PMC8594454_01
Pedigree of Chinese family with NHGF. Affected individuals are indicated by blackened symbols. Circles and squares denote female and male members respectively, and a slash through a symbol denotes a deceased individual. The proband is indicated by the arrow.
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All individuals were classified as affected or unaffected based on clinical features, family history, and histopathological manifestations, as described by Hart et al. ( Figure 1 ).
(A) 3D image of III-2; (B) Preoperative picture of maxilla from III-2; (C) Preoperative picture of mandible from III-2.
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Furthermore, we found that the alveolar bone of these patients was significantly thickened during the gingivectomy ( Figure 2 ).
Extra-oral images, intra-oral images and HE staining of gingival tissue of patients with NHGF. (A) II-1, 63 years old; (B) III-2, 35 years old; (C) IV-1, 5 years old; (D) HE staining of gingival tissue III-2(40x); (E) HE staining of gingival tissue III-2(200x).
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I-2 aged 91 years showed relatively fair oral hygiene and had pink enlarged gingiva with marked and abundant stippling covering almost the entire crown. II-1, the father of the proband aged 63 years, exhibited significant hyperplasia of the posterior dental area and had teeth that were partially or entirely engulfed by fibrotic tissue ( Figure 3A ). Marked, abundant stippling was observed in the intraoral image of the proband ( Figure 3B ). IV-1, son of the proband, who was 5 years old, exhibited extensive hyperplasia of the entire gingival margin, papilla, and attached gingiva of both the maxillary and mandibular dentition ( Figure 3C ). In addition, prominent deposition of collagen fibres underlying the gingival epithelium with acanthosis and extended long slender rete ridges were observed ( Figures 3D, E ), which is consistent with the histological characteristics of gingival fibromatosis.
Representative images showing expression of hBD-2 and hBD-3 in gingival tissue samples from the family (original magnification x100, x200, x400). (A-F): Gingival samples were stained with rabbit polyclonal IgG antibody to hBD-2 (1:300) using standard IHC protocol; Circled areas in (A) was amplified in (B) and (C); (D) was amplified in (E) and (F); (A-C) were derived from patient with NHGF; (D-F) were derived from a healthy control gingival biopsy; (C) hBD-2 was detected in the cytoplasm; Arrows indicate positive staining. (G-L): Gingival samples were stained with rabbit polyclonal IgG antibody to hBD-3 (1:400) using standard IHC protocol; Circled areas in (G) was amplified in (H, I); (J) was amplified in (K, L); (G-I) were derived from patient with NHGF; (J-L) were derived from a healthy control gingival biopsy; (I) hBD-3 was detected in the nuclei and cytoplasm. Arrows indicate positive staining.
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In addition, hBD-2 staining was intense, brownish-red, in the cytoplasm of tissue sections from the NHGF group ( Figures 4A-C ). In contrast, weak staining was observed in the control group sections, which were slightly yellow ( Figures 4D-F ). Figures 4G-L ). Furthermore, hBD-2 and hBD-3 were generally expressed in all epithelial layers of the NHGF group sections but were not detected in the underlying connective tissue layer.