Ch 17 Systemic Diseases 5 Flashcards
Hypophosphatasia is a rare metabolic bone disease that is characterized by a deficiency of tissue nonspecific __________
alkaline phosphatase
What is one of the first signs of hypophosphatasia?
premature loss of the primary teeth, presumably caused by a lack of cementum on the root surfaces
(childhood) hypophosphatasia
What are three common factors in all types of hypophosphatasia?
- decreased bone, liver, kidney isozyme of alk phos
- increased blood/uriniary phosphoethanolamine
- bone abdnormalities that resemle rickets
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.
perinatal lethal
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.
perinatal benign
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.
infantile hypophosphatasia
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.
childhood hypophosphatasia
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
adult hypophosphatasia
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
Odontohypophosphatasia
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.”
Childhood hypophosphatasia
how is hypophosphatasia diagnosed?
decreased serum alk phos, increased phosphoethanolamine in both urine and blood (serum alk phos may approach normal with age)
What is the histologic difference between infintile and childhood/adult hypophosphatasia?
Infantile: abundant poorly mineralized osteoid
Childhood/adult: relatively normal bone or increased woven bone (less mature osteoid)
Why do the primary teeth exfoliate early in a patient with hypophosphatasia?
reduced cementum = inability of PDL fibers to attach to the tooth
What is the treatment for hypophosphatasia?
Treating symptoms only - administering alk phos has no effect due to its function within a cell, not the extracellular environment
What are the 2 alternate names for Vitamin D-Resistant Rickets?
- Hereditary hypophoshatemia
- Familial hypophosphatemic rickets
What is the mode inheritance for Vit-D-Resistant Rickets? Gender? What is the mutated gene?
X-linked, males affected more severely (females attenuated due to lyonization)
PHEX gene (phosphate-regulating gene with endopeptidase activity on the X chromosome)
Vit-D-DEPENDENT rickets: inheritance? Clinical appearance? enzyme responsible?
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)
Which entitiy presents with hypocalcification of the teeth: vitamin D-dependent rickets OR vitamin D-resistant rickets?
vitamin D-DEPENDENT rickets
Vitamin D-resistant rickets (non-vital teeth with paruli without caries)
Vitamin D-Resistant Rickets
Short stature
Upper body normal, lower body shortened
Lower limbs shortened and bowed
What are the lab results for a pt with Vitamin D-resistant rickets?
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
What is the dental manifestation of vitamin D-resistant rickets?
large pulp chambers that extend to the DEJ
What is the histo-term for the dentin in a vit D-resistant rickets patient?
“globular” dentin
What are the two alternate names for Crohn disease? Where does it primary affect the GI?
- Regional ileitis
- Regional enteritis
The distal SI, and proximal LI
Manifestations can be seen anywere though (oral)
What % of Crohn patients present with both oral and GI involvment?
30% oral can precede the GI
What is the age distribution for Crohn disease?
teenagers when the
disease first becomes evident, although another diagnostic
peak of disease activity occurs in patients more than 60
years of age
Which other condition has a lot of crossover with the oral manifestations of Crohn disease?
orofacial granulomatosis
What are the 9 (lol) oral manifestations of Crohn disease?
- diffuse/nodular swelling of the oral/perioral tissues
- cobblestone appearance to the mucosa
- deep granulomatous-appearing ulcers (linear and in buccal vestibule)
- Mucogingivitis (patchy erythematous macules/plaques involving attached and unattached gingivae)
- mucosal tags/ swellings (resemble denture-related fibrous hyperplasia)
- apthous-like oral ulcerations
- diffuse stomatisis caused by Staph aureus (less than 1% of pts)
- severe buccal space infection (cutaneous fistula formation)
- pyostomatitis vegitans
What is the histologic finding for a Crohn dx biopsy?
non-necrotizing granulomatous inflammation (r/o infection w stains and foreign body rxn with polarized light)
What are 6 medications for Crohn disease?
- Mesalamine or 2.sulfasalazine 3.paired with metronidazole
- prednisone in severe cases paired with 5. methotrexate
- TNF-a inhibitors for severe or refractory cases
What is known to exacerbate Crohn disease?
smoking
What is the etiology of Pyostomatitis vegitans? What organ abnormalities have also been associated?
unusual oral expression of inflammatory bowel disease..liver abnormalities
Pyostomatitis vegitans:
buzzword for clinical lesions
Pain?
Histo: what cell type is seen making epitheial abscesses?
“snail track” ulcerations (not usually ulcerated tho)
pain is variable, but surprisingly minimal in some patients
EOs in the epithelim (sometimes subepi)
What is this? What was it treated with?
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.
What is the mechanism for uremic stomatitis?
urease produced by oral flora
degrades salivary urea
liberates free ammonia which damages the oral mucosa
What type of renal failure is associated with uremic stomatitis?
What can the clincial lesions of uremic stomatitis mimic?
acute renal failure
oral hairy leukoplakia
How long might it take for uremic stomatitis to clear post dialysis?
What else might help?
few days to 3 weeks
mildly acidic rinse (diluted hydrogen peroxide)
