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Table 1 Clinical findings in 40 reported cases of ichthyosis with confetti

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
10–29 [13, 15, 18] 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
32 [1, 6, 9, 19] 12 F −/+ +/10 +/+ + + + + + DFL, HES/HHSS, JCF, LL/LNP, P, S, SS/LW, UI KRT10: c.1506_1507delAA, (exon 7), de novo
33 [5, 14, 19] 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)
  1. Most reported clinical findings: CB/CIE colloidon baby/congenital ichthyosiform erythroderma; HSS healthy skin spots; S/HK scaling/hyperkeratosis; EM ear malformation; MH mammillae hypoplasia; PPK palmoplantar keratoderma; DAH dorsal acral hypertrichosis; EE eyelid ectropion; + present; − absent
  2. Additional findings: AU alopecia universalis; DFL decreased finger length (relative to palm). DHL diffuse hair loss; E eclabion; GA gait abnormality due to joint contractions of the limbs; GH generalized hypertrichosis; HES hyperpigmentation on erythrokeratotic skin; HHSS hyperpigmentation in healthy skin spots; JCF joint contractions of the fingers; LL/LNP large lunulae/ long nail plates; N nystagmus; NMSC nonmelanoma skin cancer; P pruritus. PH peripheral hyperreflexia; PR psychomotor retardation; REE reduced eyebrows and eyelashes; S strabismus; SI scalp involvement; SS/LW short stature/ low weight (relative to age); UI unguis inflexus; NR not reported. NP not performed
  3. aCamenzind et al. [1] reported a second IWC patient (patient 32 in Table 1) who was further described by Brusasco et al. [6, 9] and Spoerri et al. [19]
  4. bElbaum et al. [7] and Hendrix et al. [8] reported two patients with a disease classified as MAUIE syndrome that shared almost all clinical findings with IWC
  5. cAdditional clinical data of patients first described by Diociaiuti et al. [17]
  6. dMonozygotic twin sister of patient 35, with a very similar phenotype
  7. eAffected offsprings of patient 37
  8. fMH is visible on published pictures of Marghescu et al. [3] and Krunic et al. [12]
  9. ga 11 years old female was clinically characterized by Long [18]
  10. hsymptoms reported by Choate et al. [15] in a IWC cohort of 20 patients all carrying KRT10 mutations