Ch 17 Systemic Diseases 5

Question 1

Hypophosphatasia is a rare metabolic bone disease that is characterized by a deficiency of tissue nonspecific __________

Answer 1

alkaline phosphatase

Question 2

What is one of the first signs of hypophosphatasia?

Answer 2

premature loss of the primary teeth, presumably caused by a lack of cementum on the root surfaces

Question 3

Answer 3

(childhood) hypophosphatasia

Question 4

What are three common factors in all types of hypophosphatasia?

Answer 4

1. decreased bone, liver, kidney isozyme of alk phos
2. increased blood/uriniary phosphoethanolamine
3. bone abdnormalities that resemle rickets

Question 5

Name that type of hypophosphatasia: It is usually diagnosed at birth, and the infant rarely survives for more than a few hours. Death is due to respiratory
failure. Marked hypocalcification of the skeletal structures
is observed.

Answer 5

perinatal lethal

Question 6

Name that type of hypophosphatasia: clinical course similar to infantile hypophosphatasia…skeletal calcification may be detected
in some of these fetuses during the third trimester of pregnancy,
in contrast to the lethal form.

Answer 6

perinatal benign

Question 7

Name that type of hypophosphatasia: may appear
normal up to 6 months of age; after this time, they
begin to show a failure to grow

Vomiting and hypotonia
may develop as well. Skeletal malformations that suggest
rickets are typically observed; these malformations include
shortened, bowed limbs.

If these infants
survive, premature shedding of the deciduous teeth is
often seen.

Answer 7

infantile hypophosphatasia

Question 8

Name that type of hypophosphatasia:

usually detected at a later age and
has a wide range of clinical expression’

premature loss of the primary teeth
without evidence of a significant inflammatory response

deciduous incisor teeth are
usually affected first and may be the only teeth involved

open
fontanelles with premature fusion of cranial sutures.

Affected patients typically
have a short stature, bowed legs, and a waddling gait.

Answer 8

childhood hypophosphatasia

Question 9

Name that type of hypophosphatasia:

typically mild

history of premature loss of their primary or permanent
dentition, and many of these patients are edentulous

Stress
fractures that involve the metatarsal bones of the feet may
be a presenting sign of the condition, or an increased
number of fractures associated with relatively minor trauma

Answer 9

adult hypophosphatasia

Question 10

Name that type of hypophosphatasia:

the most controversial

premature loss of the
incisor teeth as the only clinical sign of disease

serologic studies will be consistent with hypophosphatasia

Answer 10

Odontohypophosphatasia

Question 11

Name that type of hypophosphatasia:

Radiographically, the skull of more severely affected individuals
may show uniformly spaced, poorly defined, small
radiolucencies, a pattern that has been described as resembling
“beaten copper.”

Answer 11

Childhood hypophosphatasia

Question 12

how is hypophosphatasia diagnosed?

Answer 12

decreased serum alk phos, increased phosphoethanolamine in both urine and blood (serum alk phos may approach normal with age)

Question 13

What is the histologic difference between infintile and childhood/adult hypophosphatasia?

Answer 13

Infantile: abundant poorly mineralized osteoid

Childhood/adult: relatively normal bone or increased woven bone (less mature osteoid)

Question 14

Why do the primary teeth exfoliate early in a patient with hypophosphatasia?

Answer 14

reduced cementum = inability of PDL fibers to attach to the tooth

Question 15

What is the treatment for hypophosphatasia?

Answer 15

Treating symptoms only - administering alk phos has no effect due to its function within a cell, not the extracellular environment

Question 16

What are the 2 alternate names for Vitamin D-Resistant Rickets?

Answer 16

1. Hereditary hypophoshatemia
2. Familial hypophosphatemic rickets

Question 17

What is the mode inheritance for Vit-D-Resistant Rickets? Gender? What is the mutated gene?

Answer 17

X-linked, males affected more severely (females attenuated due to lyonization)

PHEX gene (phosphate-regulating gene with endopeptidase activity on the X chromosome)

Question 18

Vit-D-DEPENDENT rickets: inheritance? Clinical appearance? enzyme responsible?

Answer 18

AR

hypocalcification of the teeth (NOT seen in vit D-resistant rickets)

lack of 1alpha-hydroxylase (converts calciferol to calcitriol, so replacement therapy with vitamin-D helps these patients)

Question 19

Which entitiy presents with hypocalcification of the teeth: vitamin D-dependent rickets OR vitamin D-resistant rickets?

