Introduction: Harlequin ichthyosis is a rare and severe congenital skin disorder of autosomal recessive origin. Ichthyosis represents a group of inherited disorders characterised by abnormal keratinisation and skin barrier dysfunction. Sonographers, fetal medicine specialists and radiologists need to be aware of this condition as it presents as an evolving fetal anomaly. Case presentation: We report a 27-year-old pregnant female who presented for a routine antenatal scan at 29 weeks. The ultrasound examination revealed a single live fetus with thick skin, abnormal facial features and amniotic fluid containing internal echoes. Based on these ultrasound features, the condition was diagnosed as harlequin ichthyosis. After genetic counselling, the couple opted to discontinue the pregnancy and underwent medical termination of pregnancy. The morphology of the phenotype confirmed the ultrasound imaging findings. Discussion: Harlequin ichthyosis is a rare and severe congenital ichthyosis of autosomal recessive origin. The condition is characterised by plate-like scales covering the entire body, typical facial features such as ectropion, eclabium, flat nose, fixed flexion deformities of the extremities and amniotic fluid with internal echoes. Ultrasound is the optimal first-line imaging modality for assessment of these features. The combined use of two-dimensional and three-dimensional ultrasound imaging aids in better depiction of the facial morphology. Detailed genetic evaluation is recommended to assess gene mutations and predict recurrence risk in subsequent pregnancies. Conclusion: While harlequin ichthyosis is rare, recognising the sonographic features early can help in genetic counselling and guide management, empowering obstetricians.
Purpose: Vascular malformations of the head and neck pose therapeutic challenges due to complex anatomy and proximity to critical structures. Percutaneous sclerotherapy guided by digital subtraction angiography is effective for low-flow malformations but involves radiation and iodinated contrast. Contrast-enhanced ultrasound offers a radiation-free alternative with real-time visualisation of intralesional contrast. Methods: We retrospectively analysed contrast-enhanced ultrasound-guided sclerotherapy procedures for head and neck malformations in children under 6 years performed since 2021, assessing feasibility, safety and clinical outcomes. Six interventions in six patients (44 days to 3.5 years) were included. Results: Contrast-enhanced ultrasound confirmed intralesional needle placement in all cases without evidence of extralesional contrast leakage. Sclerotherapy with Fibrovein or Aethoxysklerol was successfully performed in every procedure. No contrast-related adverse events occurred and all patients showed at least temporary clinical improvement. Conclusions: Contrast-enhanced ultrasound therefore appears feasible and safe for guiding sclerotherapy of venolymphatic malformations in the head and neck, enabling real-time verification without ionising radiation or iodinated contrast. The technique may be particularly valuable in paediatric patients requiring repeated interventions.
Introduction:Thyroid nodules affect more than 60% of the population, approximately 5% being malignant. The British Thyroid Association U-classification guides ultrasound risk stratification across the United Kingdom but is subject to inter-observer variability. Artificial intelligence decision support tools may offer more standardised assessment, yet no peer-reviewed study has validated S-Detect, a computer-aided diagnosis tool integrated into Samsung ultrasound systems, against the British Thyroid Association framework. This study compares S-Detect with experienced ultrasound operators using histology as the reference standard. Methods:This retrospective pilot diagnostic accuracy study assessed 32 thyroid nodules (September 2023 to August 2024). S-Detect served as the index test applied retrospectively on a Samsung RS85 Prestige platform; prospectively assigned U-scores were the comparator and surgical histology the reference standard. A secondary analysis varied Doppler input across all four options in the 11 malignancies misclassified by S-Detect to test whether Doppler selection contributed to misclassification. Results:Operators achieved superior balanced performance (sensitivity: 78.9%, specificity: 84.6%, accuracy: 81.3%, and area under the curve: 0.870) compared with S-Detect (42.1%, 100%, 65.6%, area under the curve: 0.729), which under-classified 58% of malignancies. Inter-method agreement was slight (κ = 0.175), with significant directional discordance (McNemar p = 0.008). Doppler manipulation produced substantial variability: 81.8% of misclassified cases showed U-score change attributable solely to Doppler selection, with peripheral patterns yielding zero correct malignancy classifications. Conclusion:Operators achieved superior diagnostic performance. S-Detect's high false-negative rate appears largely driven by over-reliance on Doppler. Its clinical utility is limited within this single-centre study. Future iterations excluding Doppler would likely achieve substantially improved sensitivity.
Papillary endothelial hyperplasia, or Masson's tumour, is a benign, reactive endothelial proliferation classified as intravascular, mixed or extravascular, with the extravascular subtype arising as a reactive process at a site of vascular injury. Genitourinary presentations are rare and predominantly intravascular; extravascular disease at the penoscrotal junction is exceptionally rare and can mimic soft-tissue sarcoma due to its hypervascular, avidly enhancing appearance. We report a case of penoscrotal extravascular papillary endothelial hyperplasia and describe, to our knowledge, the first documented contrast-enhanced ultrasound features of this entity. A man in his sixties presented with a 4-week history of a small, non-tender lump at the left penoscrotal junction, with no reported history of local trauma. Grey-scale ultrasound demonstrated a well-defined, hypoechoic lesion abutting the tunica albuginea, with internal vascularity on colour Doppler. Contrast-enhanced ultrasound showed marked hypervascularity with rapid, avid, and persisting enhancement during the arterial and late venous phases, together with a large, serpiginous vein in close proximity to the lesion and appearing mildly compressed by the mass - a distinctive vascular morphology not previously described in papillary endothelial hyperplasia at any site. Magnetic resonance imaging confirmed a well-defined, uniformly enhancing nodule, with an adjacent peripheral vessel of indeterminate arterial or venous nature. Given residual diagnostic uncertainty, staging computed tomography excluded metastatic disease before surgical excision. Histopathology confirmed extravascular papillary endothelial hyperplasia, most likely reactive, possibly arising at a site of previously unrecognised local trauma. This case highlights a novel contrast-enhanced ultrasound appearance in extravascular papillary endothelial hyperplasia that may aid diagnostic confidence and support multimodality triage of indeterminate penoscrotal masses.
Aims:Musculoskeletal ultrasonography is an accessible imaging modality with potential utility in knee osteoarthritis. This study aims to compare the sonographic features of knee osteoarthritis with standing radiographic grading and to assess the association with pain severity. Methods:In this cross-sectional study, patients with knee osteoarthritis underwent knee ultrasonography and standing anteroposterior and lateral radiographs. Radiographs were independently assessed by a blinded reviewer and graded using the Kellgren-Lawrence system. Kellgren-Lawrence grades 1-2 were classified as mild osteoarthritis and grades 3-4 as moderate to severe osteoarthritis. Sonographic findings were compared with radiographic grades, and the association with pain severity measured by the visual analogue scale (VAS) was evaluated. Results:Sonographic measurements of medial femoral osteophytes, suprapatellar effusion, Baker's cyst, and medial meniscal protrusion significantly correlated to radiographic osteoarthritis severity (p ⩽ 0.05). A composite score derived from these four variables demonstrated acceptable diagnostic performance (Youden index: 0.61). This composite score significantly correlated to VAS pain scores (p = 0.003), whereas VAS was not significantly associated with the Kellgren-Lawrence grade. Conclusion:Ultrasonography may serve as a valuable adjunct or alternative to plain radiography for estimating knee osteoarthritis severity and its clinical impact. Further well-designed studies are warranted to confirm these findings.
