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Journal of Medical Case Reports Apr 2022Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac...
BACKGROUND
Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital cardiac tumors are rhabdomyomas. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care.
CASE PRESENTATION
We report a 36-year-old African American pregnant women. At 32 weeks 5 days gestational age, the male fetus had a fetal echocardiogram due to fetal arrhythmia. The fetal echocardiogram showed two small echogenic, RV apex and septal masses, suspicious of rhabdomyomas. After a routine pregnancy and a normal spontaneous vaginal delivery (39 weeks 1 day), the male baby was admitted to the neonatal intensive care unit for further monitoring and postnatal evaluation.
CONCLUSIONS
Rhabdomyomas are extremely rare and unique tumors. These tumors are very dangerous, but they usually regress after birth. During the prenatal period, early cardiac tumor detection provides important information about fetal wellbeing, delivery planning, and necessary postnatal care. We present this case to share our findings with our pediatric colleagues. Although a rarely reported case, we hope this cardiac rhabdomyoma case report and literature review can increase cardiac tumor awareness.
Topics: Adult; Child; Female; Fetal Diseases; Heart Neoplasms; Humans; Infant; Infant, Newborn; Male; Pregnancy; Rhabdomyoma; Tuberous Sclerosis; Ultrasonography, Prenatal
PubMed: 35449076
DOI: 10.1186/s13256-022-03371-1 -
Ghana Medical Journal Mar 2022A tailgut cyst is a rare congenital lesion that develops from a residual posterior remnant of the intestine and presents as a mass in the presacral space. They are...
UNLABELLED
A tailgut cyst is a rare congenital lesion that develops from a residual posterior remnant of the intestine and presents as a mass in the presacral space. They are generally asymptomatic or have atypical symptoms, are usually benign but may rarely become malignant. We report a case of a 37-year-old female who initially presented to the Surgical Department of Korle Bu Teaching Hospital, Accra, Ghana with a malignant tailgut cyst after having repeated surgical procedures for recurrent perianal infective pathologies but still had persistence of symptoms. The lesion was initially excised and found to be a dermoid cyst histologically. The mass recurred after a year and had a re-excision; the lesion was diagnosed histologically as mucinous adenocarcinoma. This report emphasizes the different forms of presentation of a patient with a tailgut cyst and the possibility of malignant transformation, as well as the presentation of this tailgut cyst which can be diagnosed using radiological investigations and histological findings.
FUNDING
None.
Topics: Adenocarcinoma, Mucinous; Adult; Cysts; Female; Ghana; Hamartoma; Humans; Neoplasm Recurrence, Local
PubMed: 35919784
DOI: 10.4314/gmj.v56i1.8 -
The Indian Journal of Radiology &... 2017Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of...
Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical management.
PubMed: 28515578
DOI: 10.4103/0971-3026.202966 -
Cureus Oct 2022Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as...
Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a rare benign skin lesion that typically presents at birth, or within the first several years of life, as single or multiple asymptomatic skin-colored papules or nodules on the plantar heels. We present a classic case of PCFH in a 3-year-old child. This uncommon entity has no reported malignant features or malignant transformations. We demonstrate how this diagnosis can be made clinically without subjecting pediatric patients to potentially painful, traumatizing, costly skin biopsies and unnecessary imaging.
PubMed: 36426327
DOI: 10.7759/cureus.30611 -
Journal of Children's Orthopaedics Apr 2019Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union,...
UNLABELLED
Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union, correct the diaphyseal deformity, correct any proximal fibular migration and prevent refracture. The pathobiology demonstrates increased osteoclasis by the surrounding fibrous hamartoma and reduced osteogenesis and bone morphogenic protein production by the bone. This leads to a loss of remodelling potential and gradual bowing and atrophy of the bone with eventual fracture of the tibia and or fibula. This recommends the synergistic use of bisphosphonates and bone morphogenic protein. The pathomechanics of CPT implicate the anterolateral bowing, narrow diameter of the atrophic bone ends and proximal fibular migration. These biomechanical factors can be addressed by means of straightening of the deformity, intramedullary support of both bones, stable fixation and reduction of proximal migration of the fibula. A summary of the literature on CPT shows that the mean probability of achieving primary union without refracture, by most treatments is 50% (12% to 80%). Two recent studies have shown a much higher success rate approaching 100%, by creating a cross-union between the tibia and fibula. The cross-union with intramedullary reinforcement of the bone makes refracture unlikely due to the cross-sectional area of union with its two-bar linkage. A new classification to guide such treatment is also proposed.
