Metabolic Diseases

Metabolic Diseases

Nutritional DeficienciesEndocrinopathiesIn-Born Errors of Metabolism

Endrocrinopathies

• Anterior Pituitary• Posterior Pituitary• Thyroid• Parathyroid• Adrenal• Pancreatic Islets

Anterior Pituitary

• Growth hormone• Hyperpituitarism

– Acidophilic Adenoma– Gigantism– Acromegaly

• Deficiency of Growth Hormone– Dwarfism, diminutive stature

Hypopituitarism: Posterior PituitaryDiabetes Insipidis

• Infiltration of posterior pituitary by pathologic processes

• Langerhans Cell Histiocytosis, chronic disseminated form– Exophthalmos– Diabetes insipidis– Intraosseous lesions (including jaws)

• Loss of Anti-Diuretic Hormone secretion• Polyuria, Nocturia

Langerhans Cell HistiocytosisTeeth floating in space

Hyperthyroidism

Hyperparathyroidism• Primary form

– Parathyroid Adenoma or Hyperplasia• Secondary forms)

– Renal osteodystrophy– Hormone secreting small cell carcinomas (lung)

• Elevated levels of parathormone stimulate osteoclastic resorption• Elevated serum calcium, Low serum phosphate, normal alkaline

phosphatase• Osteolytic lesions (brown tumors): Giant cell tumors in many sites

including jaws• Stones, Bones, Abdominal Moans

– Urolithiasis secondary to hypercalciuria– Giant cell lesions of bone– Painful abdomen due to stones

Hyperparathyroidism

Brown Tumor Hyperparathyroidism

Nutritional Diseases• Protein Deficiency(Kwashiorkor)• Caloric Deficiency(Marasmus)• Fat Soluble Vitamins

– Vitamin A– Vitamin D– Vitamin E– Vitamin K

• Water Soluble Vitamins– Riboflavin– Thiamine (Beri-Beri)– Nicotinamide (Pellagra)– Vitamin B12– Folic Acid

Ascorbic Acid Deficiency (Scurvy)

• Defective collagen synthesis• Vessel wall fragility, petechiae• Delayed wound healing• Excessive cartilage with defective osteoid

formation (scorbutic lattice – rib cage)• Periodontal Breakdown

Scurvy (avitaminosis C)

Chondroid nodules at costochondralJunction > Scorbutic Lattice

Accelerated Periodontitis

Pellagra (Nicotinamide)• Dermatitis, Diarrhea, Dementia (3 Ds)

Pernicious Anemia(B12)“bald tongue”

In-Born Errors of Metabolism(enzyme deficiency diseases)• Hematopoietic

– Thalassemia– Sickle Cell Anemia– Hemophilia (Pseudotumor)

• Lipid Reticuloendothelioses• Vitamin D Refractory Rickets• Hypophosphatasemia

Thalassemia Major

Sickle Cell Anemia

Hair on endSickled erythrocytes

Hemoglobin electrophoresis

HGB-S/SHGB-S/A

Hemophilia• Two major forms and other rare forms

hemophila A factor VIII (X linked recessive)hemophila B factor IX

• Due to mutated clotting factors, a hemorrhagic diathesis occurs

• Bleeding tendencies are evident in childhood• Intraosseous hemorrhage leads to

“pseudotumors” that may occur in the jaws.

Vitamin D Dependent Hereditary Rickets

• Inherited as an autosomal dominant trait with inability to form 1α,25 dihydroxy-Vit D3– Type I – mutation in 1α hydroxylase– Type II – mutation in vitamin D receptor complex

• Coronal fissures in which bacteria can gain access to the pulp in the absence of carious lesions

• Periapical radiolucencies representing spread of endodontic infection

• Generalized features in common with vitamin D deficient rickets (without response to vitamin therapy)

Coronal Fissures, Apical InfectionsVitamin D Refractory Rickets

Hypophosphatasemia• Defective ossification• Genetic defect in

alkaline phosphatase, an enzyme need for mineralization

• Dental manifestation: Cemental Agenesis Normal Cemental

Agenesis

Osteopetrosis (Marble Bone Disease)

• Albers-Schonberg Disease• A genotypically diverse group of diseases with similar

phenotype• Defective osteoclastic resorption resulting in dense,

generalized ossification, autosomal dominant and autosomal recessive forms

• Muations in Genes for carbonic anhydrase II, vacuolar protein pump of the brush border, cathepsin K (pycnodysostosis)

• Teeth are obscured by bone density as seen radiographically, impaired eruption

• Malignant forms with pancytopenia (myelophthisic anemia)

Osteopetrosis (Marble Bone)