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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.
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.
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.
- 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.