Hypertrichosis associated with genetic conditions with head and neck alterations

Authors

  • Mirelle Estéfane de Oliveira Caixeta Centro Universitário de Patos de Minas- UNIPAM
  • Caroline Rodrigues Dias Centro Universitário de Patos de Minas- UNIPAM
  • Rafael Martins Afonso Pereira Centro Universitário de Patos de Minas- UNIPAM
  • Thiago de Amorim Carvalho Centro Universitário de Patos de Minas- UNIPAM
  • Ivania Aparecida Pimenta Santos Silva Centro Universitário de Patos de Minas- UNIPAM
  • Rodrigo Soares de Andrade Centro Universitário de Patos de Minas- UNIPAM

DOI:

https://doi.org/10.5195/d3000.2022.237

Keywords:

Craniofacial Abnormalities, Dermatology, Genetic Disorders, Hirsutism, Hypertrichosis

Abstract

INTRODUCTION: Hypertrichosis is a rare disorder in which there is an exaggerated growth of body hair in places that are not necessarily androgen-dependent, a particular feature of hirsutism. Its etiology is still questionable, with an increased incidence when associated with syndromes. This genetic association leads to numerous significant systemic and craniofacial changes, which should be recognized and considered by the dentist.

OBJECTIVE: To assess, in databases, the presence of congenital hypertrichosis associated with genetic syndromes and conditions affecting the head and neck.

METHODS: The search was conducted in PubMed-NCBI databases; genetic conditions along with their characteristics were available in Online Mendelian Inheritance in Man (OMIM) and in Protein®.

RESULTS: The analysis was performed on 63 articles and all diseases were considered as rare. In the syndromes, prevalence of autosomal dominant inheritance was observed in 48.64%, followed by autosomal recessive in 45.9%, 1 X-linked recessive case, and 1 arising from defective mitochondrial energy generation. Among the 63 genetic conditions, 44 showed neurodevelopmental changes. Besides the craniofacial involvement itself, there is a high prevalence of alterations of the oral structures involving 47 of all conditions, including mainly dental abnormalities, palatal and gingival changes.

CONCLUSION: The association of hypertrichosis with genetic components is strongly associated with major craniofacial changes. Therefore, the knowledge of the dental surgeon about the conditions that can affect the oral cavity is impressive because it is related to a correct treatment and better quality of life for the patient.

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Published

2022-06-14

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Section

Development of Craniofacial Structures