From: Ichthyosis with confetti: clinics, molecular genetics and management
Case (Ref) | Age at first report, ys | Sex | CB/CIE at birth | HSS/age at detection, ys | S/HK | EM | MH | PPK | DAH | EE | Additional findings | Molecular analysis |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a1 [1] | 14 | M | −/+ | +/8 | +/NR | NR | NR | NR | NR | NR | SS | NP |
2 [3] | 57 | F | −/+ | +/NR | +/+ | NR | f+ | + | NR | NR | HES, LNP, UI | NP |
b3 [7] | 17 | M | −/+ | +/since birth | +/NR | + | NR | - | - | + | AU, E, NMSC | NP |
b4 [8] | 30 | F | −/+ | +/NR | +/NR | + | NR | - | - | + | AU, NMSC | NP |
5 [10] | 8 | F | −/+ | +/years after | +/NR | NR | NR | + | + | NR | NR | NP |
6 [11] | 8 | F | −/+ | +/6 | +/NR | NR | NR | + | + | + | DHL, P | NP |
7 [12] | 32 | M | −/+ | +/10 | +/+ | NR | f+ | + | NR | NR | P | NP |
c8 [17] | 3 | F | +/+ | +/2.5 | +/+ | + | c+ | + | + | + | GA, GH, JCF, cLL/LNP, P, PR, SI, SS/LW, cUI | KRT10: c.1383_1414del32 (exon 7), de novo |
c9 [17] | 6 | M | +/+ | +/5 | +/+ | + | c+ | + | + | + | GA, JCF, cLNP, P, cSI, SS/LW, cUI | KRT10: c.1374-1G > C (intron 6), de novo |
18, 42, g11, NR:17 | g1F, 4 F 5 M NR:10 | g+/+ NR:19 | g+/8 NR:19 | g+/+ NR:19 | g + NR:19 | NR | g + NR:19 | NR | NR | hGA:8, gJCF, hNMSC:3, hPH:4, gUI | KRT10: | |
c.1374-2A > G (intron 6), de novo | ||||||||||||
c.1374-2delA (intron 6), de novo | ||||||||||||
c.1374-1G > A (intron 6), de novo | ||||||||||||
c.1373 + 1G > A (intron 6) | ||||||||||||
c.1369G > T (exon 6), de novo | ||||||||||||
c.1450insC (exon 7), de novo | ||||||||||||
c.1560delCG (exon 7) | ||||||||||||
NR: 13 KRT10 mutationsh | ||||||||||||
30 [19] | Child | F | +/+ | +/7 | +/NR | + | + | + | + | + | LL/LNP, P, REE, SI, SS/LW, UI | KRT10: c.1374-1G > A (intron 6), de novo |
31 [19] | Young adult | M | +/+ | +/12-13 | +/NR | + | + | - | + | + | HHSS, LL/LNP, N, REE, S, SI, SS/LW | KRT10: c.1374-1G > C (intron 6), de novo |
12 | F | −/+ | +/10 | +/+ | + | + | + | + | + | DFL, HES/HHSS, JCF, LL/LNP, P, S, SS/LW, UI | KRT10: c.1506_1507delAA, (exon 7), de novo | |
5 | F | −/+ | +/8 | +/NR | + | + | + | + | + | DFL, HHSS, JCF, LL/LNP, N, P, REE, S, SS/LW, UI | KRT10: c.1546_1551delinsT (exon 7), de novo | |
34 [19] | Child | F | +/+ | +/7 | +/NR | + | + | + | + | - | SS/LW | KRT10: c.1557_1558delCG (exon 7), de novo |
35 [19] | Young adult | F | +/+ | +/12-14 | +/NR | NI | + | + | + | - | DFL, HHSS, LL/LNP, SS/LW, UI | KRT10: c.1573_1574dupA (exon 7), de novo |
d36 [19] | Young adult | F | NR | NR | NR | NR | NR | NR | NR | NR | NR | KRT10: c.1573_1574dupA (exon 7), de novo |
37 [16] | 35 | M | −/+ | +/22 | NR | NR | NR | + | NR | NR | NR | KRT1: c.1886insG (exon 9), de novo |
e38–40 [16] | 3 to 9 | M | −/+ | - | NR | NR | NR | + | NR | NR | NR | KRT1: c.1886insG (exon 9) |