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1.
Article in Dutch | MEDLINE | ID: mdl-39382354

ABSTRACT

A 74-year-old man, previously healthy, presented at the Dermatology department with an asymptomatic hand lesion persisting for two months. The general practitioner initially treated the lesion with betamethasone and fusidic acid cream. Examination revealed a 3 cm livid plaque with central crusts. A biopsy confirmed cutaneous leishmaniasis tropica. The patient travelled to Greece, Spain, and Southern France before the lesion occurred, which is consistent with the endemicity of leishmaniasis in the Mediterranean. Treatment involved cryotherapy and antimony injections, resulting in lesion resolution after two sessions. This case underscores the importance of considering travel history and endemic diseases in diagnosing and managing dermatological conditions, especially in regions prone to specific infections.


Subject(s)
Leishmaniasis, Cutaneous , Humans , Male , Aged , Leishmaniasis, Cutaneous/diagnosis , Leishmaniasis, Cutaneous/drug therapy , Leishmaniasis, Cutaneous/pathology , Treatment Outcome , Cryotherapy , Travel , Hand/pathology
2.
BMC Infect Dis ; 24(1): 950, 2024 Sep 10.
Article in English | MEDLINE | ID: mdl-39256639

ABSTRACT

BACKGROUND: Even though tuberculosis is a common disease among children in developing countries, tuberculous dactylitis is an uncommon form of Skeletal tuberculosis specially with involvement of both the hands and feet. CASE PRESENTATION: A one-and-a-half-year-old previously healthy female Ethiopian toddler presented to our pediatric outpatient clinic with a history of two-month duration of painful multiple swellings over both her hands and feet. The swelling involved the proximal phalanx of the left index finger, dorsum of the right hand, and dorsum of both feet over the first metatarsal bone. Physical examination, radiologic findings, and histopathology suggested tuberculous dactylitis. The patient was treated with anti-tuberculosis drugs for one year and she showed clinical and radiologic improvement and recovery. CONCLUSION: Tubercular dactylitis should be considered in the differential diagnosis of children from endemic areas presenting with bone and joint pain or swelling. Our experience of a twelve-month course of antitubercular treatment, which is in line with WHO recommendations, for skeletal tuberculosis, showed excellent outcomes.


Subject(s)
Antitubercular Agents , Hand , Tuberculosis, Osteoarticular , Humans , Female , Tuberculosis, Osteoarticular/drug therapy , Tuberculosis, Osteoarticular/diagnosis , Tuberculosis, Osteoarticular/diagnostic imaging , Antitubercular Agents/therapeutic use , Hand/pathology , Hand/microbiology , Infant , Ethiopia , Radiography , Foot/pathology , Foot/microbiology , Treatment Outcome
3.
Emerg Med J ; 41(9): 513-519, 2024 Aug 21.
Article in English | MEDLINE | ID: mdl-39168510

Subject(s)
Hand , Female , Humans , Hand/pathology
6.
Int J Mol Sci ; 25(13)2024 Jun 22.
Article in English | MEDLINE | ID: mdl-38999972

ABSTRACT

Dupuytren's disease, a chronic and progressive fibroproliferative lesion of the hand, which affects the palmar fascia, has a recurrence rate after selective aponeurotomy of 20-40% at 5 years. This study focused, for the first time, on the microanatomical and histopathological characteristics of the longitudinal and vertical fibres (usually spared during surgery) in the aponeurosis with Dupuytren's disease, in different stages of the Tubiana's classification. Twelve human samples were collected and analysed by immunostaining, Total Collagen Assay, ELISA Immunoassay, and immunoblotting for the Von Willebrand factor, α-Sma, D2-40, CD-68, Total Collagen, Collagen-I and III, IL1ß, TNF-α to analyse the blood and lymphatic vascularization, the amount and distribution of collagen, and the inflammation. The results show a progressive increase in the arterial vascularization in the vertical fibres (from 8.8/mm2 in the early stage to 21.4/mm2 in stage 3/4), and a parallel progressive decrease in the lymphatic drainage (from 6.2/mm2 to 2.8/mm2), correlated with a local inflammatory context (increase in IL-1ß and TNF-α until the stage 2) in both the longitudinal and vertical fibres. The acute inflammation after stage 2 decreased, in favour of a fibrotic action, with the clear synthesis of new collagen (up to ~83 µg/mg), especially Collagen-I. These results clearly demonstrate the involvement of the septa of Legueu and Juvara in the disease pathology and the modifications with the disease's progression. A greater understanding of the pathology becomes fundamental for staging and the adequate therapeutic timing, to obtain the best morpho-functional result and the lowest risk of complications.


