Ichthyosis with confetti: clinics, molecular genetics and management

Guerra, Liliana; Diociaiuti, Andrea; El Hachem, May; Castiglia, Daniele; Zambruno, Giovanna

doi:10.1186/s13023-015-0336-4

Orphanet Journal of Rare Diseases

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 mutations^h
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)

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
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
^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]
^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
^cAdditional clinical data of patients first described by Diociaiuti et al. [17]
^dMonozygotic twin sister of patient 35, with a very similar phenotype
^eAffected offsprings of patient 37
^fMH is visible on published pictures of Marghescu et al. [3] and Krunic et al. [12]
^ga 11 years old female was clinically characterized by Long [18]
^hsymptoms reported by Choate et al. [15] in a IWC cohort of 20 patients all carrying KRT10 mutations

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ISSN: 1750-1172

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