LEVEL OF EVIDENCE
V - expert opinion.
PubMed: 30996736
DOI: 10.1302/1863-2548.13.180147 -
Scientific Reports Mar 2021In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a...
In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Disagreements were resolved by consensus. Differences between variables were analyzed via parametric and nonparametric tests based on the normality of the distribution. The cardiothoracic findings of Proteus syndrome were diverse, but several were much more common and included: scoliosis from bony overgrowth (94%), pulmonary venous dilation (62%), band-like areas of lung scarring (56%), and hyperlucent lung parenchyma (50%). In addition, of 20 individuals who underwent cardiac MRI, 9/20 (45%) had intramyocardial fat, mostly involving the endocardial surface of the left ventricular septal wall. There was no statistically significant difference among the functional cardiac parameters between individuals with and without intramyocardial fat. Only one individual with intramyocardial fat had mildly decreased function (LVEF = 53%), while all others had normal ejection fraction.
Topics: Adolescent; Adult; Child; Diagnostic Imaging; Female; Heart Defects, Congenital; Humans; Lung; Magnetic Resonance Imaging; Male; Mediastinum; Middle Aged; Proteus Syndrome; Thoracic Wall; Thorax; Tomography, X-Ray Computed; Young Adult
PubMed: 33753828
DOI: 10.1038/s41598-021-86029-0 -
BMC Medicine Apr 2022Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardiac tumour (rhabdomyoma), neurodevelopmental disorders (NDDs) and kidney disorders (KD) are common manifestations of TSC and have been linked with TSC1 and TSC2 loss-of-function mutations independently, but the dynamic relationship between these organ manifestations remains unexplored. Therefore, this study aims to characterise the nature of the relationship specifically between these three organs' manifestations in TSC1 and TSC2 mutation patients.
METHODS
Clinical data gathered from TSC patients across South Wales registered with Cardiff and Vale University Health Board (CAV UHB) between 1990 and 2020 were analysed retrospectively to evaluate abnormalities in the heart, brain and kidney development. TSC-related abnormalities such as tumour prevalence, location and size were analysed for each organ in addition to neuropsychiatric involvement and were compared between TSC1 and TSC2 mutant genotypes. Lastly, statistical co-occurrence between organ manifestations co-morbidity was quantified, and trajectories of disease progression throughout organs were modelled.
RESULTS
This study found a significantly greater mutational frequency at the TSC2 locus in the cohort in comparison to TSC1. An equal proportion of male and female patients were observed in this group and by meta-analysis of previous studies. No significant difference in characterisation of heart involvement was observed between TSC1 and TSC2 patients. Brain involvement was seen with increased severity in TSC2 patients, characterised by a greater prevalence of cortical tubers and communication disorders. Renal pathology was further enhanced in TSC2 patients, marked by increased bilateral angiomyolipoma prevalence. Furthermore, co-occurrence of NDDs and KDs was the most positively correlated out of investigated manifestations, regardless of genotype. Analysis of disease trajectories revealed a more diverse clinical outcome for TSC2 patients: however, a chronological association of rhabdomyoma, NDD and KD was most frequently observed for TSC1 patients.
CONCLUSIONS
This study marks the first empirical investigation of the co-morbidity between congenital heart defects (CHD), NDDs, and KDs in TSC1 and TSC2 patients. This remains a unique first step towards the characterisation of the dynamic role between genetics, heart function, brain function and kidney function during the early development in the context of TSC.
