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Table 1 Reported Olmsted syndrome cases in the literature

From: Olmsted syndrome: clinical, molecular and therapeutic aspects

Reference Number of cases Sex Mutation
Olmsted, 1927 [1] 1 Male Not reported
Costa, 1962 [2] 1 ? Not reported
Keir, 1967 [3] 1 Female Not reported
Ruiz-Maldonado et al., 1972 [4] 1 Female Not reported
Michalowski, 1983 [5] 1 Male Not reported
Poulin et al., 1984 [6] 1 Male Not reported
Barnett et al., 1985 [7] 1 Male Not reported
Harms et al., 1985 [8] 1 Male Not reported
Rivers et al., 1985 [9] 4 (child, father, paternal aunt and grandmother) 2 females, 2 males Not reported
Battini et al., 1989 [10] 1 Male Not reported
Georgii et al., 1989 [11] 1 Female Not reported
Atherton et al., 1990 [12] and Armstrong et al., 1997 [13] 1 (son of case reported in Keir, 1967 [3]) Male Not reported
Judge et al., 1991 [14] 1 Male Not reported
Hausser et al., 1993 [15] 1 ? Not reported
Ueda et al., 1993 [16] and Yoshizaki et al., 2001 [17] 1 Male Not reported
Lucker et al., 1994 [18] 1 Male Not reported
Cambiaghi et al., 1995 [19] 2 (twins) Male Not reported
Kress et al., 1996 [20] and Raskin and Tu, 1997 [21] 1 Female Not reported
Dogra et al., 1997 [22] 1 Male Not reported
Frias-Iniesta et al., 1997 [23] 1 Male Not reported
Santos et al., 1997 [24] 1 Male Not reported
Sirka et al., 1999 [25] 1 Male Not reported
Larregue et al., 2000 [26] 2 Male Not reported
Fonseca et al., 2001 [27] 1 Female Not reported
Koch et al., 2001 [28] 1 Female Not reported
Requena et al., 2001 [29] 1 Male Not reported
Bergonse et al., 2003 [30] 2 Male Not reported
Dessureault et al., 2003 [31] 1 Female Not reported
Ogawa et al., 2003 [32] 1 Female LOR excluded
Batra and Shah, 2004 [33] 1 Male Not reported
Inamadar et al., 2004 [34] 1 Male Not reported
Al-Mutairi et al., 2005 [35] 1 Female Not reported
Mevorah et al., 2005 [36] and Eytan et al., 2014 [37] 1 Male TRPV3 p.Trp521Ser
Ziaaddini et al., 2006 [38] 1 Male Not reported
Ali et al., 2007 [39] 3 (2 brothers) 2 Males, 1 ? Not reported
Yaghoobi et al., 2007 [40] and Haghighi et al., 2012 [41] 2 (uncle, nephew) Male MBTPS2 p.Phe464Ser
Bedard et al., 2008 [42] 2 Female Not reported
Kumar et al., 2008 [43] 1 Female Not reported
Tao et al., 2008 [44] 1 Male Not reported
Nofal et al., 2010 [45] 2 (sister) Female Not reported
Vosynioti et al., 2010 [46] 1 Male Not reported
Tharini et al., 2011 [47] 2 Female Not reported
Elise Tonoli et al., 2012 [48] 1 Female Not reported
Lai-Cheong et al., 2012 [49] 1 Male TRPV3 p.Gly573Ser
Lin et al., 2012 [50] 6 5 females, 1 male TRPV3 p.Gly573Ser (4 cases), p.Gly573Cys (1 patient) and p.Trp692Gly (1 case)
Tang et al., 2012 [51] 1 Male Not reported
Attia et al., 2013 [52] 1 Male Not reported
Danso-Abeam et al., 2013 [53] 1 Female TRPV3 p.Gly573Ala
Alotaibi et al., 2014 [54] 1 Male Not reported
Duchatelet et al., 2014a [55] 1 Female TRPV3 p.Leu673Phe
Duchatelet et al., 2014b [56] 2 (brother) Male TRPV3 p.Gly568Cys and p.Gln216_Gly262del
He et al., 2014 [57] 2 (father and son) Male TRPV3 p.Gln580Pro
Kariminejad et al., 2014 [58] 1 Male TRPV3 p.Trp692Cys
Wang et al., 2014 [59] 1 Male MBTPS2 c.671-9 T > G
Total 73 26 Females, 44 Males 14 TRPV3 mutations
2 MBTPS2 mutations