Introduction
Methods
Literature review
Review
Disease name and synonyms
Definition
Epidemiology
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 |
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 |
1 | Male | Not reported | |
Lucker et al., 1994 [18] | 1 | Male | Not reported |
Cambiaghi et al., 1995 [19] | 2 (twins) | Male | Not reported |
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 |
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 |
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 |
Clinical description
Skin
Pain and itching
Hair and nails
Oral cavity
Sweating
Eye
Growth
Recurrent infections
Immunity
Predisposition to malignancies
Teeth
Hearing
Bone
Other abnormalities
Aetiology
Genetics
Pathogenesis
Diagnosis and diagnostic methods
Differential diagnosis
Disease
|
Gene
|
Mode of inheritance
|
---|---|---|
Vohwinkel syndrome |
GJB2, LOR
| Autosomal dominant |
Mal de Meleda |
SLURP1
| Autosomal recessive |
Papillon-Lefèvre syndrome |
CTSC
| Autosomal recessive |
Clouston syndrome |
GJB6
| Autosomal dominant |
Pachyonychia congenita |
KRT6A, KRT6B, KRT16 and KRT17
| Autosomal dominant |
Tyrosinemia type II |
TAT
| Autosomal recessive |
Haim-Munk syndrome |
CTSC
| Autosomal recessive |
Acrodermatitis enteropathica |
SLC39A4
| Autosomal recessive |