Inherited disorder with marked catalase deficiency
resulting in enoral inflammation and teeth destruction.
Catalase Deficiency (CAT); Takahara Disease;
Heterogeneous group of genetic disorders first discovered
in 1948 by Takahara in Japan, an otolaryngologist who found that in
cases of progressive oral gangrene, hydrogen peroxide applied to the
ulcerated areas did not froth in the usual manner.
The frequency of the gene is relatively high in Japan
and is variable in the rest of the world. The frequency of heterozygotes is
0.09% in Hiroshima and Nagasaki but is on the order of 1.4% in other
parts of Japan. Acatalasia also has been detected in Switzerland and
Israel. Swiss and Israeli homozygotes show some residual catalase
activity, suggesting the mutation is different from that responsible for the
Japanese disease in which catalase activity is zero and no cross-reacting
material has been identified.
Believed to be an autosomal recessive disorder
resulting from the virtual absence of catalase activity observed mainly in
Japan and Switzerland. However, an autosomal dominant with polymorphism has
been suggested. Gene map locus is 11p13 deletion.
Marked deficiency of catalase, which usually is
present in red blood cells and other tissues. Catalase decomposes hydrogen
peroxide and generates oxygen, protects tissues from oxidizing agents such
as peroxide generated by bacteria (e.g., streptococci, pneumococci).
Affected persons are unable to degrade exogenous or endogenous hydrogen
peroxide, which accumulates in the periodontal tissues and leads to gingival
hypoxemia with resultant ulceration and necrosis of soft and hard tissues.
The Japanese variant (Takahara disease) is the symptomatic form, with the
pathology confined to the oral cavity.
Should be considered in the differential diagnosis of
children with oral ulcerations. The patient's blood turns brown upon contact
with hydrogen peroxide and lacks the generation of oxygen (bubbling).
Catalase activity assays show low levels.
Children tend to be normal until eruption of the
deciduous teeth, when deep necrotic periodontal or tonsillar ulcers with
surrounding inflammation, dental caries, halitosis, loose teeth, and
alveolar bone resorption begin to occur. Patients are rarely affected after
puberty. Managed with surgical debridement, extraction of affected teeth,
tonsillectomy, antibiotics, and meticulous oral hygiene. Except for
potential loss of all teeth and parts of the alveolar bone, the overall
prognosis in properly managed cases is good.
Note the presence and location of
any loose teeth and intraoral ulcerations.
Perform direct laryngoscopy carefully to
prevent accidental dislodgment of loose teeth and trauma to periodontal or
tonsillar ulcers. The latter may bleed easily and obstruct the view for
endotracheal intubation. A cuffed endotracheal tube and/or throat pack are
recommended to prevent irrigation fluid used during debridement from
entering the airway. An awake extubation should minimize the risk of
postextubation laryngospasm that may result from residual blood or
secretions in a partially anesthetized patient.
Avoid topical hydrogen peroxide,
which is highly toxic to these ...