Oral and craniofacial findings in Fabry's disease: a report of 13 patients.
OBJECTIVE
Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations.


METHODS
This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging.


RESULTS
A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism.


CONCLUSIONS
Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.
Baccaglini
L
L
National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD, USA. Epi.bacclore@unc.edu
Schiffmann
R
R
Brennan
M T
MT
Lancaster
H E
HE
Kulkarni
A B
AB
Brahim
J S
JS
D000328:Adult; D000794:Angiokeratoma / Q000209:etiology; D002508:Cephalometry; D003560:Cysts / Q000209:etiology; D000795:Fabry Disease / Q000150:complications*; D006801:Humans; D007575:Jaw, Edentulous / Q000209:etiology; D008297:Male; D008310:Malocclusion / Q000209:etiology; D008443:Maxillary Sinus; D008875:Middle Aged; D009059:Mouth Diseases / Q000209:etiology*; D009061:Mouth Mucosa / Q000473:pathology; D010254:Paranasal Sinus Diseases / Q000209:etiology*; D011378:Prognathism / Q000209:etiology; D012878:Skin Neoplasms / Q000209:etiology; D014987:Xerostomia / Q000209:etiology