METABOLIC DISTURBANCES

Prepared by:Dr. Rea Corpuz

(1) Histiocytosis X

Hand Schuller Christian

Eosinophilic Granuloma

Letterer Siwe

(2) Niemann Pick Disease

Metabolic Disturbances

Langerhans cell diseases (LCD)

also formerly known as

• histiocytosis X• idiopathic histiocytosis

Histiocytosis X

Langerhans cell diseases (LCD)

disorder characterized by

• proliferation of cells exhibiting phenotypic characteristics of Langerhans cells

Histiocytosis X

historically, term histiocytosis X was used to encompass 3 disorders:

Eosinophilc Granuloma

Schuller-Christian Syndrome

Letterer-Siwe Disease

Histiocytosis X

grouped together because of similar microscopic appearance

Histiocytosis X

also known as Chronic Localized (LCD)

refers to solitary or multiple bone lesions only

Histiocytosis X(Eosinophic Granuloma)

occasionally, gross periodontal destruction exposes the roots of teeth

adults are mainly affected

lesion is most frequently in mandible

Histiocytosis X(Eosinophic Granuloma)

Radiographic Features

rounded area of radiolucency with indistinct margins

appearance of floating in air

Histiocytosis X(Eosinophic Granuloma)

also known as Chronic Disseminated (LCD)

specific clinical triad of lytic bone lesions

exophthalmos

diabetes insipidus

Histiocytosis X(Hand-Schuller Christian Syndrome)

many affected persons also exhibit:

lymphadenopathy

dermatitis

splenomegaly

hepatomegaly

Histiocytosis X(Hand-Schuller Christian Syndrome)

also known as Acute Disseminated LCD

malignant process

characterized by rapidly progressive, often fatal course

Histiocytosis X(Letterer-Siwe Disease)

aggressive form of histiocytosis

affects infants or young children

Histiocytosis X(Letterer-Siwe Disease)

widespread organ, bone, + skin involvement by proliferative process in infants has been the common presentation

Histiocytosis X(Letterer-Siwe Disease)

Etiology & Pathogenesis

unknown

although viral infection has long been suspected

Histiocytosis X

Clinical Features

condition of children + young adult

age range also extends to older adults

Histiocytosis X

Clinical Features

monostotic + polyostotic forms of disorder may affect any bone of body

• skull• mandible• ribs• vertebrae• longs bone are often involved

Histiocytosis X

Clinical Features

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

Histiocytosis X

Clinical Features

tenderness common pain patient

complaints swelling

Histiocytosis X

Clinical Features

loosening of teeth in area of affected alveolar bone is common occurrence

gingival tissues

• inflammed• hyperplastic• ulcerated

Histiocytosis X

Clinical Features

oral mucosal lesions in the form of

• submucosal nodules• ulcers• leukoplakia

Histiocytosis X

Clinical Features

jaw

• solitary or multiple radiolucent lesions

• can affect alveolar bone causing teeth to appear as if they were floating

Histiocytosis X

Clinical Features

jaw

• bone lesions with a sharply circumscribed or punched out appearance may also occur in central aspect of

mandible maxilla

Histiocytosis X

Treatment & Prognosis

Localized Disease

• Curettage• Radiation, low dose• Intralesional corticosteroid injection• rare spontaneous regression

Histiocytosis X

Treatment & Prognosis

Disseminated Disease

• Immunosuppressive agents

• corticosteroids

Histiocytosis X

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

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

characterized by deficiency of acid sphingomyelinase

resulting in accumulation of sphingomyelin

also within lysosomes of macrophages

Niemann-Pick Disease

occurs as 3 different types, each associated with a different clinical expression + prognosis

Type A

Type B

Type C

Niemann-Pick Disease

Type A & B

caused by deficiency of acid sphingomyelinase

Type C

primarily mutation of NPC-1

• gene involved with cholesterol processing

Niemann-Pick Disease

Type A & C

neuronopathic features

• psychomotor retardation• dementia• spasticity• hepatosplenomegaly• with death occuring during 1st or 2nd decade of life

Niemann-Pick Disease

Type B

normally survive into adulthood

exhibit visceral signs

primarily hepatosplenomegaly

sometime pulmonary involvement

Niemann-Pick Disease

Treatment

poor prognosis

genetic counseling should be provided for affected families

Niemann-Pick Disease

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)