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Diagnostics (Basel, Switzerland) Nov 2023Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The...
Klippel-Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary-lymphatic-venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding a rare case of foetal Klippel-Trenaunay syndrome diagnosed prenatally in our department and confirmed postnatally with a favourable evolution during the gestation and neonatal periods. This case was diagnosed at 26 weeks gestation and characterised through ultrasound by the presence of superficial multiple cystic structures of different sizes spreading over the left leg with hemihypertrophy and reduced mobility. The cystic lesions were spreading to the left buttock and the pelvic area. The right leg and upper limbs had normal appearance with good mobility. There were no signs of hyperdynamic circulation or foetal anaemia, but mild polyhydramnios was associated. The ultrasound findings were confirmed postnatally, the left leg presented multiple cystic lesions and port wine stains, and there was hypertrophy and fixed position, with favourable evolution at 6 months of life, when the size of the lesions began to decrease and the mobility of the leg improved.
PubMed: 37998536
DOI: 10.3390/diagnostics13223400 -
Indian Journal of Dermatology 2023Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation....
Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disorders in which PM is one of the manifestations. We present a case of a 1-year-old child with a unique constellation of symptoms of unilateral syndactyly, hemihypertrophy, and skin hyperpigmentation. Karyotype from peripheral blood was normal. We found genetic aberration (mosaic 2q35 deletion) in the present case from fibroblast cultured from the affected area. This unique constellation of symptoms was previously reported once but genetic study was not done from the affected tissue. This case highlights the need of considering fibroblast culture-based genetic study rather than doing simple karyotype from peripheral blood. Genetic study also established the molecular basis of symptoms in the above case.
PubMed: 38099104
DOI: 10.4103/ijd.ijd_649_21 -
Translational Cancer Research Feb 2024Nephron sparing surgery (NSS) had become the main surgical treatment for bilateral nephroblastoma. But it remained a challenge for surgeons to balance the dilemma...
BACKGROUND
Nephron sparing surgery (NSS) had become the main surgical treatment for bilateral nephroblastoma. But it remained a challenge for surgeons to balance the dilemma between complete tumor resection to reduce tumor recurrence and renal parenchyma preservation to reduce end-stage renal disease (ESRD). In this study, we summarized our clinical experience for bilateral Wilms tumors managed in our center and evaluated the influence of different surgical approaches on prognosis.
METHODS
The clinical data of patients with bilateral Wilms tumor in our hospital from January 2010 to December 2020 were retrospectively analyzed, and the clinical symptoms, surgical approaches and prognosis of the disease were summarized.
RESULTS
We reviewed medical records of 16 patients, including 13 (81.3%) girls and 3 (18.7%) boys. The mean age of the patients was 17.88±11.65 months (range, 6-42 months). Five patients presented with hypertension and two presented with hemihypertrophy. Fifteen cases had synchronous tumors, while only one patient had metachronous bilateral lesions. Thirteen patients received neoadjuvant chemotherapy and only 8 kidneys (30.8%) responded to chemotherapy. Two patients gave up surgery, and the other fourteen patients underwent radical resection, of which 2 patients only underwent unilateral radical nephrectomy (RN); 7 and 5 patients underwent single-stage and two-stage operation for bilateral lesions, respectively. In all surgical patients, RN was performed on 5 kidneys, and NSS was performed on 21 kidneys. The positive margins after NSS were found in 6 kidneys (35.3%). After a median follow-up period of 26.3 months, local tumor recurrence and renal insufficiency occurred in two and one patients. The 5-year overall and event-free survival rates were 78.1% and 58.6%, respectively. In univariable analysis, the survival rate in the initial chemotherapy group (92.3%) was significantly higher than that in the initial surgery group (33.3%) (P=0.048), whereas positive margin and staged operation (P>0.05) appeared not significantly associated with overall survival.
CONCLUSIONS
The proportion of tumor reduction after preoperative chemotherapy is relatively low for bilateral Wilms tumor, but preoperative chemotherapy could improve overall survival. NSS is recommended for bilateral Wilms tumor, and the customized procedure can be selected according to the location and anatomical features of tumor.
