Difference between revisions of "Hereditary leiomyomatosis and renal cell carcinoma syndrome"

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**In one series of 21 families: 62% renal cancer, 76% had cutaneous leiomyomas and 100% had [[uterine leiomyoma]]s.<ref name=pmid16597677>{{Cite journal  | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref>
**In one series of 21 families: 62% renal cancer, 76% had cutaneous leiomyomas and 100% had [[uterine leiomyoma]]s.<ref name=pmid16597677>{{Cite journal  | last1 = Pithukpakorn | first1 = M. | last2 = Wei | first2 = MH. | last3 = Toure | first3 = O. | last4 = Steinbach | first4 = PJ. | last5 = Glenn | first5 = GM. | last6 = Zbar | first6 = B. | last7 = Linehan | first7 = WM. | last8 = Toro | first8 = JR. | title = Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. | journal = J Med Genet | volume = 43 | issue = 9 | pages = 755-62 | month = Sep | year = 2006 | doi = 10.1136/jmg.2006.041087 | PMID = 16597677 }}</ref>


Clinical:
Features - clinical:
*[[Leiomyoma]]s seen in many patients.
*[[Leiomyoma]]s seen in many patients.
**Manifestation: skin rash.<ref name=pmid24999901>{{Cite journal  | last1 = Toon | first1 = CW. | last2 = Hasovits | first2 = C. | last3 = Paik | first3 = J. | last4 = Field | first4 = M. | last5 = Chou | first5 = A. | last6 = Hugh | first6 = TJ. | last7 = Pavlakis | first7 = N. | last8 = Gill | first8 = AJ. | title = Skin rash, a kidney mass and a family mystery dating back to World War II. | journal = Med J Aust | volume = 201 | issue = 1 | pages = 58-60 | month = Jul | year = 2014 | doi =  | PMID = 24999901 }}</ref>
**Manifestation: skin rash.<ref name=pmid24999901>{{Cite journal  | last1 = Toon | first1 = CW. | last2 = Hasovits | first2 = C. | last3 = Paik | first3 = J. | last4 = Field | first4 = M. | last5 = Chou | first5 = A. | last6 = Hugh | first6 = TJ. | last7 = Pavlakis | first7 = N. | last8 = Gill | first8 = AJ. | title = Skin rash, a kidney mass and a family mystery dating back to World War II. | journal = Med J Aust | volume = 201 | issue = 1 | pages = 58-60 | month = Jul | year = 2014 | doi =  | PMID = 24999901 }}</ref>
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