- Mucocutaneous Manifestations in Patients with Chronic Kidney Disease: A Cross-sectional Study. [Journal Article]
- IDIndian Dermatol Online J 2018 Jan-Feb; 9(1):20-26
- CONCLUSIONS: Xerosis, pruritus, skin pallor/pigmentary changes, nail pallor, absent lunula, nail discoloration, sparse hairs, coated tongue, xerostomia, macroglossia, and infections were the most common mucocutaneous manifestations in the studied patients irrespective of hemodialysis status. Cold and dry climates might be additional aggravators for xerosis/pruritus. Lifelong follow-up may be needed to reduce the morbidity associated with CKD/hemodialysis specific dermatoses appearing over a period.
- National trends in tongue reduction surgery for macroglossia in children. [Journal Article]
- JCJ Craniomaxillofac Surg 2018 Jan 04
- CONCLUSIONS: Partial glossectomy for macroglossia is typically performed prior to age 2 in the United States. A higher rate of intervention is seen in white children, those who have surgery in the mid-west and affluent children even when controlling for confounding variables.
- Infantile-onset Pompe disease with neonatal debut: A case report and literature review. [Case Reports]
- MMedicine (Baltimore) 2017; 96(51):e9186
- CONCLUSIONS: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots.
- Case report: One case of primary AL amyloidosis repeatedly misdiagnosed as scleroderma. [Journal Article]
- MMedicine (Baltimore) 2017; 96(50):e8771
- CONCLUSIONS: A diagnosis of primary AL amyloidosis was established.
- Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. [Review]
- NRNat Rev Endocrinol 2018 Jan 29
- Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypogl...
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
- Unusual complications caused by lipoma of the tongue. [Journal Article]
- JKJ Korean Assoc Oral Maxillofac Surg 2017; 43(Suppl 1):S6-S8
- Lipoma is the most common, benign, soft tissue, mesenchymal tumour and is composed of mature adipose tissue. It is infrequent in the oral cavity (approximately 0.3% of all tongue neoplasias). We desc...
Lipoma is the most common, benign, soft tissue, mesenchymal tumour and is composed of mature adipose tissue. It is infrequent in the oral cavity (approximately 0.3% of all tongue neoplasias). We describe the case of a 68-year-old man with a swelling at the tongue edge and tongue dysesthesia. Medical history, clinical assessment, radiographic images, and cytological analysis enabled specialists to classify this neoplasia as a lipoma. The patient recovered fully after surgical excision of the affected area, and the neuralgic symptoms regressed. Surgical excision is an elective treatment; however, accurate differential diagnosis, histological examination, and follow-up are required.
- [A woman with a painful and enlarged tongue]. [Journal Article]
- NTNed Tijdschr Geneeskd 2018; 162(0):D2119
- A 53-year-old woman presented with painful macroglossia and periorbital papules. Based on this clinical features and biopsies the diagnosis of nodular amyloidosis was established. Further analysis re...
A 53-year-old woman presented with painful macroglossia and periorbital papules. Based on this clinical features and biopsies the diagnosis of nodular amyloidosis was established. Further analysis revealed that multiple myeloma was the underlying hematological disorder.
- Angiotensin-converting Enzyme (ACE) Inhibitor Induced Macroglossia. [Journal Article]
- JAJ Assoc Physicians India 2017; 65(12):108
- Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report. [Journal Article]
- SCSpec Care Dentist 2018; 38(1):51-54
- We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HS...
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.
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- Severe macroglossia after posterior fossa and craniofacial surgery in children. [Journal Article]
- IJInt J Oral Maxillofac Surg 2018 Jan 01
- Massive swelling of the tongue can occur after posterior fossa and craniofacial surgery. Several hypotheses have been proposed to explain the occurrence of such severe postoperative macroglossia, but...
Massive swelling of the tongue can occur after posterior fossa and craniofacial surgery. Several hypotheses have been proposed to explain the occurrence of such severe postoperative macroglossia, but this phenomenon is still poorly understood. Severe postoperative macroglossia can be a life-threatening condition due to upper airway obstruction. Three cases of severe postoperative macroglossia that occurred after cervical spine, craniofacial, and posterior fossa surgical procedures are reported here. These cases required specialized maxillofacial management and a prolonged stay in the intensive care unit. Causal factors involved in this condition are reported, in order to highlight appropriate prevention and treatment options adapted to the management of paediatric patients. An overview of the current literature on severe postoperative macroglossia in paediatric populations is also provided.