PubMed: 38482402
DOI: 10.21037/tcr-23-1428 -
Plastic and Reconstructive Surgery.... Oct 2023Hemihypertrophy is a rare congenital disorder that causes unequal growth of the extremities, trunk, face, or half of the body. We report a case of a 32-year-old woman...
Hemihypertrophy is a rare congenital disorder that causes unequal growth of the extremities, trunk, face, or half of the body. We report a case of a 32-year-old woman with hemihypertrophy-related gastrocnemius hypertrophy treated with botulinum toxin A injection. The patient has received two botulinum toxin A injections, and we measured the thickness of the gastrocnemius muscle using ultrasound and measured the maximum circumference around the calf with the patient in the prone position. The patient's maximum calf circumference was reduced by 1 cm. The thickness of the medial head of the gastrocnemius was reduced by 0.3 cm, and the thickness of the lateral head of the gastrocnemius was reduced by 0.6 cm. Botulinum toxin A injection therapy was effective in treating hemihypertrophy-related gastrocnemius hypertrophy.
PubMed: 37908327
DOI: 10.1097/GOX.0000000000005356 -
Clinical Case Reports Feb 2024Lipid hemihypertrophy should be considered in the differential diagnosis of neonatal asymmetry. Early recognition and further evaluation for associated disorders are...
KEY CLINICAL MESSAGE
Lipid hemihypertrophy should be considered in the differential diagnosis of neonatal asymmetry. Early recognition and further evaluation for associated disorders are important for appropriate management and surveillance of potential complications.
ABSTRACT
We present the case of a 5-day-old female neonate who presented with a visibly enlarged right thigh, right labia majora, and below the right mandible. This case report highlights the importance of early identification, comprehensive evaluation, and multidisciplinary management in neonates with lipid hemihypertrophy to optimize their long-term outcomes and quality of life.
PubMed: 38333663
DOI: 10.1002/ccr3.8476 -
Surgical Case Reports Mar 2024Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a...
BACKGROUND
Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression.
CASE PRESENTATION
A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected.
CONCLUSIONS
In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient.
PubMed: 38514513
DOI: 10.1186/s40792-024-01865-2 -
Children (Basel, Switzerland) Aug 2023Hemihyperplasia is a kind of regional body growth asymmetry and can be a symptom of several congenital disorders and tumorous conditions. Torticollis is most commonly...
Hemihyperplasia is a kind of regional body growth asymmetry and can be a symptom of several congenital disorders and tumorous conditions. Torticollis is most commonly caused by asymmetric hypertrophy of the sternocleidomastoid muscle. Herein, we report a case of hemihyperplasia in an infant with ipsilateral torticollis. The baby was evaluated using physical examination and ultrasonography. We observed significant right-side torticollis that was ipsilateral to congenital right-side hemihypertrophy. No abnormal tumorous conditions were found during the evaluation in the pediatrics department. The patient was treated with physical therapy and exhibited mild improvements in torticollis and hemihyperplasia.
PubMed: 37628351
DOI: 10.3390/children10081352 -
Radiology Case Reports Sep 2023Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection...
Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection for embryonal tumor growth, especially Wilms tumor (WT), and manifestations like lateralized overgrowth/hemihypertrophy, macroglossia, macrosomia, anterior abdominal wall defects, and hyperinsulinism. Our case is a 1 year of female child who presented with abdominal swelling and limb length discrepancies. A clinical diagnosis of BWS was made based on multifocal WT and hepatomegaly and nephromegaly detected on contrast-enhanced abdominal computed tomography and physical examination findings of lateralized overgrowth and umbilical hernia. A molecular genetic test was not available. The patient was started on preoperative chemotherapy with good tolerance. Clinical criteria can be used to diagnose WBS in a setting where confirmatory molecular testing is unavailable. This will considerably change approaches to management of presenting complications such as WT .
PubMed: 37520386
DOI: 10.1016/j.radcr.2023.06.025