metabolic disturbances (1)
TRANSCRIPT
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METABOLIC DISTURBANCES
Prepared by:Dr. Rea Corpuz
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(1) Histiocytosis X
Hand Schuller Christian
Eosinophilic Granuloma
Letterer Siwe
(2) Niemann Pick Disease
Metabolic Disturbances
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Langerhans cell diseases (LCD)
also formerly known as
• histiocytosis X• idiopathic histiocytosis
Histiocytosis X
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Langerhans cell diseases (LCD)
disorder characterized by
• proliferation of cells exhibiting phenotypic characteristics of Langerhans cells
Histiocytosis X
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historically, term histiocytosis X was used to encompass 3 disorders:
Eosinophilc Granuloma
Schuller-Christian Syndrome
Letterer-Siwe Disease
Histiocytosis X
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grouped together because of similar microscopic appearance
Histiocytosis X
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also known as Chronic Localized (LCD)
refers to solitary or multiple bone lesions only
Histiocytosis X(Eosinophic Granuloma)
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occasionally, gross periodontal destruction exposes the roots of teeth
adults are mainly affected
lesion is most frequently in mandible
Histiocytosis X(Eosinophic Granuloma)
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Radiographic Features
rounded area of radiolucency with indistinct margins
appearance of floating in air
Histiocytosis X(Eosinophic Granuloma)
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also known as Chronic Disseminated (LCD)
specific clinical triad of lytic bone lesions
exophthalmos
diabetes insipidus
Histiocytosis X(Hand-Schuller Christian Syndrome)
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many affected persons also exhibit:
lymphadenopathy
dermatitis
splenomegaly
hepatomegaly
Histiocytosis X(Hand-Schuller Christian Syndrome)
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also known as Acute Disseminated LCD
malignant process
characterized by rapidly progressive, often fatal course
Histiocytosis X(Letterer-Siwe Disease)
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aggressive form of histiocytosis
affects infants or young children
Histiocytosis X(Letterer-Siwe Disease)
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widespread organ, bone, + skin involvement by proliferative process in infants has been the common presentation
Histiocytosis X(Letterer-Siwe Disease)
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Etiology & Pathogenesis
unknown
although viral infection has long been suspected
Histiocytosis X
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Clinical Features
condition of children + young adult
age range also extends to older adults
Histiocytosis X
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Clinical Features
monostotic + polyostotic forms of disorder may affect any bone of body
• skull• mandible• ribs• vertebrae• longs bone are often involved
Histiocytosis X
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Clinical Features
Histiocytosis X
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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
Histiocytosis X
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Clinical Features
tenderness common pain patient
complaints swelling
Histiocytosis X
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Clinical Features
loosening of teeth in area of affected alveolar bone is common occurrence
gingival tissues
• inflammed• hyperplastic• ulcerated
Histiocytosis X
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Clinical Features
oral mucosal lesions in the form of
• submucosal nodules• ulcers• leukoplakia
Histiocytosis X
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Clinical Features
jaw
• solitary or multiple radiolucent lesions
• can affect alveolar bone causing teeth to appear as if they were floating
Histiocytosis X
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Clinical Features
jaw
• bone lesions with a sharply circumscribed or punched out appearance may also occur in central aspect of
mandible maxilla
Histiocytosis X
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Treatment & Prognosis
Localized Disease
• Curettage• Radiation, low dose• Intralesional corticosteroid injection• rare spontaneous regression
Histiocytosis X
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Treatment & Prognosis
Disseminated Disease
• Immunosuppressive agents
• corticosteroids
Histiocytosis X
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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
Niemann-Pick Disease
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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
Niemann-Pick Disease
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characterized by deficiency of acid sphingomyelinase
resulting in accumulation of sphingomyelin
also within lysosomes of macrophages
Niemann-Pick Disease
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occurs as 3 different types, each associated with a different clinical expression + prognosis
Type A
Type B
Type C
Niemann-Pick Disease
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Type A & B
caused by deficiency of acid sphingomyelinase
Type C
primarily mutation of NPC-1
• gene involved with cholesterol processing
Niemann-Pick Disease
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Type A & C
neuronopathic features
• psychomotor retardation• dementia• spasticity• hepatosplenomegaly• with death occuring during 1st or 2nd decade of life
Niemann-Pick Disease
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Type B
normally survive into adulthood
exhibit visceral signs
primarily hepatosplenomegaly
sometime pulmonary involvement
Niemann-Pick Disease
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Treatment
poor prognosis
genetic counseling should be provided for affected families
Niemann-Pick Disease
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References:References:
BooksBooks
Cawson, R.A: Cawson’s Essentials of OralCawson, R.A: Cawson’s Essentials of Oral Oral Pathology and Oral Medicine,Oral Pathology and Oral Medicine, 88thth Edition Edition
• (page 165-167 )(page 165-167 ) Neville, et. al: Oral and Maxillofacial PathologyNeville, et. al: Oral and Maxillofacial Pathology 33rdrd Edition Edition
• (pages 590-592; 819-820) (pages 590-592; 819-820) Regezi, et. al: Oral Pathology: Clinical PathologicRegezi, et. al: Oral Pathology: Clinical Pathologic Correlations, 5Correlations, 5thth Edition Edition
• (pages 296-299)(pages 296-299)