Table 1.

Clinical features of 10 families presented here

Phenotypes	ED112	ED113	ED129	ED156	ED172	ED178	ED188	ED212	ED236	ED238
Skin
Pigmentation	Hyper/ Hypo	Hyper/ Hypo	Normal	Normal	Hyper	Hyper/Hypo	Normal	Hyper	Hyper	Normal
Blisters	Mild	Mild	−	−	−	Mild	−	Mild	Severe	−
Scares	+	+	−	−	−	+	−	+	+	−
Crust	−	−	−	−	−	−	−	+	−	−
Scales	−	−	Brownish/ Black	White/ Brown	−	−	White/ Brown	−	−	Brown
Photosensitivity	+	+	−	−	+	−	−	+	−	−
Erythroderma	+	+	−	−	−	−	−	−	+	−
Ectropion	−	−	−	−	−	−	+	−	−	−
Nail	Normal	Normal	Normal	Normal	Normal	Small and deformed	Normal	Small and deformed	Onycholysis	Normal
Hair	Normal	Normal	Normal	Normal	Normal	Hair loss from scalp	Normal	Normal	Normal	Normal
Teeth	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Skeletal Structure	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Brachydactyly	Normal	Normal
Hearing	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Vision	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Growth	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Gestation	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal
Mental Health	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Neurodevelopmental delays