Hypertrichosis associated with genetic conditions with head and neck alterations

Auteurs-es

  • 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

Mots-clés :

Craniofacial Abnormalities, Dermatology, Genetic Disorders, Hirsutism, Hypertrichosis

Résumé

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.

Références

Congenital generalized hypertrichosis: The skin as a clue to complex malformation syndromes. Pavone P, Praticò AD, Falsaperla R et al. Ital J Pediatr. 2015; 41:1-8.

Single case localized hypertrichosis with traumatic panniculitis: a case report and literature review. Ploydaeng M, Rojhirunsakool S, Suchonwanit P. Case Rep Dermatol 2019; 11:180-186. PMID: 31320866

First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. Hayashi R, Yoshida K, Abe R, Niizeki H, Shimomura Y. J Dermatol Sci. 2017; 85:63-65. PMID: 27780627

Hypertrichosis. Wendelin DS, Pope DN, Mallory SB. J Am Acad Dermatol. 2003; 48:161-182. PMID: 12582385

Hypertrichosis. Saleh Dahlia, Yarrarapu Siva Naga S, Cook Christopher. StatPearls. 2020; Jul 08.

Endocrinology of hirsutism: from androgens to androgen excess disorders. Yilmaz B, Yildiz BO. Front Horm Res. 2019; 53:108-119. PMID: 31499500

Etiological diagnosis of hirsutism and implications for the treatment. Spritzer PM. Rev bras ginecol Obs. 2009; 31:41-47. PMID: 19347228

Hirsutism. Hafsi W, Badri T. StatPearls. 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470417/.

The involvement of androgens in human hair growth. Alwaleedi SA. Am J Biomed Sci. 2015; 7:105-124.

Physiology, Hair. Hoover E, Krishnamurthy K. StatPearls Publishing. 2018. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29763123.

The human hair: from anatomy to physiology. Buffoli B, Rinaldi F, Labanca M et al. Int J Dermatol. 2014; 53:331-341. PMID: 24372228

Promotion of anagen, increased hair density and reduction of hair fall in a clinical setting following identification of FGF5-inhibiting compounds via a novel 2-stage process. Burg D, Yamamoto M, Namekata M, Haklani J, Koike K, Halasz M. Clin Cosmet Investig Dermatol. 2017; 10:71-85. PMID: 28280377

Hypertrichose. Trüeb RM. Hautarzt. 2008; 59:325-338.

FOXN1 duplication and congenital hypertrichosis. Gilhooley E, Gormally S, Irvine A, Lynch SA, Collins S. Pediatr Dermatol. 2017; 34:77-79. PMID: 28297140

A rare male patient with Fontaine progeroid syndrome caused by the new p.R217H mutation in SLC25A24. Rodríguez-García ME, Cotrina-Vinagre FJ, Cruz-Rojo J et al. Am J Med Genet Part A. 2018; 176:2479-2486.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Sekiguchi F, Tsurusaki Y, Okamoto N et al. J Hum Genet. 2019; 64:1173-1186. PMID: 31530938

Wiedemann-Steiner syndrome in two patients from Portugal. Grangeia A, Leão M, Moura CP. Am J Med Genet Part A. 2020; 182:25-28. PMID: 31710778

Hypertrichose universelle congénitale. Maza A, Gaudy-Marqueste C, Collet-Vilette AM, Joubert F, Richard MA, Grob JJ. Ann Dermatol Venereol. 2009; 136:300-302. PMID: 19328322

A review of syndromes associated with blue sclera, with inclusion of malformations of the head and neck. Brooks JK. Oral Surg Oral Med Oral Pathol Oral Radiol. 2018; 126:252-263. PMID: 29980417

Cafe-au-lait spots as a clinical sign of syndromes. Carvalho AA, Martelli D, Barbosa G et al. Clinical Pediatrics. 2020; 07:1-23.

Cataract, hypertrichosis and mental retardation (CAHMR): a new autosomal recessive syndrome. Temtamy SA, Sinbawy AHH. Am. J. Med. Genet. 1991; 41:432-433. PMID: 1776632

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Aguilar Bryan L, Nichols CG, Wechsler SW et al. Science. 1995; 268:423-426. PMID: 7716547

Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome. Bauer CK, Calligari P, Radio FC et al. Am J Hum Genet. 2018; 103:621-630. PMID: 30290154

Congenital hypertrichosis lanuginosa. Beighton P. Arch Dermatol. 1970; 101:669-672. PMID: 5424483

Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Allikmets R, Gerrard B, Hutchinson A, Dean M. Hum Mol Genet. 1996; 5:1649-1655. PMID: 8894702