Subject(s)
Aponeurosis , Dupuytren Contracture , Humans , Dupuytren Contracture/pathology , Dupuytren Contracture/metabolism , Male , Female , Aponeurosis/pathology , Aponeurosis/metabolism , Middle Aged , Aged , Collagen/metabolism , Hand/pathology , Interleukin-1beta/metabolism , Tumor Necrosis Factor-alpha/metabolism , Collagen Type I/metabolism
9.
RMD Open ; 10(2)2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38886001

ABSTRACT

OBJECTIVES: To train, test and validate the performance of a convolutional neural network (CNN)-based approach for the automated assessment of bone erosions, osteitis and synovitis in hand MRI of patients with inflammatory arthritis. METHODS: Hand MRIs (coronal T1-weighted, T2-weighted fat-suppressed, T1-weighted fat-suppressed contrast-enhanced) of rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients from the rheumatology department of the Erlangen University Hospital were assessed by two expert rheumatologists using the Outcome Measures in Rheumatology-validated RA MRI Scoring System and PsA MRI Scoring System scores and were used to train, validate and test CNNs to automatically score erosions, osteitis and synovitis. Scoring performance was compared with human annotations in terms of macro-area under the receiver operating characteristic curve (AUC) and balanced accuracy using fivefold cross-validation. Validation was performed on an independent dataset of MRIs from a second patient cohort. RESULTS: In total, 211 MRIs from 112 patients (14 906 region of interests (ROIs)) were included for training/internal validation using cross-validation and 220 MRIs from 75 patients (11 040 ROIs) for external validation of the networks. The networks achieved high mean (SD) macro-AUC of 92%±1% for erosions, 91%±2% for osteitis and 85%±2% for synovitis. Compared with human annotation, CNNs achieved a high mean Spearman correlation for erosions (90±2%), osteitis (78±8%) and synovitis (69±7%), which remained consistent in the validation dataset. CONCLUSIONS: We developed a CNN-based automated scoring system that allowed a rapid grading of erosions, osteitis and synovitis with good diagnostic accuracy and using less MRI sequences compared with conventional scoring. This CNN-based approach may help develop standardised cost-efficient and time-efficient assessments of hand MRIs for patients with arthritis.


Subject(s)
Deep Learning , Magnetic Resonance Imaging , Osteitis , Synovitis , Humans , Osteitis/diagnostic imaging , Osteitis/etiology , Osteitis/diagnosis , Osteitis/pathology , Synovitis/diagnostic imaging , Synovitis/etiology , Synovitis/diagnosis , Magnetic Resonance Imaging/methods , Male , Female , Middle Aged , Arthritis, Rheumatoid/diagnostic imaging , Arthritis, Rheumatoid/complications , Hand/diagnostic imaging , Hand/pathology , Arthritis, Psoriatic/diagnostic imaging , Arthritis, Psoriatic/diagnosis , Adult , Aged , ROC Curve , Severity of Illness Index , Neural Networks, Computer
11.
J Hand Surg Eur Vol ; 49(7): 831-842, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38663875

ABSTRACT

Malignant melanoma is the leading cause of death from skin cancer. In spite of significant advances in the management of melanoma with the advent of sentinel lymph node biopsy (SLNB) and adjuvant oncological therapies, the death rate continues to increase worldwide. Melanoma in the hand poses additional diagnostic and management challenges. Consequently, these tend to present at a later stage and are associated with a poorer prognosis. It is imperative that hand surgeons treat any pigmented hand lesion with suspicion to ensure rapid diagnosis and treatment. This article outlines the presentation of melanoma, and how to investigate suspicious pigmented lesions of the hand and digits. It guides hand surgeons in their approach to melanoma of the hand, outlining the multidisciplinary team approach as well as current standard surgical and reconstructive options to optimize outcomes.


