BACKGROUND: Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal genes in the chromosome 14q32 region, respectively. We present a rare prenatally diagnosed case of recurrent KOS inherited from a mother affected by TS.
METHODS: The woman\'s two affected pregnancies exhibited recurrent manifestations of prenatal overgrowth, polyhydramnios, and omphalocele, as well as a small bell-shaped thorax with coat-hanger ribs postnatally. Prenatal genetic testing using a single-nucleotide polymorphism array detected a 268.2-kb deletion in the chromosome 14q32 imprinted region inherited from the mother, leading to the diagnosis of KOS. Additionally, the woman carried a de novo deletion in the paternal chromosome 14q32 imprinted region and presented with short stature and small hands and feet, indicating a diagnosis of TS.
CONCLUSIONS: Given the rarity of KOS as an imprinting disorder, accurate prenatal diagnosis of this rare imprinting disorder depends on two factors: (1) increasing clinician recognition of the clinical phenotype and related genetic mechanism, and (2) emphasizing the importance of imprinted regions in the CMA workflow for laboratory analysis.

OBJECTIVE: Recently, the HAND osteoarthritis (OA) ULTRASOUND (US) Examination (HOUSE) inflammatory and structural damage scores were developed by the OMERACT US working group. However, the thumb base was not or only partly included. This systematic review examines US scoring methods and scanning techniques assessing thumb base OA, alongside existing evidence on validity, reliability, and responsiveness.
METHODS: A comprehensive search strategy in three different databases identified 30 eligible studies.
RESULTS: In general, studies predominantly focused on US assessment of the carpometacarpal (CMC) 1 joint, with fewer investigating the scaphotrapeziotrapezoid (STT) joint. Most studies utilized a semiquantitative scale for scoring structural and inflammatory features, aligning with the HOUSE scoring system. Validity was supported by a limited number of studies, with one demonstrating a positive association between US structural damage and radiographic damage, and another showing a similar association with function. Associations between US inflammatory features and pain were observed, albeit with some variability. Reliability was from moderate to good for the CMC1 joint but limited for STT joint. Responsiveness varied across studies. The methodological quality of included studies varied, indicating areas for future research improvement.
CONCLUSIONS: While promising, additional research is necessary to validate the HOUSE scoring system and improve its clinical utility for thumb base OA assessment. Future research should concentrate on optimal scanning positions and on the reliability and responsiveness of the HOUSE scoring system.

Background: Arthroscopic debridement is increasingly being utilised in patients with early-stage first carpometacarpal joint (FCMCJ) arthritis but has limited supportive evidence. This systematic review evaluates the literature, and reports on outcomes and adverse events following this procedure. Methods: An electronic literature search of PubMed, Embase, Medline and Cochrane Central, looking for studies describing outcomes following arthroscopic debridement in FCMCJ arthritis, was performed in November 2022. Studies where bony resection or interposition was performed as adjuncts were excluded. Reported outcomes included visual analogue scores (VAS) for pain; Disabilities of Arm, Shoulder and Hand (DASH) scores; pinch and grip strength; complications and re-operations. Results: Out of a total of 90 studies revealed from the search, only two studies were eligible for inclusion, with a cohort of 34 patients. Following arthroscopic debridement for FCMCJ osteoarthritis, the mean VAS improved by four units, mean DASH by 22 points, grip strength by 4.5 kg and pinch strength by 2 kg at mean follow-up of 18 months. The pooled complication and re-operation rates were 8.8% and 23.5%, respectively. Conclusions: There is a lack of evidence supporting the utility of FCMCJ arthroscopy and debridement in the management of patients with early arthritis. Although the limited evidence suggests that there may be some therapeutic benefit, further large-scale prospective studies need to be performed before making conclusive recommendations. Level of Evidence: Level III (Therapeutic).

Human hands have a complex anatomical structure. The thumb, being an integral part of the hand, has an essential function in gripping. In this sense, thumb fractures account for 4% of all hand fractures (it may occur in association with fractures of the trapezium). The majority of hand fractures should be treated non-surgically and surgeons must avoid unnecessary surgery. Historically, hand surgery has used a combination of local/regional/general anaesthesia and a tourniquet. This study aims to carry out a systematic review to determine whether the WALANT technique is an advantageous alternative to conventional anaesthesia for surgical procedures on thumb injuries, in terms of patient function and pain.
METHODS: We conducted a search in the following databases: Pubmed/Medline, EBSCOhost, Web of Science, Scopus, ScienceDirect and Google Scholar, using the equation \"WALANT\" OR \"Wide Awake Local Anesthesia No Tourniquet\" AND \"thumb pathology\".
RESULTS: In five of the 584 articles included, two studied trapeziometacarpal osteoarthritis, one De Quervain\'s disease and the remaining two flexor injuries. WALANT showed good results in active movements, but with similar levels of pain between anaesthetics. Patients were more anxious during general anaesthesia, plus the fact that they were fasting and suspending medication.
CONCLUSIONS: WALANT is a convenient and favourable option in several studies. It has been demonstrated the benefits in terms of return to function and pain.