Answer 19

vitamin D-DEPENDENT rickets

Question 20

Answer 20

Vitamin D-resistant rickets (non-vital teeth with paruli without caries)

Question 21

Answer 21

Vitamin D-Resistant Rickets

Short stature

Upper body normal, lower body shortened

Lower limbs shortened and bowed

Question 22

What are the lab results for a pt with Vitamin D-resistant rickets?

Answer 22

hypophosphatemia: an electrolyte disorder in which there is a low level of phosphate in the blood

diminished renal absorption of phosphate

decreased intestinal absorption of calcium

Question 23

What is the dental manifestation of vitamin D-resistant rickets?

Answer 23

large pulp chambers that extend to the DEJ

Question 24

What is the histo-term for the dentin in a vit D-resistant rickets patient?

Answer 24

“globular” dentin

Question 25

What are the two alternate names for Crohn disease? Where does it primary affect the GI?

Answer 25

1. Regional ileitis 2. Regional enteritis The distal SI, and proximal LI Manifestations can be seen anywere though (oral)

Question 26

What % of Crohn patients present with both oral and GI involvment?

Answer 26

30% oral can precede the GI

Question 27

What is the age distribution for Crohn disease?

Answer 27

**teenagers** when the disease first becomes evident, although another diagnostic peak of disease activity occurs in patients more than **60 years of age**

Question 28

Which other condition has a lot of crossover with the oral manifestations of Crohn disease?

Answer 28

orofacial granulomatosis

Question 29

What are the 9 (lol) oral manifestations of Crohn disease?

Answer 29

1. diffuse/nodular swelling of the oral/perioral tissues 2. **cobblestone** appearance to the mucosa 3. deep granulomatous-appearing ulcers (linear and in buccal vestibule) 4. **Mucogingivitis** (patchy erythematous macules/plaques involving attached and unattached gingivae) 5. mucosal tags/ swellings (resemble denture-related fibrous hyperplasia) 6. apthous-like oral ulcerations 7. diffuse stomatisis caused by Staph aureus (less than 1% of pts) 8. severe buccal space infection (cutaneous fistula formation) 9. **pyostomatitis vegitans**

Question 30

What is the histologic finding for a Crohn dx biopsy?

Answer 30

non-necrotizing granulomatous inflammation (r/o infection w stains and foreign body rxn with polarized light)

Question 31

What are 6 medications for Crohn disease?

Answer 31

1. Mesalamine or 2.sulfasalazine 3.paired with metronidazole 4. prednisone in severe cases paired with 5. methotrexate 6. TNF-a inhibitors for severe or refractory cases

Question 32

What is known to exacerbate Crohn disease?

Answer 32

smoking

Question 33

What is the etiology of Pyostomatitis vegitans? What organ abnormalities have also been associated?

Answer 33

unusual oral expression of inflammatory bowel disease..liver abnormalities

Question 34

Pyostomatitis vegitans: buzzword for clinical lesions Pain? Histo: what cell type is seen making epitheial abscesses?

Answer 34

"**snail track**" ulcerations (not usually ulcerated tho) pain is variable, but surprisingly minimal in some patients EOs in the epithelim (sometimes subepi)

Question 35

What is this? What was it treated with?

Answer 35

Pyostomatitis vegitans Usually, the intestinal signs and symptoms of inflammatory bowel disease are of most concern for patients with pyostomatitis vegetans. Medical management of the bowel disease with sulfasalazine or systemic corticosteroids also produces clearing of the oral lesions (see Fig. 17-45). Often the oral lesions clear within days after systemic corticosteroid therapy has begun, and they may recur if the medication is withdrawn. If the bowel symptoms are relatively mild, then the oral lesions have been reported to respond to topical therapy with some of the more potent corticosteroid preparations.

Question 36

What is the mechanism for uremic stomatitis?

Answer 36

urease produced by oral flora degrades salivary urea liberates free ammonia which damages the oral mucosa

Question 37

What type of renal failure is associated with uremic stomatitis? What can the clincial lesions of uremic stomatitis mimic?

Answer 37

acute renal failure oral hairy leukoplakia

Question 38

How long might it take for uremic stomatitis to clear post dialysis? What else might help?

Answer 38

few days to 3 weeks mildly acidic rinse (diluted hydrogen peroxide)