Hereditary gingival fibromatosis. Anderson J, Cunliffe WJ, Roberts DF, Close H. Br Med J. 1969; 3: 218-219. PMID: 5792612

Intellectual disability: when the hypertrichosis is a clue. Pezzani L, Milani D, Tadini G. J Pediatr Genet. 2015; 04:154–8. PMID: 27617126

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA. Dai C, Zeng S, Tan Z et al. Clin Genet. 2019; 96: 380-381. PMID: 31322726

Hirsutism. Mofid A, Seyyed Alinaghi SA, Zandieh S, Yazdani T. Int J Clin Pract. 2007; 62: 433–43. PMID: 18081798

Global view on rare diseases: a mini review. Blanca K, Michael S, Martin V, Kamil K. Curr Med Chem. 2017; 24: 3153- 3158. PMID: 28494745

Care for rare: spotlight on rare diseases. Mukherjee K. Trends Pharmacol Sci. 2019; 40: 227–8. PMID: 30905358

Rare Diseases Debated in the Senate. Anon. n.d.. Retrieved February 17, 2021. Available from: https://www.conass.org.br/doencas-raras-em-debate-no-senado/.

Dentinogenesis imperfecta: differential diagnosis and clinical treatment. Gomes MC. Porto. 2020. Available from: https://repositorio-aberto.up.pt/bitstream/10216/127966/2/409881.pdf

Hereditary gingival fibromatosis: identification and treatment. Serra MC, Falabella MEV, Tinoco EMB, Ribeiro MSM, Silva DG, Maior JMS. Rev. Cir. Traumatol. Buco-Maxillofac. v.7, n.3, p. 15 - 22. 2007. Available from: https://www.revistacirurgiabmf.com/2007/v7n3/2.pdf

Expanded gingival fibromatosis syndrome phenotype, mental retardation and hypertrichosis (Zimmermann-Laband). Chacon- Camacho OF, Vázquez J, Zenteno JC. Am J Med Genet A. 2011; 7: 1716-20. PMID: 21626675

Téléchargements

Publié-e

2022-06-14

Numéro

Vol. 10 No. 1 (2022)

Rubrique

Development of Craniofacial Structures

Licence

Authors who publish with this journal agree to the following terms:

  1. The Author retains copyright in the Work, where the term “Work” shall include all digital objects that may result in subsequent electronic publication or distribution.
  2. Upon acceptance of the Work, the author shall grant to the Publisher the right of first publication of the Work.
  3. The Author shall grant to the Publisher and its agents the nonexclusive perpetual right and license to publish, archive, and make accessible the Work in whole or in part in all forms of media now or hereafter known under a Creative Commons Attribution 4.0 International License or its equivalent, which, for the avoidance of doubt, allows others to copy, distribute, and transmit the Work under the following conditions:
    1. Attribution—other users must attribute the Work in the manner specified by the author as indicated on the journal Web site;
    with the understanding that the above condition can be waived with permission from the Author and that where the Work or any of its elements is in the public domain under applicable law, that status is in no way affected by the license.
  4. The Author is able to enter into separate, additional contractual arrangements for the nonexclusive distribution of the journal's published version of the Work (e.g., post it to an institutional repository or publish it in a book), as long as there is provided in the document an acknowledgement of its initial publication in this journal.
  5. Authors are permitted and encouraged to post online a prepublication manuscript (but not the Publisher’s final formatted PDF version of the Work) in institutional repositories or on their Websites prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work. Any such posting made before acceptance and publication of the Work shall be updated upon publication to include a reference to the Publisher-assigned DOI (Digital Object Identifier) and a link to the online abstract for the final published Work in the Journal.
  6. Upon Publisher’s request, the Author agrees to furnish promptly to Publisher, at the Author’s own expense, written evidence of the permissions, licenses, and consents for use of third-party material included within the Work, except as determined by Publisher to be covered by the principles of Fair Use.
  7. The Author represents and warrants that:
    1. the Work is the Author’s original work;
    2. the Author has not transferred, and will not transfer, exclusive rights in the Work to any third party;
    3. the Work is not pending review or under consideration by another publisher;
    4. the Work has not previously been published;
    5. the Work contains no misrepresentation or infringement of the Work or property of other authors or third parties; and
    6. the Work contains no libel, invasion of privacy, or other unlawful matter.
  8. The Author agrees to indemnify and hold Publisher harmless from Author’s breach of the representations and warranties contained in Paragraph 6 above, as well as any claim or proceeding relating to Publisher’s use and publication of any content contained in the Work, including third-party content.

Revised 7/16/2018. Revision Description: Removed outdated link.