Etiology
Singal AK,
Parker C,
Bowden C,
Thapar M,
Liu L,
McGuire BM
Hepatology
2014 Sep;60(3):1082-9.
Epub 2014 Jul 29
doi: 10.1002/hep.27086.
PMID: 24700519Free PMC Article
Arora H,
Chacon AH,
Choudhary S,
McLeod MP,
Meshkov L,
Nouri K,
Izakovic J
Int J Dermatol
2014 Jul;53(7):798-802.
Epub 2014 Mar 6
doi: 10.1111/ijd.12408.
PMID: 24602044
Casanova-González MJ,
Trapero-Marugán M,
Jones EA,
Moreno-Otero R
World J Gastroenterol
2010 Sep 28;16(36):4526-31.
doi: 10.3748/wjg.v16.i36.4526.
PMID: 20857522Free PMC Article
Lecha M,
Puy H,
Deybach JC
Orphanet J Rare Dis
2009 Sep 10;4:19.
doi: 10.1186/1750-1172-4-19.
PMID: 19744342Free PMC Article
Todd DJ
Br J Dermatol
1994 Dec;131(6):751-66.
doi: 10.1111/j.1365-2133.1994.tb08577.x.
PMID: 7857832
Diagnosis
Singal AK,
Parker C,
Bowden C,
Thapar M,
Liu L,
McGuire BM
Hepatology
2014 Sep;60(3):1082-9.
Epub 2014 Jul 29
doi: 10.1002/hep.27086.
PMID: 24700519Free PMC Article
Arora H,
Chacon AH,
Choudhary S,
McLeod MP,
Meshkov L,
Nouri K,
Izakovic J
Int J Dermatol
2014 Jul;53(7):798-802.
Epub 2014 Mar 6
doi: 10.1111/ijd.12408.
PMID: 24602044
Lecha M,
Puy H,
Deybach JC
Orphanet J Rare Dis
2009 Sep 10;4:19.
doi: 10.1186/1750-1172-4-19.
PMID: 19744342Free PMC Article
Todd DJ
Br J Dermatol
1994 Dec;131(6):751-66.
doi: 10.1111/j.1365-2133.1994.tb08577.x.
PMID: 7857832
Elder GH
Semin Dermatol
1990 Mar;9(1):63-9.
PMID: 2203445
Therapy
Yasuda M,
Desnick RJ
Mol Genet Metab
2019 Nov;128(3):332-341.
Epub 2019 Jan 18
doi: 10.1016/j.ymgme.2019.01.007.
PMID: 30737139Free PMC Article
Balwani M,
Naik H,
Anderson KE,
Bissell DM,
Bloomer J,
Bonkovsky HL,
Phillips JD,
Overbey JR,
Wang B,
Singal AK,
Liu LU,
Desnick RJ
JAMA Dermatol
2017 Aug 1;153(8):789-796.
doi: 10.1001/jamadermatol.2017.1557.
PMID: 28614581Free PMC Article
Seth AK,
Badminton MN,
Mirza D,
Russell S,
Elias E
Liver Transpl
2007 Sep;13(9):1219-27.
doi: 10.1002/lt.21261.
PMID: 17763398
Todd DJ
Br J Dermatol
1994 Dec;131(6):751-66.
doi: 10.1111/j.1365-2133.1994.tb08577.x.
PMID: 7857832
Elder GH
Semin Dermatol
1990 Mar;9(1):63-9.
PMID: 2203445
Prognosis
Ventura P,
Brancaleoni V,
Di Pierro E,
Graziadei G,
Macrì A,
Carmine Guida C,
Nicolli A,
Rossi MT,
Granata F,
Fiorentino V,
Fustinoni S,
Sala R,
Pinton PC,
Trevisan A,
Marchini S,
Cuoghi C,
Marcacci M,
Corradini E,
Sorge F,
Aurizi C,
Savino MG,
Cappellini MD,
Pietrangelo A
Eur J Dermatol
2020 Oct 1;30(5):532-540.
doi: 10.1684/ejd.2020.3880.
PMID: 33021473
Yasuda M,
Chen B,
Desnick RJ
Mol Genet Metab
2019 Nov;128(3):320-331.
Epub 2018 Nov 30
doi: 10.1016/j.ymgme.2018.11.012.
PMID: 30594473Free PMC Article
Arora H,
Chacon AH,
Choudhary S,
McLeod MP,
Meshkov L,
Nouri K,
Izakovic J
Int J Dermatol
2014 Jul;53(7):798-802.
Epub 2014 Mar 6
doi: 10.1111/ijd.12408.
PMID: 24602044
Lecha M,
Puy H,
Deybach JC
Orphanet J Rare Dis
2009 Sep 10;4:19.
doi: 10.1186/1750-1172-4-19.
PMID: 19744342Free PMC Article
Czarnecki DB
Arch Dermatol
1980 Mar;116(3):307-11.
PMID: 7369748
Clinical prediction guides
Farrell CP,
Nicolas G,
Desnick RJ,
Parker CJ,
Lamoril J,
Gouya L,
Karim Z,
Tchernitchko D,
Chan B,
Puy H,
Phillips JD
Blood Adv
2022 Feb 8;6(3):760-766.
doi: 10.1182/bloodadvances.2021005484.
PMID: 34724702Free PMC Article
Ventura P,
Brancaleoni V,
Di Pierro E,
Graziadei G,
Macrì A,
Carmine Guida C,
Nicolli A,
Rossi MT,
Granata F,
Fiorentino V,
Fustinoni S,
Sala R,
Pinton PC,
Trevisan A,
Marchini S,
Cuoghi C,
Marcacci M,
Corradini E,
Sorge F,
Aurizi C,
Savino MG,
Cappellini MD,
Pietrangelo A
Eur J Dermatol
2020 Oct 1;30(5):532-540.
doi: 10.1684/ejd.2020.3880.
PMID: 33021473
Yasuda M,
Chen B,
Desnick RJ
Mol Genet Metab
2019 Nov;128(3):320-331.
Epub 2018 Nov 30
doi: 10.1016/j.ymgme.2018.11.012.
PMID: 30594473Free PMC Article
Balwani M,
Naik H,
Anderson KE,
Bissell DM,
Bloomer J,
Bonkovsky HL,
Phillips JD,
Overbey JR,
Wang B,
Singal AK,
Liu LU,
Desnick RJ
JAMA Dermatol
2017 Aug 1;153(8):789-796.
doi: 10.1001/jamadermatol.2017.1557.
PMID: 28614581Free PMC Article
Kadara H,
Nemer G,
Safi R,
Rebeiz N,
Daou L,
Delbani D,
Btadini W,
Abbas O,
Tofaili M,
Bitar F,
Kibbi AG,
Shimomura Y,
Kurban M
Clin Genet
2017 Nov;92(5):495-502.
Epub 2017 Aug 2
doi: 10.1111/cge.12968.
PMID: 28075030