Subject(s)
Hand , Melanoma , Skin Neoplasms , Humans , Melanoma/pathology , Melanoma/surgery , Melanoma/therapy , Melanoma/diagnosis , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Skin Neoplasms/therapy , Skin Neoplasms/diagnosis , Hand/surgery , Hand/pathology , Sentinel Lymph Node Biopsy
12.
Int J Dermatol ; 63(9): 1172-1174, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38426359

ABSTRACT

A 60-year-old female with diabetes and hypothyroidism presented with a 2-year history of asymptomatic elevated lesions on the dorsum of her hands.


Subject(s)
Hand Dermatoses , Humans , Female , Middle Aged , Hand Dermatoses/pathology , Hand Dermatoses/diagnosis , Hypothyroidism/complications , Hand/pathology
13.
J Clin Lipidol ; 18(3): e452-e464, 2024.
Article in English | MEDLINE | ID: mdl-38461119

ABSTRACT

BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. PURPOSE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed. RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. CONCLUSION: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.


Subject(s)
Chenodeoxycholic Acid , Tremor , Xanthomatosis, Cerebrotendinous , Humans , Xanthomatosis, Cerebrotendinous/drug therapy , Xanthomatosis, Cerebrotendinous/diagnosis , Xanthomatosis, Cerebrotendinous/genetics , Xanthomatosis, Cerebrotendinous/complications , Chenodeoxycholic Acid/therapeutic use , Adolescent , Male , Female , Tremor/drug therapy , Adult , Child , Young Adult , Retrospective Studies , Exanthema , Hand/pathology , Cholestanetriol 26-Monooxygenase/genetics
14.
Int J Immunogenet ; 51(3): 157-163, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38441233

ABSTRACT

Genome-wide association study identified common variants within the ALDH1A2 gene as the susceptible loci of hand osteoarthritis (HOA) in UK and Iceland populations. Located in chromosome 15, ALDH1A2 encodes aldehyde dehydrogenase family 1 member A2, which is an enzyme that catalyses the synthesis of retinoic acid from retinaldehyde. Our purposes were to replicate the association of functional variant in ALDH1A2 with the development of HOA in the Chinese population. Variant rs12915901 of ALDH1A2 was genotyped in 872 HOA patients and 1223 healthy controls. Subchondral bone samples were collected from 40 patients who had undergone a trapeziectomy, and the tissue expression of ALDH1A2 was analysed. The chi-square analysis was used to compare the frequency of genotype and risk allele between the HOA cases and controls. The Student t test was used to compare the mRNA expression of ALDH1A2 between patients with genotype AA/AG and those with genotype GG. The frequency of genotype AA was significantly higher in HOA patients than in the controls (7.6% vs. 5.1%, p = .01). The frequency of allele A was significantly higher in the patients than in the controls (28.9% vs. 24.6%, p = .005). The mRNA expression of ALDH1A2 was 1.31-folds higher in patients with genotype GG than in the patients with genotype AA/AG (0.000617 ± 0.000231 vs. 0.000471 ± 0.000198, p = .04). Variant rs12915901 of ALDH1A2 contributed to the susceptibility of HOA in the Chinese population. Allele A of rs12915901 can add to the risk of HOA possibly via down-regulation of ALDH1A2 expression.


Subject(s)
Aldehyde Dehydrogenase 1 Family , Asian People , Genetic Predisposition to Disease , Genotype , Osteoarthritis , Polymorphism, Single Nucleotide , Adult , Aged , Female , Humans , Male , Middle Aged , Aldehyde Dehydrogenase 1 Family/genetics , Alleles , Asian People/genetics , Case-Control Studies , China , East Asian People , Gene Frequency , Genome-Wide Association Study , Hand/pathology , Osteoarthritis/genetics , Osteoarthritis/pathology
16.
J Hand Surg Am ; 49(4): 373-376, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38363260