Thumb carpometacarpal (CMC) joint osteoarthritis (OA) is increasingly treated with total joint arthroplasty (TJA). We aimed to perform a systematic review and meta-analysis of the benefits and harms of the TJA for thumb CMC OA compared with other treatment strategies.
We performed a systematic search on MEDLINE and CENTRAL databases on August 2, 2023. We included randomized controlled trials investigating the effect of TJA in people with thumb CMC joint OA regardless of the stage or etiology of the disease or comparator. The outcomes were pooled with a random effect meta-analysis.
We identified 4 studies randomizing 420 participants to TJA or trapeziectomy. At 3 months, TJA\'s benefits for pain may exceed the clinically important difference. However, after 1-year follow-up TJA does not improve pain compared with trapeziectomy (mean difference 0.53 points on a 0 to 10 scale; 95% confidence interval [CI] 0.26-0.81). Furthermore, it provides a transient benefit in hand function at 3 months (measured with Disabilities of Arm, Shoulder, and Hand questionnaire, scale 0-100, lower is better) compared with trapeziectomy with or without ligament reconstruction tendon interposition. The benefit in function diminished to a clinically unimportant level at 1-year follow-up (4.4 points better; CI 0.42-8.4).
Transient benefit in hand function for TJA implies that it could be a preferable option over trapeziectomy for people who consider fast postoperative recovery important. However, current evidence fails to inform us if TJA carries long-term higher risks of revisions compared with trapeziectomy.

BACKGROUND: Amateur and professional participation in sport and physical activity worldwide is increasing in popularity, which in turn is increasing the volume and types of injuries sustained by athletes. Ensuring these injuries are treated appropriately and efficiently is paramount for athletes\' recovery and return to sport in a timely and safe manner.
METHODS: A scoping review to map the evidence regarding the treatment, outcomes and management of hand, wrist, finger, and thumb injuries in the professional/amateur athlete from contact sports. A search of seven electronic databases; SPORTdiscus, CINAHL, Medline, Scopus, Web of Science, Embase and Cochrane Library and grey literature was conducted in January 2024. The reporting of the review is in line with the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews Checklist. Inductive content analysis was used to examine the data and the Critical Appraisal Skills Programme was used to appraise the quality of the included studies.
RESULTS: Eight papers met the inclusion criteria and three themes emerged addressing the return to play/sport, surgical and conservative treatment and the most common/reoccurring injuries sustained from contact sports.
CONCLUSIONS: Managing hand, wrist, finger, and thumb injuries in athletes requires a varied approach depending on the type of injury, treatment options, and external pressures. While conservative treatment is common and effective, surgical intervention may be necessary in certain cases to improve recovery and facilitate a faster return to sport. Preventive measures in high-risk sports settings could help reduce the incidence of these injuries.

Osteoblastomas (OBs) are benign neoplasms constituting approximately 1% of primary bone tumors with a predilection for the spine and sacrum. We describe an OB of the proximal phalanx of the left thumb in a 38-year-old female. MRI of left hand demonstrated a 29-mm mildly expansile enhancing lesion involving the entire proximal phalanx of the first digit. Histology displayed a bone-forming tumor consisting of trabeculae of remodeled woven bone framed by plump osteoblasts in a vascularized background. Next-generation sequencing analysis identified a PRSS44::ALK fusion gene.

We describe the case of a 6-year-old female who presented with tender nodules and fixed flexion of her thumbs, diagnosed as bilateral pediatric trigger thumb. Though present since infancy, her condition was not diagnosed in prior clinical visits. Pediatric trigger digit is a clinical diagnosis, often missed if the digit\'s range of motion is not assessed routinely. Given the duration, pain, and severity of her condition, conservative management was deferred, and she was referred for surgery. An approach to clinical management is discussed. Ultimately, further study is required to develop structured management guidelines for pediatric trigger digit.

A glomus tumor (GT) is a rare and usually benign tumor that originates from the glomus body, which is involved in thermoregulation in the skin. Solitary or multiple, digital or extra-digital, these cutaneous tumors can be benign or malignant. This report describes the diagnosis and surgical management of a solitary glomus tumor at the base of the right thumb in a young Sudanese woman. The diagnosis of glomus tumor was confirmed by medical history, sonographic findings and histopathological report. The lesion was excised via direct complete excision under local anesthesia, resulting in a complete resolution of symptoms. Owing to its high sensitivity level, the use of ultrasound is appropriate to evaluate a lesion suspected to be a glomus tumor. A clinician needs to take into consideration the likelihood of glomus tumors when assessing a patient who has a skin lesion on fingers, toes, or extra-digital area, with pain triggered by temperature changes, pressure, or touch. Additionally, this report includes a review of recent globally reported cases of glomus tumor in the hand to highlight the distinctiveness of this report in context to its atypical location in the area of the thenar eminence and underscoring it as a unique report of its kind from Saudi Arabia.

(1) Background: Dislocations of the trapeziometacarpal joint (TMC) are uncommon in children and adolescents. Only a few isolated cases are reported in the literature. Therapeutic guidance is minimal and inconclusive. (2) Methods: The authors present four patients treated for this unusual lesion. We evaluated the evolution according to treatment, age, patient activity, and quickDASH. Despite the clear limitation of the small number of patients, it is relevant to try to better understand this lesion and its evolution. A systematic review of the literature was also conducted. (3) Results: This is the largest published series of TMC dislocations in children and adolescents. Patients included a 12-year-old girl treated conservatively with a poor quickDASH; a 9-year-old girl treated surgically with the Eaton-Littler technique for a new dislocation with a partially modified quickDASH; a 13-year-old boy with two necessary closed reductions for a new dislocation and a very good final quickDASH; and a 12-year-old boy treated with closed reduction and percutaneous fixation with excellent final results with quickDASH. (4) Conclusions: In the absence of scientific evidence, conservative treatment and ligament reconstruction did not provide good functionality. In contrast, closed reduction with percutaneous fixation provided excellent results. Therefore, the authors would recommend closed reduction and percutaneous needle fixation as an elective method to treat TMC dislocations in pediatric and adolescent patients.