Table 1 Reported Olmsted syndrome cases in the literature

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