Table 2 Summary of all previously reported HVP cases

[32]

M

2 y

7 y

Seizures, delayed developmental milestones, learning disability, tremor

Blisters, hyperpigmentation, photosensitivity

Brachydactyly, short stature, aggressive behavior

n. i.

Severely delayed myelination

Homozygous, c.1072G > A, p.G358R

[1]

F

2 m

3 y

Seizures, nystagmus, developmental delay

Blisters, photosensitivity (at 6 m)

Brachydactyly

Yes

n. i.

Homozygous, p.Glu339Lys

[1]

M

n. i.

16 y

Seizures, severe developmental delay

Severe photosensitivity, multiple wounds

Amputation of fingers

Yes

n. i.

Homozygous, p.Glu339Lys

[29]

M

n. i.

n. i.

n. i.

Hyperpigmentation, blisters, photosensitivity

Brachydactyly

n. i.

n. i.

Homozygous, c.502C > T; (p.Arg168Cys)

[29]

M

n. i.

n. i.

n. i.

Hyperpigmentation, blisters, photosensitivity

Brachydactyly

n. i.

n. i.

Homozygous, c.502C > T; (p.Arg168Cys)

[25]

M

2 m

4 y

Nystagmus (at 2 m), developmental delay, truncal ataxia, intention tremor, microcephalia

Photosensitivity (at 2 y)

Brachydactyly

Yes

Hypo-myelination (at 18 + 24 month)

Compound heterozygous,

c.169G > C (p.Gly57Arg)/c.1259C > G (p.Pro420Arg)

[26]

M

6 m

7 y

No

Severe photosensitivity (at 6 m)

Brachydactyly, growth retardation, short stature

Yes

n. i.

Compound heterozygous, G232S/

1330delCT

[5]

F

19 y

26 y

No

Photomutilitation of the fingers

19 y: acute porphyric crisis

Yes

n. i.

Compound heterozygous, R59W/R138P

[5]

F

10 m

7 y

Nystagmus, sensory neuropathy, poor concentration

Photosensitivity (at 10 m)

brachydactyly, myopia

Yes

n. i.

Compound heterozygous, R59W/Y348C

[28]

M

8 m

16 y

No

Skin lesions

Clinodactyly

n. i.

n. i.

Homozygous,

c.1046A > C (D349A)

[11] (clinical), [28] (genetics)

M

5 m

16 y

Seizures (at 5 m), developmental delay, nystagmus, intellectual disability

Skin lesions, blistering

Growth retardation, clinodactyly

Yes

n. i.

Homozygous,

c.1297G > C (A433P)

[20] (clinical),

[14] (genetics)

M

 < 1 m

5 y

Ssensory polyneuropathy, mild developmental delay

Photosensitivity, severe bullous skin disease (first days of life)

Brachydactyly, IgA nephropathy, increased intraocular pressure

Yes

n. i.

Compound heterozygous,

c.35T > C (I12T)/c.767C > G (P256R)

[19] (clinical), [28] (genetics)

F

9 m

33 y

One febrile convulsion (at 3—4 y), normal intelligence

Photosensitivity (at 9 m)

Short stature, brachydactyly, clinodactyly

Yes

No

Compound heterozygous,

c.657–658 ins AAGGCCAGCGCC

(A219KANA)/vs 11-11T > G

(mutIntron11) **

[16] (clinical),

[28] (genetics)

M

 < 1 m

6 y

Nystagmus (at 2 m), convulsions (at 4 m), intellectual disability

Severe skin lesions (first days of life)

Growth retardation, clinodactyly

Yes

n. i.

Compound heterozygous, c.1072G > A (G358R)/

IVS7 + 1 del 18 bp (SD mutdelEx7)

[16]

F

 < 1 m

8 m

Mild nystagmus (at 3 weeks), developmental delay (at 8 m), convulsions

Severe skin lesions (first days of life)

n. i.

Yes

n. i.

n. i. (sibling of child above)

[21] (clinical),

[28] (genetics) *

F

18 m

14 y

Two convulsions during first y of life, intellectual disability

Photosensitivity, blisters, crusts and erosions (at 18 m)

Clinodactyly, normal growth

Yes

n. i.

Compound heterozygous,

c.505G > A (G169E)/c.1072G > A (G358R)

New cases of HVP

F

1 day of life

7 y

Nystagmus, developmental delay, seizures

Blistering, photosensitivity, skin lesions

Hepatopathy in the neonatal period, short stature, microcephaly, joint contractures, brachydactyly

Yes

Hypomyelination

Homozygous c.164 > C (p.Glu55Ala)

M

First years of life

14 y

Nystagmus, developmental delay, seizures

Skin lesions, photosensitivity

Short stature, microcephaly, joint contractures, brachydactyly

Yes

Hypomyelination

Homozygous c.164 > C (p.Glu55Ala)