1. METABOLIC
DISTURBANCE
S
Prepared by:
Dr. Rea Corpuz

2. Metabolic Disturbances
 (1) Histiocytosis X
 Hand Schuller Christian
 Eosinophilic Granuloma
 Letterer Siwe
 (2) Niemann Pick Disease

3. Histiocytosis X
 Langerhans cell diseases
(LCD)
 also formerly known as
• histiocytosis X
• idiopathic histiocytosis

4. Histiocytosis X
 Langerhans cell diseases
(LCD)
 disorder characterized by
• proliferation of cells exhibiting
phenotypic characteristics of
Langerhans cells

5. Histiocytosis X
 historically, term histiocytosis
X was used to encompass 3
disorders:
 Eosinophilc Granuloma
 Schuller-Christian Syndrome
 Letterer-Siwe Disease

6. Histiocytosis X
 grouped together because
of similar microscopic
appearance

7. Histiocytosis X
(Eosinophic Granuloma)
 also known as Chronic Localized
(LCD)
 refers to solitary or multiple
bone lesions only

8. Histiocytosis X
(Eosinophic Granuloma)
 occasionally, gross periodontal
destruction exposes the roots
of teeth
 adults are mainly affected
 lesion is most frequently
in mandible

9. Histiocytosis X
(Eosinophic Granuloma)
 Radiographic Features
 rounded area of radiolucency
with indistinct margins
 appearance of floating
in air

10. Histiocytosis X
(Hand-Schuller Christian Syndrome)
 also known as Chronic Disseminated
(LCD)
 specific clinical triad of lytic
bone lesions
 exophthalmos
 diabetes insipidus

11. Histiocytosis X
(Hand-Schuller Christian Syndrome)
 many affected persons also
exhibit:
 lymphadenopathy
 dermatitis
 splenomegaly
 hepatomegaly

12. Histiocytosis X
(Letterer-Siwe Disease)
 also known as Acute
Disseminated LCD
 malignant process
 characterized by rapidly
progressive, often fatal course

13. Histiocytosis X
(Letterer-Siwe Disease)
 aggressive form of histiocytosis
 affects infants or young children

14. Histiocytosis X
(Letterer-Siwe Disease)
 widespread organ, bone,
+ skin involvement by
proliferative process in infants
has been the common
presentation

15. Histiocytosis X
 Etiology & Pathogenesis
 unknown
 although viral infection
has long been suspected

16. Histiocytosis X
 Clinical Features
 condition of children +
young adult
 age range also extends
to older adults

17. Histiocytosis X
 Clinical Features
 monostotic + polyostotic
forms of disorder may
affect any bone of body
• skull
• mandible
• ribs
• vertebrae
• longs bone are often involved

18. Histiocytosis X
 Clinical Features

19. Histiocytosis X
 Clinical Features
 oral changes may be
initial presentation in all
forms of disorder
 skin, mucosal, or bone
involvement in head + neck
region was noted in more
than 80% of children

20. Histiocytosis X
 Clinical Features
 tenderness
common
 pain patient
complaints
 swelling

21. Histiocytosis X
 Clinical Features
 loosening of teeth in
area of affected alveolar
bone is common occurrence
 gingival tissues
• inflammed
• hyperplastic
• ulcerated

22. Histiocytosis X
 Clinical Features
 oral mucosal lesions in
the form of
• submucosal nodules
• ulcers
• leukoplakia

23. Histiocytosis X
 Clinical Features
 jaw
• solitary or multiple
radiolucent lesions
• can affect alveolar bone
causing teeth to appear
as if they were floating

24. Histiocytosis X
 Clinical Features
 jaw
• bone lesions with a
sharply circumscribed
or punched out appearance
may also occur in central
aspect of
 mandible
 maxilla

25. Histiocytosis X
 Treatment & Prognosis
 Localized Disease
• Curettage
• Radiation, low dose
• Intralesional corticosteroid
injection
• rare spontaneous regression

26. Histiocytosis X
 Treatment & Prognosis
 Disseminated Disease
• Immunosuppressive agents
• corticosteroids

27. Niemann-Pick Disease
 considered to be as a storage
disease
 affected patients lack enzymes
necessary for processing
specific lipids
 results in accumulation
of the lipids within a variety
of cells

28. Niemann-Pick Disease
 because of this accumulation
it appeared that cells were
attempting to store this
substances;
 therefore the term storage
disease was commonly used
for these disorders

29. Niemann-Pick Disease
 characterized by deficiency of
acid sphingomyelinase
 resulting in accumulation
of sphingomyelin
 also within lysosomes of
macrophages

30. Niemann-Pick Disease
 occurs as 3 different types,
each associated with a different
clinical expression + prognosis
 Type A
 Type B
 Type C

31. Niemann-Pick Disease
 Type A & B
 caused by deficiency of acid
sphingomyelinase
 Type C
 primarily mutation of
NPC-1
• gene involved with
cholesterol processing

32. Niemann-Pick Disease
 Type A & C
 neuronopathic features
• psychomotor retardation
• dementia
• spasticity
• hepatosplenomegaly
• with death occuring during
1st or 2nd decade of life

33. Niemann-Pick Disease
 Type B
 normally survive into
adulthood
 exhibit visceral signs
 primarily hepatosplenomegaly
 sometime pulmonary involvement

34. Niemann-Pick Disease
 Treatment
 poor prognosis
 genetic counseling should
be provided for affected
families

35. References:
 Books
 Cawson, R.A: Cawson’s Essentials of Oral
Oral Pathology and Oral Medicine,
8th Edition
• (page 165-167 )
 Neville, et. al: Oral and Maxillofacial Pathology
3rd Edition
• (pages 590-592; 819-820)
Regezi, et. al: Oral Pathology: Clinical Pathologic
Correlations, 5th Edition
• (pages 296-299)