Chdiak-Higashi

syndrome (C-HS)
Chdiak-Higashi syndrome (C-HS) is a rare
congenital disease characterized by
defective neutrophil function with
abnormal lysosomal inclusions, neutropenia,
and reduced chemotaxis.
The complete syndrome includes
oculocutaneous albinism with photophobia,
neurologic features,
recurrent infections, and
enterocolitis.
85% of children with CHS, especially
those that have not undergone bone
marrow transplant, develop the
accelerated phase of the syndrome
which is characterized by a
lymphoproliferative reaction
eventuating in an unusual lymphoma-
like condition which generally conduces
to death.
The accelerated phase can be triggered
by infections with lymphoproliferative
viruses or the Epstein Barr virus.
Most patient die during the first 10
years of life either by developing the
accelerated phase, severe infections or
profuse bleeding.
Immunologi findings
Laboratory findings included
neutropenia and hypergammaglobulinemia.
Peripheral blood smears showed giant granules
in neutrophils, eosinophils, and granulocytes.
Bone marrow smears showed giant inclusions in
leukocyte precursor cells. These granules and
inclusions were characteristic of Chdiak-
Higashi syndrome.
Radiografi findings
Oral radiographic status showed
extensive loss of alveolar bone leading,
in most cases, to tooth exfoliation.
Microbiology findings
Bacteria often associated with
periodontitis were detected in
subgingival plaque samples, including
Fusobacterium nucleatum,
Campylobacter rectus,
Prevotella melaninogenica,
Peptostreptococcus anaerobius, and
Clostridium sp.
Biopsies of periodontal tissues for
light and electronic microscopic
examinations revealed massive
bacterial invasion of the epithelial
tissue, epithelial cells, and connective
tissue.
Ultrastructural observations of
periodontal polymorphonuclear
leukocytes showed defective
granulation, with abnormal granules
not discharging their lysosomal
content against engulfed bacteria.
Viable dividing bacteria were found in
the cytoplasm.
Leukemia
The leukemias are malignant neoplasias
of WBC precursors characterized by
(1) diffuse replacement of the bone marrow
with proliferating leukemic cells,
(2) abnormal numbers and forms of immature
WBCs in the circulating blood, and
(3) widespread infiltrates in the liver, spleen,
lymph nodes, and other body sites.
Hyperplastic gingivitis with a cyanotic
bluish-red discoloration
In some patients there is diffuse
enlargement of the gingiva.
The oral tissues are friable and bleed
easily, purpuric lesions and necrotic ulcers
Frequently, hyperplastic gingivae may
completely cover the teeth.
Tooth migration
Acute necrotizing ulcerative gingivitis






hypertrophic gingivitis in this child with leukemia.







female, hypertrophy of the interdental papillae as well as the large
hematomas in the lower lip.
Radiografi findings
Thinning of lamina dura
Destruction of periodontal ligament
When the oral cavity is kept free of
local irritants such as plaque, food
debris, ill-fitting dentures, and the like,
oral involvement may be minimal.

The course and complications of the
disease depend upon the basic systemic
defect. The condition often has a fatal
outcome.
The use of complete blood count and
differential establishes the diagnosis.
Gingival biopsy is only suggestive of the
condition and must be corroborated by
hematologic examination.
The treatment is systemic and mostly
paliative encompassing a variety of means
such as
chemotherapy,
radiation,
bone marrow transplant, and some
others.
The oral cavity should be free of local
irritants and the patient must be
instructed to maintain a high level of oral
hygiene.