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Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria
Author(s) -
BonnaureMallet M.,
LoiseauCorvez M. N.,
Goasguen J.,
Apiou J.,
Jezequel C.
Publication year - 1991
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/j.1600-0714.1991.tb00426.x
Subject(s) - biopsy , medicine , pathology , dermatology , dentistry
The case described is that of a 9‐yr‐old girl presenting with aspartylglycosaminuria. Diagnosis of this lysosomal storage disease was guided by histologic study of gingival specimen sampled in the course of dental care. Transmitted electron microscopy (TEM) revealed many vesicles and cellular inclusions, altered collagenic formations, associated with abnormal extracellular matrix. Gingival biopsy is easily performed, is noniatrogenic, leaves nor scar, and could be properly used to help diagnose metabolic diseases in children.