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1.
Case Rep Dent ; 2024: 2278083, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39104910

RESUMEN

Introduction: Self-inflicted gingival injuries typically occur in patients with psychological disorders and rarely in normal individuals. This article is aimed at reporting an unusual case of gingival recession caused by a fingernail-scratching habit. Case Report: A 5-year-old female patient presented to the Pediatric Dentistry Department at the Ibn Sina Center for Consultation and Dental Treatment in Rabat, Morocco, with complaints of gingival recession localized in her four maxillary primary incisors. After a detailed medical and personal history and clinical examination, the diagnosis of self-inflicted gingival injury was established. The treatment plan included oral hygiene instructions, the application of analgesic and antiseptic gel, and behavioral management. Regular follow-ups over a period of 16 months were crucial for monitoring the patient's progress, which eventually led to the cessation of the habit with no recurrence. Discussion: Self-inflicted oral injuries in pediatric patients pose diagnostic challenges. The development of such habits in psychologically normal children is difficult to explain, suggesting the need for a comprehensive approach. Managing self-inflicted injuries is complex and requires a personalized strategy that may include psychotherapy, family support, and regular monitoring. Conclusion: This case highlights the importance of taking a comprehensive history and adopting a multidisciplinary approach to diagnose and manage self-inflicted gingival injury, achieving positive outcomes.

2.
Cureus ; 16(7): e63984, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39105006

RESUMEN

Parry-Romberg syndrome is a rare acquired disorder characterized by unilateral idiopathic progressive atrophy of the skin and soft tissues of the face, resulting in a sunken appearance. The muscles, cartilage, and underlying bony structures may also be affected. The etiology remains unclear and is based on several hypotheses. The incoherence of atrophy and the development of associated symptoms make the diagnosis, prognosis, and management of patients difficult. Here, we report the case of a 10-year-old boy who presented to the Department of Pediatric Dentistry at the Mohamed V Military Training Hospital in Rabat with progressive left hemifacial atrophy and was diagnosed by a pediatric rheumatologist as having Parry-Romberg syndrome. On extraoral examination, the patient presented a slight facial asymmetry and a small, dark, linear scar in the left zygomatic region. Intraoral examination revealed a left lateral open bite and atrophy of the left side of the tongue. Panoramic radiography showed incomplete eruption of the left mandibular first and second premolars (34/35), with significant root atrophy giving a narrowed appearance to the corresponding pulp chambers confirmed on retro alveolar radiographs. The mandible had a slightly reduced ramus height on the affected side confirming the patient's facial asymmetry. A better understanding of this syndrome will help to improve oral care in young patients.

3.
Tunis Med ; 100(1): 9-12, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35822326

RESUMEN

Human immunodeficiency virus (HIV) infection is a disease described as having significant and frequent oral manifestations with an early onset character. Which could be a very interesting diagnostic clue. The odonto-stomatologist is therefore in the front line to detect the immunodeficiency caused by this pathology, even though the patient may be unaware of his condition or the aggravation of it, as was the case with our patient.


Asunto(s)
Infecciones por VIH , Niño , Infecciones por VIH/complicaciones , Infecciones por VIH/diagnóstico , Humanos
4.
Am J Hum Genet ; 97(4): 535-45, 2015 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-26387595

RESUMEN

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them. Loss-of-function mutations in both genes are known causes of a spectrum of autosomal-recessive peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome. PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial, and liver abnormalities. We demonstrate that each HS-affected family has at least one hypomorphic allele that results in extremely mild peroxisomal dysfunction. Although individuals with HS share some subtle clinical features found in PBDs, the diagnosis was not suggested by routine blood and skin fibroblast analyses used to detect PBDs. In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.


Asunto(s)
Adenosina Trifosfatasas/genética , Amelogénesis Imperfecta/genética , Fibroblastos/patología , Pérdida Auditiva Sensorineural/genética , Proteínas de la Membrana/genética , Mutación/genética , Uñas Malformadas/genética , Peroxisomas/patología , ATPasas Asociadas con Actividades Celulares Diversas , Adolescente , Adulto , Estudios de Casos y Controles , Células Cultivadas , Niño , Preescolar , Femenino , Fibroblastos/metabolismo , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Linaje , Peroxisomas/metabolismo , Fenotipo , Pronóstico , Tasa de Supervivencia , Adulto Joven
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