Etiology
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
doi: 10.1038/s41572-020-0210-0.
PMID: 32973163
Dinarvand P,
Davaro EP,
Doan JV,
Ising ME,
Evans NR,
Phillips NJ,
Lai J,
Guzman MA
Arch Pathol Lab Med
2019 Nov;143(11):1382-1398.
Epub 2019 May 9
doi: 10.5858/arpa.2018-0570-RA.
PMID: 31070935
Wright JT,
Fete M,
Schneider H,
Zinser M,
Koster MI,
Clarke AJ,
Hadj-Rabia S,
Tadini G,
Pagnan N,
Visinoni AF,
Bergendal B,
Abbott B,
Fete T,
Stanford C,
Butcher C,
D'Souza RN,
Sybert VP,
Morasso MI
Am J Med Genet A
2019 Mar;179(3):442-447.
Epub 2019 Jan 31
doi: 10.1002/ajmg.a.61045.
PMID: 30703280Free PMC Article
Schierbeck J,
Vestergaard T,
Bygum A
Acta Derm Venereol
2019 Apr 1;99(4):360-369.
doi: 10.2340/00015555-3123.
PMID: 30653245
Lehmann AR,
McGibbon D,
Stefanini M
Orphanet J Rare Dis
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
PMID: 22044607Free PMC Article
Diagnosis
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
doi: 10.1038/s41572-020-0210-0.
PMID: 32973163
Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
doi: 10.1016/S1474-4422(14)70063-8.
PMID: 25030515
Ferner RE,
Gutmann DH
Handb Clin Neurol
2013;115:939-55.
doi: 10.1016/B978-0-444-52902-2.00053-9.
PMID: 23931823
Lehmann AR,
McGibbon D,
Stefanini M
Orphanet J Rare Dis
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
PMID: 22044607Free PMC Article
Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
Epub 2009 May 22
doi: 10.1016/S0140-6736(09)60259-2.
PMID: 19476995Free PMC Article
Therapy
Prodinger C,
Reichelt J,
Bauer JW,
Laimer M
Exp Dermatol
2019 Oct;28(10):1176-1189.
Epub 2019 Aug 8
doi: 10.1111/exd.13979.
PMID: 31140655Free PMC Article
Craiglow BG,
Boyden LM,
Hu R,
Virtanen M,
Su J,
Rodriguez G,
McCarthy C,
Luna P,
Larralde M,
Humphrey S,
Holland KE,
Hogeling M,
Hidalgo-Matlock B,
Ferrari B,
Fernandez-Faith E,
Drolet B,
Cordoro KM,
Bowcock AM,
Antaya RJ,
Ashack K,
Ashack RJ,
Lifton RP,
Milstone LM,
Paller AS,
Choate KA
J Am Acad Dermatol
2018 Sep;79(3):487-494.
Epub 2018 Mar 1
doi: 10.1016/j.jaad.2018.02.034.
PMID: 29477734Free PMC Article
Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
doi: 10.1016/S1474-4422(14)70063-8.
PMID: 25030515
Kubowicz P,
Żelaszczyk D,
Pękala E
Curr Med Chem
2013;20(14):1801-16.
doi: 10.2174/09298673113209990118.
PMID: 23432579
Carretero M,
Escámez MJ,
Prada F,
Mirones I,
García M,
Holguín A,
Duarte B,
Podhajcer O,
Jorcano JL,
Larcher F,
Del Río M
Histol Histopathol
2006 Nov;21(11):1233-47.
doi: 10.14670/HH-21.1233.
PMID: 16874666
Prognosis
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Bardhan A,
Bruckner-Tuderman L,
Chapple ILC,
Fine JD,
Harper N,
Has C,
Magin TM,
Marinkovich MP,
Marshall JF,
McGrath JA,
Mellerio JE,
Polson R,
Heagerty AH
Nat Rev Dis Primers
2020 Sep 24;6(1):78.
doi: 10.1038/s41572-020-0210-0.
