Table 1.

Molecular and clinical details of cases in this study (novel and recurrent, in bold) compared with previously reported cases.

Family	Mutation - protein change	DNA change	Exon	Keratin domain	Clinical description	Reference
Family 1	p.Leu187Pro	c.560T>C	1	1A	EI, spontaneous case, with a history of blistering, scaling and erythema since birth. As an adult, diffuse hyperkeratosis on trunk, limbs and acral sites.	this study (novel mutation)
	p.Leu187Phe	c.559C>T	1	1A	EI, spontaneous case with erythroderma, erosions, and blisters on the entire body surface at birth and palmoplantar and flexural areas of hyperkeratosis in the later stage.	Ref 5 www.interfil.org
	p.Leu187Phe	c.559C>T	1	1A	EI, spontaneous case, generalized hyperkeratosis involving palms and soles.	Ref 5 www.interfil.org
Family 2	p.Leu485Phe	c.1453C>T	7	2B	PPK - familial case, diffuse PPK with sharp demarcation developed in early childhood.	this study (novel mutation)
	p.Leu485Pro	c.1454T>C	7	2B	Generalised severe EI including PPK (mother, EI naevus).	Ref 6
Family 3	p.Ser233Leu	c.698C>T	2	1B	PPK - familial case with diffuse well-demarcated plantar hyperkeratosis with slightly erythematous borders since infancy. Fissuring hyperkeratosis of the palms and fingertips.	this study (recurrent mutation)
	p.Ser233Leu	c.698C>T	2	1B	EPPK (Vörner type), familial case with diffuse PPK with a well-circumscribed erythematous margin. No hyperkeratosis affecting other body sites.	Ref 5 www.interfil.org
	p.Ser233Leu	c.698C>T	2	1B	EPPK (Vörner type), familial case with diffuse PPK with a well-circumscribed erythematous margin. No hyperkeratosis affecting other body sites.	Ref 5 www.interfil.org
	p.Ser233Leu	c.698C>T	2	1B	EPPK Vörner - familial case with diffuse yellowish hyperkeratosis on palms & soles developed shortly after birth, with a clear border & demarcated by an erythematous rim.	Ref 5 www.interfil.org
	p.Ser233Leu	c.698C>T	2	1B	EPPK Vörner - familial case with diffuse yellowish hyperkeratosis on palms & soles developed shortly after birth, with a clear border & demarcated by an erythematous rim.	Ref 5 www.interfil.org
	p.Ser233Leu	c.698C>T	2	1B	EPPK (Vörner type), developed shortly after birth.	Ref 8
Family 4	p.Gln418_Ile419ins18	c.1254+1G>A	6	2B	PPK - familial case with diffuse palmoplantar hyperkeratosis that developed shortly after birth.	this study (recurrent mutation)
	p.Gln418 Ile419ins18	c.1254+1G>A	6	2B	EPPK - familial case, hyperkeratosis restricted to the palms and soles developed in childhood. Varying severity between family members from patchy plantar keratoderma to confluent plantar keratoderma. A violaceous erythematous border was observed at the edge of the keratoderma in severe cases.	Ref 3
	p.Gln418 Ile419ins18	c.1254+1G>A	6	2B	EPPK - familial case, hyperkeratosis restricted to the palms and soles developed in childhood. Varying severity between family members from patchy plantar keratoderma to confluent plantar keratoderma. A violaceous erythematous border was observed at the edge of the keratoderma in severe cases.	Ref 3
	p.Gln418 Ile419ins18	c.1254+1G>A	6	2B	EPPK - familial case, hyperkeratosis restricted to the palms and soles developed in childhood. Varying severity between family members from patchy plantar keratoderma to confluent plantar keratoderma. A violaceous erythematous border was observed at the edge of the keratoderma in severe cases.	Ref 3