Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report

Table 1 Clinical findings of 11 cases of hidrotic ectodermal dysplasia

No.	Age	Sex	Nail lesion	Alopecia	Keratoderma
Ⅱ1	72	F	+++	++	+++
Ⅲ2	52	F	++	++	+++
Ⅲ4	56	M	+++	+++	+++
Ⅲ6	48	M	+++	+	++
Ⅳ1	28	F	++	+	++
Ⅳ3	23	F	++	+	++
Ⅳ4	32	F	+++	+	++
Ⅳ6	29	F	+++	+	+++
Ⅳ10	27	F	++	+++	++
Ⅴ2	4	F	++	+	+
Ⅴ3	2	F	+	+++	+

No.: Patient No. in the pedigree; F: Female; M: Male; +: Mild lesion; ++: Moderately severe lesion; +++: Severe lesion.

Table 2 Clinical phenotypes corresponding to GJB6 mutations in previously reported families with hereditary hidrotic ectodermal dysplasia

Location (GRCh38)	NM accession number	Mutation locus	Ethnic group	Sex	Hair loss/sparse hair	Nail dysplasia	Palmoplantar hyperkeratosis	Supplementary	Ref.
chr13:20223450	NM_001110219.3	c.31G>A	American	2M/4F	4/6	6/6	1/6	Precedent with eccrine syringofibroadenoma	Poonawalla et al[3], 2009
		c.31G>A	Chinese	4M/4F	8/8	8/8	0/8	/	Chen et al[4], 2010
		c.31G>A	Polish	4M/1F	5/5	5/5	5/5	Inherent immune deficiency combined with skeletal abnormalities	Pietrzak et al[5], 2016
		c.31G>A	Polish	4M/3F	7/7	7/7	7/7	Some patients had hypotonia and delayed motor development	Kutkowska et al[6], 2015
		c.31G>A	Taiwan, Chinese	10M/9F	2/19	19/19	/	Patients presented with rolled nails without nail thickening	Hu et al[7], 2015
		c.31G>A	Chinese	3M/9F	12/12	12/12	12/12	/	Present case, 2022
chr13:20223218	NM_001110219.3	c.263C>T	French	2M/3F	5/5	5/5	5/5	/	Lamartine et al[8], 2000
		c.263C>T	Russians	2M/2F	4/4	4/4	4/4	Precedent with progressive corneal dystrophy	Marakhonov et al[9], 2012
		c.263C>T	Chinese	26M/19F	44/45	42/45	33/45	/	Yang et al[10], 2016
		c.263C>T	Chinese	3M/2F	5/5	5/5	4/5	Two patients with GJB2 (c. 109G>A) mutations	Shi et al[1], 2019
		c.263C>T	Chinese	16M/17F	33/33	33/33	33/33	Proband and her father had hearing impairment	Zhan et al[11], 2020
chr13:20223371	NM_001110219.3	c.110T>A	Scottish	1F	1/1	1/1	/	/	Smith et al[12], 2002

F: Female; M: Male.