PMID: 32973163
Dinarvand P,
Davaro EP,
Doan JV,
Ising ME,
Evans NR,
Phillips NJ,
Lai J,
Guzman MA
Arch Pathol Lab Med
2019 Nov;143(11):1382-1398.
Epub 2019 May 9
doi: 10.5858/arpa.2018-0570-RA.
PMID: 31070935
Lehmann AR,
McGibbon D,
Stefanini M
Orphanet J Rare Dis
2011 Nov 1;6:70.
doi: 10.1186/1750-1172-6-70.
PMID: 22044607Free PMC Article
Asthagiri AR,
Parry DM,
Butman JA,
Kim HJ,
Tsilou ET,
Zhuang Z,
Lonser RR
Lancet
2009 Jun 6;373(9679):1974-86.
Epub 2009 May 22
doi: 10.1016/S0140-6736(09)60259-2.
PMID: 19476995Free PMC Article
Clinical prediction guides
Murthy AB,
Palaniappan V,
Karthikeyan K,
Anbarasan V
Int J Dermatol
2023 Oct;62(10):1218-1227.
Epub 2023 Aug 27
doi: 10.1111/ijd.16817.
PMID: 37634201
Stephenson SEM,
Costain G,
Blok LER,
Silk MA,
Nguyen TB,
Dong X,
Alhuzaimi DE,
Dowling JJ,
Walker S,
Amburgey K,
Hayeems RZ,
Rodan LH,
Schwartz MA,
Picker J,
Lynch SA,
Gupta A,
Rasmussen KJ,
Schimmenti LA,
Klee EW,
Niu Z,
Agre KE,
Chilton I,
Chung WK,
Revah-Politi A,
Au PYB,
Griffith C,
Racobaldo M,
Raas-Rothschild A,
Ben Zeev B,
Barel O,
Moutton S,
Morice-Picard F,
Carmignac V,
Cornaton J,
Marle N,
Devinsky O,
Stimach C,
Wechsler SB,
Hainline BE,
Sapp K,
Willems M,
Bruel AL,
Dias KR,
Evans CA,
Roscioli T,
Sachdev R,
Temple SEL,
Zhu Y,
Baker JJ,
Scheffer IE,
Gardiner FJ,
Schneider AL,
Muir AM,
Mefford HC,
Crunk A,
Heise EM,
Millan F,
Monaghan KG,
Person R,
Rhodes L,
Richards S,
Wentzensen IM,
Cogné B,
Isidor B,
Nizon M,
Vincent M,
Besnard T,
Piton A,
Marcelis C,
Kato K,
Koyama N,
Ogi T,
Goh ES,
Richmond C,
Amor DJ,
Boyce JO,
Morgan AT,
Hildebrand MS,
Kaspi A,
Bahlo M,
Friðriksdóttir R,
Katrínardóttir H,
Sulem P,
Stefánsson K,
Björnsson HT,
Mandelstam S,
Morleo M,
Mariani M;
TUDP Study Group,
Scala M,
Accogli A,
Torella A,
Capra V,
Wallis M,
Jansen S,
Weisfisz Q,
de Haan H,
Sadedin S;
Broad Center for Mendelian Genomics,
Lim SC,
White SM,
Ascher DB,
Schenck A,
Lockhart PJ,
Christodoulou J,
Tan TY
Am J Hum Genet
2022 Apr 7;109(4):601-617.
doi: 10.1016/j.ajhg.2022.03.002.
PMID: 35395208Free PMC Article
Zaballos P,
Gómez-Martín I,
Martin JM,
Bañuls J
Dermatol Clin
2018 Oct;36(4):397-412.
Epub 2018 Aug 16
doi: 10.1016/j.det.2018.05.007.
PMID: 30201149
Philpott C,
Tovell H,
Frayling IM,
Cooper DN,
Upadhyaya M
Hum Genomics
2017 Jun 21;11(1):13.
doi: 10.1186/s40246-017-0109-3.
PMID: 28637487Free PMC Article
Espiard S,
Bertherat J
Front Horm Res
2013;41:50-62.
Epub 2013 Mar 19
doi: 10.1159/000345669.
PMID: 23652670