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Pachyonychia congenita. Case report.

V Vucićević-Boras1, L Kotrulja, A Cekić-Arambasin

  • 1Department of Oral Medicine, School of Dental Medicine, University of Zagreb, Zagreb, Croatia. vvboras@hotmail.com

Minerva Stomatologica
|February 4, 2006
PubMed
Summary

Pachyonychia congenita, a rare genetic disorder, was diagnosed in a 17-year-old female presenting with distinctive oral, nail, and skin lesions. This case highlights key clinical features for identifying this condition.

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Area of Science:

  • Dermatology
  • Oral Medicine
  • Genetics

Background:

  • Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by specific clinical manifestations.
  • It primarily affects the skin, nails, and oral mucosa, often presenting in infancy or early childhood.

Observation:

  • A 17-year-old female presented with white, hyperkeratotic tongue lesions and buccal mucosal plaques.
  • Dystrophic nail changes on hands and feet, along with bullous lesions on the soles, were also noted.

Findings:

  • Clinical and histological examinations confirmed the diagnosis of pachyonychia congenita.
  • The constellation of oral leukokeratosis, nail dystrophy, and plantar bullae is characteristic of PC.

Implications:

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  • Early and accurate diagnosis of pachyonychia congenita is crucial for appropriate patient management and genetic counseling.
  • Understanding the phenotypic variability is important for clinicians diagnosing rare genetic skin disorders.