional and ipsilesional M1 entering the ipsilesional and contralesional gray matter, respectively, were increased. Caudal to the lesion (at C8), axons originating from the contralesional M1, descending in the preserved gray matter around the lesion, and terminating in ipsilesional Laminae VI/VII and IX were observed. In addition, axons and terminals from the ipsilesional M1 increased in the ipsilesional Lamina IX after recrossing the midline, which were not observed in intact monkeys. Conversely, axons originating from the ipsilesional M1 and directed toward the contralesional Lamina VII decreased. These results suggest that multiple reorganizations of the corticospinal projections to spinal segments both rostral and caudal to the lesion originating from bilateral M1 underlie a prominent recovery in long-term after spinal cord injury.

A Case of Circumscribed Palmar or Plantar Hypokeratosis and a Mini-review of the Literature.

ABSTRACT: Circumscribed palmar or plantar hypokeratosis (CPPH) is a new dermatologic disorder that firstly defined Pérez A et al in 2002. Since that time, further cases of CPPH have been reported by different authors in different countries. We report a 69-year-old Turkish woman who presented with asymptomatic, erythematous patches on the thenar region of the left hand and on the second left finger. Skin biopsy showed histological features of CPPH. In this article, it was emphasized that CPPH may be seen more frequently than expected and the clinical and pathological features of this disease with suspected malignant transformation should be known.

Bizarre parosteal osteochondromatous proliferation (Nora's lesion) of the hand: management of a rare clinical entity.

Bizarre parosteal osteochondromatous proliferation, or Nora's lesion, is a rare benign tumour of the bone, most commonly described in the hands and feet. We present the case of a female patient in her 20s attending the hand clinic with a sudden onset, atraumatic swelling on the proximal phalanx of her right ring finger. The patient retains good hand function and remains asymptomatic 3 months after surgical excision. Our case highlights the importance of being aware of this diagnosis and differentiating it from other malignant, as well as benign tumours of the hand.

Treatment of Vascular Complications in Systemic Sclerosis: What Is the Best Approach to Diagnosis and Management of Renal Crisis and Digital Ulcers?

Vasculopathy as exemplified by scleroderma renal crisis (SRC) and digital ulcers (DUs) is a cardinal feature of systemic sclerosis (SSc) and is associated with significant morbidity, including in patients with early disease. Prompt recognition and management is required to alleviate potentially irreversible damage from SSc-associated vasculopathy. Both SRC and DUs share many etiopathogenic drivers which inform the therapeutic strategy. The aim of our review was to describe the diagnosis and management of SRC and DUs in SSc, and to discuss unmet needs for future research.