Chapter 17: Oral manifestations of systemic diseases Flashcards
Mucopolysaccharidoses
-‐ AR, lack of enzymes that process glycosaminoglycans (mucopolysaccharides),
-‐ Ex of MPS: heparin, dermatan, keratan, and chondroitin sulfate
-‐ Types: Hurler, Scheie, Hunter, Sanfilippo (A/B), Morquio (A/B) and Maroteux-‐Lamy
-‐ Feats: cloudy cornea, heavy brow ridges, stiff joints and metal retardation
-‐ Oral: gingival hyperplasia, impacted teeth with pronounced follicle, macroglossia
-‐ Dx: levels of glycosaminoglycans in urine and enzyme def (eg. iduronidase)
Lipid reticuloendothelioses
-‐ AR, “storage diseases”. Lack of enzymes that process lipids (accumulate in macrophages)
-‐ Gaucher disease: lack of glucocerebrosidase, accumulates glucosylceramide (most common)
-‐ Type 1 (nonneuronopathic, most in Jewish) and type 2 and 3 (neuronopathic)
-‐ Gaucher: Niemann-‐Pick disease: lack of acid sphingomyelinase, accumulates sphyngomyelin
-‐ Tay-‐Sachs: lack of beta-‐hexosaminidase A, accumulates ganglionside
-‐ Gaucher disease: Macrophages accumulate in the marrow -‐> bone infarction, pain, MD RL. Gaucher: Erlenmeyer flask deformity of femur
-‐ Niemann-‐Pick disease: Type A, B, C (NPC-‐1 gene mutation).
-‐ A+C-‐> neuronopathic (retardation, dementia, early death. B-‐> hepatosplenomegaly
-‐ Gaucher cells: lipid-‐filled macrophages with bluish cytoplasm and wrinkled silk texture
-‐ Niemann-‐Pick: “sea blue” histiocytes on bone marrow aspirate
Lipoid proteinosis (Urbach-‐Wiethe syndrome, hyalinosis cutis et mucosae)
-‐ AR, deposition of waxy material in dermis and submucosal tissue. ECM1 gene mutation.
-‐ Initially affects laryngeal mucosa and vocal chords -‐> First sign: infant not crying or hoarse cry.
-‐ Amorphous material in laryngeal mucosa. Also, thick yellow papules in lips and eyelids
-‐ Thickened, furrowed skin. Symmetrical intracranial calcifications.
-‐ Oral: Enlargement of tongue, lips and cheek. Smooth tongue that can attach to FOM
-‐ Histo: basement membrane material around vessels, nerves, hair follicls and sweat glds (PAS+)
Jaundice (Icterus)
-‐ Hemoglobin-‐>Bilirubin-‐>Blood (unconjugated)-‐>Liver (conjugated)-‐>bile excretion
-‐ Excess bilirubin in blood and tissues. Causes: hemolytic anemia, sickle cell anemia, liver malfunction, Gilbert syndrome (bilirubin not conjugated), reduced excretion bile
-‐ Yellow discoloration of skin and mucosa (sclera, lingual frenum and soft palate)
-‐ Hypercarotenemia: skin is yellow, but sclera is not
Amyloidosis
-‐ Deposition of amyloid (all have -‐pleated sheet configuration) (deposits are Ig light chains)
-‐ Organ-‐limited and systemic (primary; myeloma associated; secondary: TB, sarcoidosis, osteomyelitis; hemodyalisis-‐associated; heredofamilial). Death due to heart or kidney failure
-‐ Familial Mediterranean fever: AR form of heredofamilial amyloidosis
-‐ Types: AL=amyloid-‐Ig light chain (organ-‐limited, primary, and myeloma-‐assoc); AA= acute phase protein (secondary); Aβ2-‐microglobulin (hemodylasis associated)
-‐ Stains: congo-‐red (red and apple-‐green birefringence), crystal violet, thyoflavine T, sirius red
-‐ Sign-‐out: clinical correlation required to determine the cause of the amyloid deposition
Vitamin deficiency
‐ Vitamin A (retinol):
‐ Vitamin A (retinol): night blindness
Vitamin deficiency
B1 (thiamine):
B1 (thiamine): Aka beriberi. Alcoholics or diet unbalance. Causes CV and neurological issues.
-‐ Wernicke’s encelopathy: vomiting, nystagmus and mental retardation
Vitamin deficiency
B2 (riboflavin):
B2 (riboflavin): glossitis, angular cheilitis, swelling and erythema of oral mucosa
Vitamin deficiency
B3 (niacin):
-‐ B3 (niacin): aka pellagra. 3D’s: dermatitis, dementia and diarrhea. Stomatitis and glossitis
Vitamin deficiency
B6 (pyridoxine):
B6 (pyridoxine): pts under TB drugs. Cheilitis and glossitis
Vitamin deficiency
Vit C
Vit C: Scurvy. Vitaminc C required for post-‐translational proline hydroxylation of the collagen a chains requires. Petecchiae and ecchymosis (weak vascular walls). Defic healing. Scorbutic gingivitis
Vitamin deficiency
Vit D
Vit D: rickets in children (rachitic rosary: prominence of costochondral junctions; bowing of bones). Ostemalacia in adults (bone fragility, fractures and pain)
Vitamin deficiency
Vit E
Vit E: in children with chronic cholestatic liver disease (malabsorption). CNS issues.
Vitamin deficiency
Vit K:
Vit K: malabsorption syndromes, antibiotics or anti-‐coagulants. Gingival bleeding.
Iron deficiency anemia
-‐ Most common form of anemia in US and world.
-‐ Decreased red blood cell count, with Microcytic, hypochromic anemia
-‐ Due to ↑ blood loss (menorrhagia, GI disease), ↑need for RBC (pregnancy), ↓intake iron (children, elderly) or ↓absorption iron (celiac disease)
-‐ Oral: angular cheilitis and atrophic glossitis or generalized oral mucosa atrophy, painful tongue
-‐ Achlorhydria (absence of gastric acid) and Howell-‐Jolly bodies (clusters of DNA in circulating erythrocytes)
