Hereditary gingival fibromatosis (HGF) is characterized by the slowly progressive fibrous enlargement of gingival tissue. It usually develops as an isolated disorder but can also be one feature of various syndromes. The currently preferred terminology of these syndromes mainly describes the clinical features of the disorder without identifying the cause. In this report, we present the 5-year follow up of a family with HGF and features of 3 previously described syndromes: Jones syndrome, Zimmerman-Laband syndrome, and HGF-hypertrichosis syndrome. The 45-year-old father had HGF, hypertrichosis, hearing loss, and short stubby fingers and toes with hypoplasia of the terminal phalanges and hypoplasia of the nails on the thumbs. The features of 13-year-old son were almost identical to those of his father except for hypertrichosis, but in addition he was mentally retarded. Although the 10-day-old son had HGF and defective fingers, the mother and 7-year-old daughter were unaffected. Owing to the overlap of these syndromes, we argue that the identification of the genetic pathways and mechanisms will be the most important factor in classifying these disorders, with the phenotype playing a minor role.
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http://dx.doi.org/10.1016/j.tripleo.2006.02.021 | DOI Listing |
Pain Rep
February 2025
Pain Research Institute, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, United Kingdom.
Introduction: Pain phenomenology in patients with fibromyalgia syndrome (FMS) shows considerable overlap with neuropathic pain. Altered neural processing leading to symptoms of neuropathic pain can occur at the level of the spinal cord, and 1 potential mechanism is spinal disinhibition. A biomarker of spinal disinhibition is impaired H-reflex rate-dependent depression (HRDD).
View Article and Find Full Text PDFInt J Surg Case Rep
December 2024
Department of Pediatric Surgery, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Introduction: Achalasia, a rare esophageal disorder with an annual incidence of 0.11 per 100,000 in children, is characterized by impaired lower esophageal sphincter (LES) relaxation and peristalsis. Infantile cases are extremely uncommon and often linked to genetic conditions like Allgrove and Down syndrome.
View Article and Find Full Text PDFVestn Oftalmol
December 2024
Krasnov Research Institute of Eye Diseases, Moscow, Russia.
Peripapillary pachychoroid syndrome (PPS) is a recently described condition, classified within the pachychoroid disease spectrum characterized by focal or diffuse thickening of the choroid due to dilation of choroidal vessels in the Haller's layer (pachyvessels), thinning of the choriocapillaris and the Sattler's layer, and accompanied by increased choroidal permeability and damage to the retinal pigment epithelium. Unlike other pachychoroid diseases that involve changes in the central retina, PPS presents with choroidal thickening and intra- or subretinal fluid located nasally in the macular region, near the optic disc. This review aims to summarize and analyze current data on the clinical features, pathogenesis, and treatment options for PPS found in the literature.
View Article and Find Full Text PDFGen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
Cell Mol Neurobiol
December 2024
Department of Neurosurgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
It is difficult to distinguish Parkinson's disease (PD) in the early stage from those of various disorders including atypical Parkinson's syndrome (APS), vascular parkinsonism (VP), and even essential tremor (ET), because of the overlap of symptoms. Other, more challenging problems will arise when Parkinson's disease develops into Parkinson's disease dementia (PDD) in the middle and late stages. At this time, the differential diagnosis of PDD and DLB becomes thorny.
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