Topics: DNA Mutational Analysis; Female; Humans; Male; Mutation; Retrospective Studies; Rhabdomyoma; Tuberous Sclerosis; Tuberous Sclerosis Complex 1 Protein; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 35440050
DOI: 10.1186/s12916-022-02325-0 -
Anais Brasileiros de Dermatologia 2022Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology... (Review)
Review
BACKGROUND
Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes.
OBJECTIVE
To describe the clinical manifestation of nevus sebaceous, as well as the main management techniques addressed in the medical literature. Moreover, the present study discusses a case report of a congenital linear nevus in the left retroauricular region found in a male patient, without extracutaneous manifestations.
METHOD
A narrative review of the literature was carried out.
DISCUSSION
Nevus sebaceous occurs as lesions with a linear or oval appearance, with a smooth or verrucous texture, generally alopecic and with very variable color. Moreover, nevus sebaceous is one of the components of the so-called linear nevus syndrome or Schimmelpenning-Feuerstein-Mims syndrome, which is associated with multisystemic complications. The treatment of the lesions is still controversial; however, most experts indicate surgical excision as the most frequently adopted treatment method, in addition to multidisciplinary follow-up when the diagnosis of Schimmelpenning-Feuerstein-Mims syndrome is established.
CONCLUSION
The linear nevus syndrome constitutes a rare manifestation; however, its diagnosis should be considered in children born with nevus sebaceous. There is no consensus yet on the best therapy, but surgical removal has shown to be a viable option.
Topics: Child; Hamartoma; Humans; Male; Nevus; Nevus, Pigmented; Nevus, Sebaceous of Jadassohn; Skin Neoplasms; Syndrome
PubMed: 35863943
DOI: 10.1016/j.abd.2021.11.001 -
Head and Neck Pathology Jun 2022The term 'choristoma' refers to normal appearing tissue in an abnormal location. We describe a case of choristoma with gastric epithelium of the dorsal tongue in a...
The term 'choristoma' refers to normal appearing tissue in an abnormal location. We describe a case of choristoma with gastric epithelium of the dorsal tongue in a pediatric patient. Lingual choristomas are uncommon cystic or solid lesions which may demonstrate different types of tissue (e.g. gastric epithelium, respiratory epithelium, osseous and neuroglial tissue) histologically. Choristomas with gastric epithelium, also known as heterotropic gastric mucosa or foregut duplication cysts, are thought to arise from pluripotential cells of the embryonic foregut. They most frequently involve the anterior two-thirds of the tongue. Most patients are asymptomatic, but larger lesions may lead to feeding and breathing difficulties. Pathologic evaluation and surgical excision remain the mainstay of diagnosis and treatment, respectively. The pathologic characteristics of other congenital tongue lesions are also discussed.
Topics: Child; Choristoma; Cysts; Epithelium; Gastric Mucosa; Humans; Tongue; Tongue Diseases
PubMed: 34259980
DOI: 10.1007/s12105-021-01362-0 -
Mutagenesis Jul 2020Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the context of... (Review)
Review
Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the context of familial aggregation of this disease, suggesting a strong genetic component. Currently, only less than half of the heritability of CRC can be attributed to hereditary syndromes or common risk loci. Part of the missing heritability of this disease may be explained by the inheritance of elusive high-risk variants, polygenic inheritance, somatic mosaicism, as well as shared environmental factors, among others. A great deal of the missing heritability in CRC is expected to be addressed in the coming years with the increased application of cutting-edge next-generation sequencing technologies, routine multigene panel testing and tumour-focussed germline predisposition screening approaches. On the other hand, it will be important to define the contribution of environmental factors to familial aggregation of CRC incidence. This review provides an overview of the known genetic causes of familial CRC and aims at providing clues that explain the missing heritability of this disease.
Topics: Adenomatous Polyposis Coli; Colorectal Neoplasms; Databases, Genetic; Early Detection of Cancer; Epigenesis, Genetic; Genetic Loci; Genetic Predisposition to Disease; Germ-Line Mutation; Hamartoma Syndrome, Multiple; High-Throughput Nucleotide Sequencing; Humans; Incidence; Risk Factors; Wills
PubMed: 31605533
DOI: 10.1093/mutage/gez027