ABSTRACT

In recent years, there is increasing literature in cardiac and hand surgery journals demonstrating a stronger association between seemingly idiopathic carpal tunnel and amyloidosis. Despite this, it can be difficult for hand surgeons to identify who need biopsies, and this is further complicated by the cost of a biopsy and the low likelihood that a patient has cardiac amyloidosis. In patients with cardiac amyloidosis and carpal tunnel syndrome (CTS), CTS is typically diagnosed 5-10 years prior. Early diagnosis of cardiac amyloidosis is crucial, as current medications work to slow disease progression, but do not treat existing amyloid deposits. Hand surgeons can play an essential role in early diagnosis. The patient case discussed describes a man who had a carpal tunnel biopsy because of his bilateral CTS, recurrent trigger fingers, and his age. After confirmation of amyloidosis, he was referred for cardiac amyloidosis evaluation. Testing confirmed this diagnosis, and he was started on tafamidis, which studies show provide patients an opportunity for increased survival and quality of life. The responsibility falls on cardiologists and hand surgeons to continue refining the indications for carpal tunnel biopsy and spreading awareness of carpal tunnel biopsy and amyloid testing, as much work is still needed.


Subject(s)
Amyloidosis , Carpal Tunnel Syndrome , Male , Humans , Carpal Tunnel Syndrome/etiology , Carpal Tunnel Syndrome/surgery , Carpal Tunnel Syndrome/diagnosis , Quality of Life , Amyloidosis/complications , Amyloidosis/diagnosis , Amyloidosis/surgery , Hand/surgery , Hand/pathology , Biopsy/adverse effects
17.
Ann Anat ; 253: 152228, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38340878

ABSTRACT

BACKGROUND: The first extensor compartment of the wrist is known as a frequent site of stenosing tenosynovitis, referred to as de Quervain's disease. De Quervain's disease occurs more frequently in the dorsal part of the first extensor compartment than in the palmar part; however, the anatomical reason why the dorsal part is worse remains poorly elucidated. This study clarified the morphological differences between the dorsal and palmar parts by examining their relationship with the surrounding structures. METHODS: In this study, a total of 35 wrists from 23 Japanese cadavers were used. Twenty-five wrists were randomly assigned for macroscopic analysis, and the remaining 10 wrists were used for histological analysis. RESULTS: The palmar septum of the first extensor compartment was connected to the brachioradialis tendon and superficial head of the pronator quadratus and was histologically stout compared to the dorsal septum. Despite several anatomical variations, such as the septum between the abductor pollicis longus/extensor pollicis brevis and the multiple tendons of these muscles, the aforementioned characteristics of the fibrous sheath in the first extensor compartment were identical in all specimens. CONCLUSION: In contrast to the fragile structure of the dorsal septum, the stout structure of the palmar septum could be related to the low occurrence of symptoms of de Quervain's disease. The present results could play a role in revealing the pathogeny and establish the precise treatment for de Quervain's disease and provide an anatomical basis for kinesiological/biomechanical studies.


Subject(s)
De Quervain Disease , Humans , De Quervain Disease/pathology , Muscle, Skeletal/pathology , Tendons/anatomy & histology , Forearm , Hand/pathology
20.
Curr Rheumatol Rep ; 26(4): 103-111, 2024 04.
Article in English | MEDLINE | ID: mdl-38214806

ABSTRACT

PURPOSE OF THE REVIEW: Erosive hand osteoarthritis (EHOA) is an aggressive form of hand osteoarthritis that leads to significant disability, and recent data suggests that it is increasing in prevalence. This review provides an update of our current understanding of epidemiology, genetic associations, biomarkers, pathogenesis, and treatment of EHOA, with particular focus on studies published within the last 5 years. RECENT FINDINGS: New studies of EHOA have identified new genetic loci associated with disease, including variants in genes involved in inflammation and bone remodeling. Preclinical studies implicate pathways of innate immunity, including some that may be causal in the condition. Recent novel studies showed that inflammatory features identified by ultrasound and MRI are associated with development of erosive lesions over time on conventional radiography. In the future, these imaging modalities may be useful in identifying patients at risk of adverse outcomes. Promising new findings in genetics, biomarkers, and treatment targets will hopefully allow for future therapeutic options for this debilitating condition.


Subject(s)
Hand Joints , Osteoarthritis , Humans , Hand Joints/diagnostic imaging , Hand Joints/pathology , Osteoarthritis/epidemiology , Osteoarthritis/genetics , Osteoarthritis/therapy , Inflammation/pathology , Radiography , Biomarkers , Hand/pathology
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