Table 1.

The phenotypic spectrum of cutaneous findings in the diseases with GJB2 mutations.^*

NO.	Phenotype	OMIM #	Inheritance	SNHL	Spinyhyperkeratosis†	Knuckle pads	PPK†	Leukonychia	Alopecia	Keratitis	Pseudoainhum	Reference
Germline
1	Current Family	-	AR	Y	Y(Gen)	N	N	Y	N	N	N
2	Bart-Pumphrey syndrome	149200	AD	Y	N	Y	Y	Y	Y	N	N	Richard et al.(Richard, Brown, Ishida-Yamamoto, & Krol, 2004)
3	Deafness, autosomal dominant 3A	601544	AD	Y	N	N	N	N	N	N	N	Kelsell et al.(Kelsell et al., 1997)
4	Deafness, autosomal recessive 1A	220290	AR	Y	N	N	N	N	N	N	N	Brown et al.(Brown et al., 1996)
5	Hystrix-like ichthyosis with deafness	602540	AD	Y	Y(Loc)	N	N	Y	Y	Y	N	van Geel et al.(van Geel et al., 2002)
6	Keratitis-ichthyosis-deafness syndrome	148210	AD	Y	N	N	Y	Y	Y	Y	N	Richard et al.(Richard et al., 2002)
7	Keratoderma, palmoplantar, with deafness	148350	AD	Y	N	N	Y	Y	Y	Y	N	Brown et al.52
8	Vohwinkel syndrome	124500	AD	Y	N	Y	Y	N	Y	Y	Y	Maestrini et al.(Maestrini et al., 1999)
Mosaic
9	Porokeratotic eccrine ostial and dermal duct nevus (PEODDN)	-	Mosaic	N	Y (Loc)	N	N	N	N/A	N	N	Easton et al.(Easton et al., 2012)
10	Spiny Hyperkeratosis without Eccrine Involvement	-	Mosaic	N	Y (Loc)	N	N	N	N	N	N	Eskin-Schwartz et al.(Eskin-Schwartz et al., 2016)

^*The clinical findings are according to https://www.omim.org and literature review.

^†Gen, generalized; Loc, localized; PPK, palmoplantar keratoderma; SNHL, sensorineural hearing loss.