Criteria for Gorlin syndrome Type Criteria Our patient Major Multiple (>2) basal cell carcinomas or No one diagnosed under 20 years Medulloblastoma, typically Yes desmoplastic/nodular type Odontogenic keratocysts proven by No histology [greater than or equal] 3 palmar or No plantar pits Ectopic calcification
(lamellar or Yes early falx) Family history of NBCCS Questionable Minor Skeletal malformations (sella turcica, No vertebral, hands and feet) Ocular anomaly (cataract, coloboma, No microphthalmia) Rib anomalies No Macrocephaly No Cleft lip or palate No Cardiac or ovarian fibroma No Lymphomesenteric cysts No NBCCS indicates nevoid basal cell carcinoma syndrome.
Schwarz et al., "The serum protein a2-Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification
," The Journal of Clinical Investigation, vol.
Inactivation of the insulin receptor tyrosine kinase and transforming growth factor [beta] pathways are well-known biological effects of fetuin-A, and severe ectopic calcification
was found in fetuin-A-deficient mice [9, 10].
Osteopontin (SPP1, OPN) is a multifunctional protein involved in a number of biological processes; chemotaxis, bone remodeling, cell adhesion, inhibition of ectopic calcification
, fetal growth and development, cancer metastasis and immune modulatory functions (Schack et al., 2009).
Broadly speaking, two major pathophysiological pathways explain the origins of ectopic calcification
, namely the unregulated induction of osteogenesis and second, the loss of mineralization inhibition factors.
Mechanisms of ectopic calcification
: implications for diabetic vasculopathy.
Styloid process elongation or Eagle's syndrome: is there any role for ectopic calcification
? Eur J Dent 2008;2(3):224-228.
FGF23 mutation is associated with ectopic calcification
It is the most common form of ectopic calcification
and develops around local tissue damage without any alteration to calcium or phosphate metabolism, for example, in AV.
It selectively binds to hydroxyapatite and directly inhibits the initiation and progression of ectopic calcification
. Preclinical models demonstrate that SNF472 reduces the progression of calcium deposition in blood vessels and cardiac tissue.
Instead of many hypothesis and studies, the exact etiology of styloid process and role of ectopic calcification