Lingual congenital cysts are uncommon lesions that alter the functions of speech, swallowing and breathing when they have considerable dimension. They usually appear from birth and increase in size gradually in childhood and adolescence. While there are a considerable number of case reports, the nomenclature and origin of this lesion are controversial. Congenital lingual cysts are composed of an epithelial lining that can show heterogeneous histological features, such as globed, ciliated, squamous and parietal cells, while the wall presents mature connective tissue and eventually smooth muscle. In the present manuscript, we report a case of a congenital lingual cyst in a 13-year-old boy, as well as the immunoexpression of MUC family proteins (MUC-1 and MUC-5AC), hoping to provide data that will help to clarify the possible etiology of this lesion.
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http://dx.doi.org/10.1016/j.jormas.2017.07.001 | DOI Listing |
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFJ Clin Med
December 2024
The Department of Dentofacial Orthopaedics and Orthodontic, Wroclaw Medical University, 50-425 Wroclaw, Poland.
Ankyloglossia is a congenital, abnormally short, thickened, or tight lingual frenulum that restricts tongue mobility, which may impair the development of the lower face morphology, namely the occlusion and skeleton. The aim of this study was to evaluate whether and how the lingual frenotomy benefits the occlusion and lower face skeleton development. The authors, independently and in duplication, performed searches of PubMed, Cochrane Library, Medline, Web of Science, and Embase, introducing the following keywords: tongue tie, ankyloglossia, and short lingual frenum/frenulum, combined with malocclusion, lower face skeleton, and hyoid bone.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFJ Craniofac Surg
January 2025
Division of Plastic Surgery, Department of Surgery, Dalhousie University.
Introduction: Macroglossia is a frequent clinical feature of Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder. Macroglossia can lead to abnormal breathing, feeding, speech, and dentoskeletal development. Partial glossectomy is a common intervention aimed at reducing these abnormalities.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Institute of Diagnostic Radiology, Pauls Stradins Clinical University Hospital, LV-1002 Riga, Latvia.
Background/objectives: The muscular base of the oral cavity is formed of the mylohyoid muscle, which forms a sling inferior to the tongue. The muscle is often discontinuous, and defects may include salivary tissues, fat, and/or blood vessels. Hypertrophic sublingual glands located in mylohyoid defects can be herniated into bilateral submandibular spaces and present as palpable masses.
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