Table 1 Clinical features and TRPV3 genotypes of OS patients.
From: A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome
Origin | Sex | Clinical features | Family history | Genotype |
|---|---|---|---|---|
China | female | Palmoplantar keratosis, constricting digit bands, periorificial keratosis, alopecia, warm-induced pain and itching. | − | c.1717G > A/Wild type |
China | female | Palmoplantar keratosis, periorificial keratosis, alopecia,warm- induced pain and itching. | − | c.1717G > T/Wild type |
China | female | Palmoplantar keratosis, spontaneous digit amputation, periorificial keratosis, alopecia, warm-induced pain and itching. | + | c.1717G > A/Wild type |
China | female | Palmoplantar keratosis, constricting digit bands, spontaneous digit amputation, periorificial keratosis, alopecia, warm-induced pain and itching. | − | c.1717G > A/Wild type |
China | female | Palmoplantar keratosis, constricting digit bands, periorificial keratosis, dry curly hair ,warm- induced pain and itching. | − | c.2074T > G/Wild type |
China | male | Palmoplantar keratosis, constricting digit bands, periorificial keratosis, alopecia, warm-induced pain and itching. | − | c.1717G > A/Wild type |
Iran | male | Palmoplantar keratosis, constricting digit bands, periorificial keratosis, alopecia, warm-induced pain, sparse eyelashes and eyebrows | − | c.2076G > C/Wild type |
Caucasia | male | Palmoplantar keratosis, constricting digit bands, periorificial keratosis, warm-induced pain and itch, frequent bacterial and fungal infections of the skin. | − | c.1718 G > C/Wild type |
India | male | Palmoplantar keratosis, spontaneous digit amputation, periorificial keratosis, warm-induced pain, dry curly hair,dystrophyic nails. | − | c.1717G > A/Wild type |
Israel | male | Palmoplantar keratosis, spontaneous digit amputation, periorificial keratosis, warm-induced pain | − | c.1562 G > C /c.1562 G > C |
France | male | Palmoplantar keratosis, warm-induced pain, fine, curly and dry hair, thin and brittle nails. | − | c. 2017 C > T/Wild type |
France | male | severe plantar keratoderma associated with intense erythromelalgia, itching. | + | c. 1702 G >T/ c.784 + 1G>A. |
France | male | Moderate and focal plantar keratoderma, mild erythromelalgia, xerosis, eczema of the ears and blepharitis associated with the loss of his eyelashes. | + | c. 1702 G > T/c.784 + 1G > A |
China | male | Focal palmoplantar keratosis, mild erythromelalgia | + | c. 2016 G > A/Wild type |
China | female | Focal palmoplantar keratosis with obvious pseudoainhum | + | c. 2016 G > A/Wild type |
China | male | Focal plantar keratoderma, desquamation on the palms | + | c. 2016 G > A/Wild type |
China | male | Focal plantar keratoderma | + | c. 1739 A > C/Wild type |
China | male | Focal plantar keratoderma | + | c. 1739 A > C/Wild type |
