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Review
. 2020 Mar;54(1):69-74.
doi: 10.15644/asc54/1/8.

Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome

Predrag Knežević  1   2 , Marko Tarle  1   3 , Lucija Ida Fratrić  4 , Antonia Tarle  2 , Hana Knežević-Krajina  3 , Darko Macan  1   2
Affiliations
Review

Gingival Hypertrophy in a Child with Hyaline Fibromatosis Syndrome

Predrag Knežević et al. Acta Stomatol Croat. 2020 Mar.

Abstract

Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive genetic disorder characterized by accumulation of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular, and systemic involvement. The condition is caused by a mutation of ANTXR2 gene that results in a faulty synthesis of a transmembrane protein which leads up to excessive deposition of hyaline material in extracellular space. The first signs may be present at birth or appear during infancy, and joint stiffness is the first, most common, symptom. Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. The symptom that raises suspicion of HFS is present later, along with subcutaneous growths. The progression of the disease includes enteropathy with extensive protein loss, chronic diarrhea and frequent infections. We present a case of a five-year-old girl with severe gingival hypertrophy that caused difficulties in eating and speaking. To the best of our knowledge, this is also the first patient in Croatia with a confirmed ANTXR2 gene mutation described in the literature.

Keywords: ANTXR2 gene; Extracellular Matrix; Gingival Hypertrophy; Gingivectomy; Systemic Hyalinosis.

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Conflict of interest statement

Conflict of interests: The authors have no competing interests.

Figures

Figure 1
Figure 1
Five year old patient with Hyaline Fibromatosis Syndrome (HFS).
A. Limited joint movements: flexion deformity of elbows, wrists and small joints of both hands.
B. Hyperpigmented macules over bony prominences of the joints and multiple subcutaneous nodules.
C. Pearly papules on the back side of the neck.
D. Facial profile showing depressed nasal bridge and low set ears. Retroauricular subcutaneous nodule behind the right ear.
E. Preoperative appearance of generalized gingival hypertrophy of both jaws completely covering the teeth.
F. Early postoperative status after surgical gingivectomy with intact deciduous teeth.
G. Clinical appearance of the gingiva 1 year after the procedure.
H. Pathological specimen of excised gingiva showing accumulation of eosinophilic hyaline deposit in intercellular space.
See this image and copyright information in PMC

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References

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