Oral health status of a patient with hypomelanosis of Ito: a case report

Relevance. The etiology of hypomelanosis of Ito is associated with dysfunction of neural crest cells. Therefore, this genetic disorder may be directly associated with craniofacial skeletal and dental anomalies. Early diagnosis and timely initiation of treatment are crucial for effective management of the condition. Clinical case description. This article presents a clinical case describing the oral manifestations of hypomelanosis of Ito in an 8.5-year-old child. The patient was referred to the clinic of Kuban State Medical University, Ministry of Health of the Russian Federation, with complaints of extensive crown defects in both primary and permanent molars, abnormal morphology of anterior teeth, and congenital absence of several teeth. The diagnosis of hypomelanosis of Ito was established by medical geneticists based on a constellation of clinical features. The patient had previously received dental care. A comprehensive treatment plan was developed, including oral rehabilitation and orthodontic management. Conclusion. Owing to the rarity of this genetic neurocutaneous syndrome, only a limited number of cases have been documented in the literature, with oral manifestations reported in isolated instances. The diagnostic complexity associated with such conditions highlights the importance of a comprehensive evaluation of craniofacial and dental features as part of the clinical assessment.

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Publication Details

Journal
Pediatric dentistry and dental prophylaxis
Published
2025-04-08
DOI
https://doi.org/10.33925/1683-3031-2025-865
Primary Topic
Genetic and rare skin diseases.
Type
article
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article

Oral health status of a patient with hypomelanosis of Ito: a case report

A. V. Burdina, Н.А. Евдокимова, K. K. Gasparyan, В.В. Волобуев et al.
Pediatric dentistry and dental prophylaxis
Genetic and rare skin diseases.
article

Oral health status of a patient with hypomelanosis of Ito: a case report

A. V. Burdina, Н.А. Евдокимова, K. K. Gasparyan, В.В. Волобуев, M. N. Mitropanova, A. R. Gazarova, O. A. Pavlovskaya, Lyudmila Tereschenko
article en

Abstract

Relevance. The etiology of hypomelanosis of Ito is associated with dysfunction of neural crest cells. Therefore, this genetic disorder may be directly associated with craniofacial skeletal and dental anomalies. Early diagnosis and timely initiation of treatment are crucial for effective management of the condition. Clinical case description. This article presents a clinical case describing the oral manifestations of hypomelanosis of Ito in an 8.5-year-old child. The patient was referred to the clinic of Kuban State Medical University, Ministry of Health of the Russian Federation, with complaints of extensive crown defects in both primary and permanent molars, abnormal morphology of anterior teeth, and congenital absence of several teeth. The diagnosis of hypomelanosis of Ito was established by medical geneticists based on a constellation of clinical features. The patient had previously received dental care. A comprehensive treatment plan was developed, including oral rehabilitation and orthodontic management. Conclusion. Owing to the rarity of this genetic neurocutaneous syndrome, only a limited number of cases have been documented in the literature, with oral manifestations reported in isolated instances. The diagnostic complexity associated with such conditions highlights the importance of a comprehensive evaluation of craniofacial and dental features as part of the clinical assessment.

Pediatric dentistry and dental prophylaxisVol. 23(3)
Kuban State Medical University (RU)
Openalex Percentile: Top 92%
Genetic and rare skin diseases.
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Oral health status of a patient with hypomelanosis of Ito: a case report — A. V. Burdina, Н.А. Евдокимова, et al. · Pediatric dentistry and dental prophylaxis (2025) | TGRS Research Map | TGRS