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Hyalinosis cutis et mucosae: gingival involvement

E Bazopoulou-Kyrkanidou1, K I Tosios, G Zabelis

  • 1Division of Oral Pathology, Faculty of Dentistry, University of Athens, Greece.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
|July 31, 1998
PubMed
Summary

Hyalinosis cutis et mucosae, a rare genetic disorder, causes hyaline material buildup in tissues. This case highlights gingival hyperplasia as a key oral manifestation in an adult patient.

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Area of Science:

  • Genetics
  • Dermatology
  • Oral Medicine

Background:

  • Hyalinosis cutis et mucosae (lipoid proteinosis, Urbach-Wiethe disease) is a rare autosomal recessive disorder.
  • Characterized by hyaline-like substance deposition in skin, submucosa, and organs.
  • Oral manifestations include nodular, thickened mucosa, affecting lips, cheeks, palate, and tongue.

Observation:

  • A 66-year-old male patient with hyalinosis cutis et mucosae presented with significant gingival hyperplasia.
  • The hyperplasia was attributed to diffuse deposition of hyaline-like material within the gingival tissues.
  • Clinical features were compared to the same patient's presentation at age 38.

Findings:

  • Microscopic examination of gingival tissues revealed characteristic hyaline deposition.

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  • Gingival hyperplasia is a notable, albeit less commonly reported, oral manifestation of hyalinosis cutis et mucosae.
  • Longitudinal observation demonstrated disease progression and persistent oral symptoms.
  • Implications:

    • Highlights the importance of considering rare genetic disorders in differential diagnosis of gingival hyperplasia.
    • Emphasizes the diagnostic value of microscopic analysis of gingival biopsies in suspected cases.
    • Provides insights into the long-term clinical course and oral manifestations of hyalinosis cutis et mucosae.