Pachyonychia congenita with an unusual intraoral manifestation: case report

Authors

  • Éder Gerardo Santos-Leite Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba, Departamento de Diagnóstico Oral – Piracicaba (SP), Brazil. https://orcid.org/0000-0002-8642-3834
  • Adrian Eduardo Ramírez Sánchez Universidade Autónoma de Coahuila – Saltillo, México.
  • José Luis Buentello de la Cruz Universidade Autónoma de Coahuila – Saltillo, México.
  • Hélen Kaline Farias Bezerra Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba, Departamento de Diagnóstico Oral – Piracicaba (SP), Brazil. https://orcid.org/0000-0002-5236-8988
  • Ricardo Martínez Pedraza Universidad Autónoma de Nuevo León, Facultad de Odontología – Nuevo León, México. https://orcid.org/0000-0003-0046-0026
  • Hercílio Martelli-Júnior Universidade de José Rosário Vellano, Faculdade de Odontologia, Centro de Reabilitação de Anomalias Craniofaciais – Alfenas (MG), Brazil. https://orcid.org/0000-0001-9691-2802

DOI:

https://doi.org/10.5327/2525-5711.264

Keywords:

Pachyonychia congenita, Skin diseases, Genetic, Leukokeratoses, oral, Oral Medicine, Case report

Abstract

Pachyonychia congenita (PC) is a rare dermatosis impacting skin structures, appendages, and mucous membranes, primarily characterized by nail dystrophy, palmoplantar keratoderma, and plantar pain. Oral manifestation are particularly natal teeth and oral leukokeratosis and may be the earliest clinical signs. There is no specific treatment, the protocols are individualized and aim to alleviate symptoms. A 5-year-old boy came to the dentist's office complaining of a toothache. Intraoral examination revealed diffuse lesions scattered in the hard palate, marginal gingiva, alveolar mucosa, and tongue. Additionally, white plaques were observed on the lips at the boundary between the perilabial skin and the vermilion of the lip. Extraoral examination identified palmar lesions, skin lesions on the elbows and knees, as well as nail thickening and absence on the fingers and toes. Incisional biopsies of the lesion on the palate and on the belly of the tongue were performed and histopathological examination showed subepithelial clefts, dyskeratotic areas, hyperkeratosis, and acanthosis. Based on clinical and microscopic features, the diagnosis of PC (OMIM #167200) was established. Despite the typical skin alterations, the intraoral lesions shown in this case are atypical and uncommon. This case describes a young patient with typical skin and nail alterations and atypical and uncommon intraoral lesions related to PC and emphasizes the significant role of dentists in diagnosing syndromic conditions affecting the mouth.

References

Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Pachyonychia congenita in pediatric patients natural history, features, and impact. JAMA Dermatology. 2014;150(2):146-53. https://doi.org/10.1001/jamadermatol.2013.6448

Zieman AG, Coulombe PA. Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insight into skin epithelial homeostasis and avenues for treatment. Br J Dermatol. 2020;182(3):564-73. https://doi.org/10.1111/bjd.18033

Smith FJD, Hansen CD, Hull PR, Kaspar RL, Irwin McLean WH, O’Toole E, et al. Pachyonychia congenita. In: Gene Reviews. Seattle: University of Washington; 1993. PMID: 20301457.

Mccarthy RL, Brito M, O’Toole E. Pachyonychia congenita: clinical features and future treatments. Keio J Med. 2023. https://doi.org/10.2302/kjm.2023-0012-IR

Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012;67(4):680-6. https://doi.org/10.1016/j.jaad.2011.12.009

Rathore PK, Khullar V, Das A. Pachyonychia congenita type 1: case report and review of the literature. Indian J Dermatol. 2016;61(2):196-9. https://doi.org/10.4103/0019-5154.177761

Agarwal P, Chhaperwal M, Singh A, Verma A, Nijhawan M, Singh K, et al. Pachyonychia congenita: a rare genodermatosis. Indian Dermatol Online J. 2013;4(3):225-7. https://doi.org/10.4103/2229-5178.115527

Daroach M, Dogra S, Bhattacharjee R, Afra T, Smith F, Mahajan R. Pachyonychia congenita responding favorably to a combination of surgical and medical therapies. Dermatol Ther. 2019;32(5):e13045. https://doi.org/10.1111/dth.13045

Cantile T, Coppola N, Caponio VCA, Russo D, Bucci P, Spagnuolo G, et al. Oral mucosa and nails in genodermatoses: a diagnostic challenge. J Clin Med. 2021;10(22):5404. https://doi.org/10.3390/jcm10225404

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJD, Irwin McLean WH, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10(1):3-17. https://doi.org/10.1111/j.1087-0024.2005.10202.x

Heliotis I, Whatling R, Desai S, Visavadia M. Primary herpetic gingivostomatitis in children. BMJ. 2021;375:e065540. https://doi.org/10.1136/bmj-2021-065540

AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges. 2020;18(9):943-67. https://doi.org/10.1111/ddg.14268

Savage SA. Dyskeratosis congenita and telomere biology disorders. Hematology Am Soc Hematol Educ Program. 2022;2022(1):637-48. https://doi.org/10.1182/hema tol ogy.2022000394

Duverger O, Carlson JC, Karacz CM, Schwartz ME, Cross MA, Marazita ML, et al. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay. PLoS Genet. 2018;14(1):e1007168. https://doi.org/10.1371/journal.pgen.1007168

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Published

2024-10-18

How to Cite

1.
Santos-Leite Éder G, Ramírez Sánchez AE, Buentello de la Cruz JL, Farias Bezerra HK, Martínez Pedraza R, Martelli-Júnior H. Pachyonychia congenita with an unusual intraoral manifestation: case report. J Oral Diagn [Internet]. 2024 Oct. 18 [cited 2025 Jan. 23];9. Available from: https://joraldiagnosis.com/revista/article/view/264

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Case Report