First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. Study Population
4.2. Molecular Genetic Diagnosis
4.3. Ethics Statement
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
Abbreviations
CRIE | Congenital reticular ichthyosiform erythroderma |
EI | Epidermolytic ichthyosis |
EN | Epidermolytic nevus |
K1 | Keratin 1 |
K2 | Keratin 2 |
K10 | Keratin 10 |
KI | Keratinopathic ichthyoses |
NGS | Next generation sequencing |
SEI | Superficial epidermolytic ichthyosis |
TEM | Transmission electron microscopy |
References
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Pt N * | Sex | Age ° | Family History | Gene and Mutation (cDNA and Protein) | Diagnosis | Skin Phenotype | PPK ” | Hypertrichosis | Hypohidrosis | Itching | Growth Delay |
---|---|---|---|---|---|---|---|---|---|---|---|
01 | M ** | 21 yrs. | Yes (mother pt 3, sister pt 2) | °° KRT1: c.1792dupA; p.Ser598Lysfs*56 | EI § | Onset at birth; focal hyperkeratosis marked at joints; face erythema | Yes | Yes | No | No | No |
02 | F *** | 19 yrs. | Yes (mother pt 3, brother pt 1) | KRT1: c.1792dupA; p.Ser598Lysfs*56 | EI | Onset at birth; focal hyperkeratosis marked at joints; minimal face erythema | Yes | Yes | No | No | No |
03 | F | 53 yrs. | Yes (daughter pt 2, son pt 1) | KRT1: c.1792dupA; p.Ser598Lysfs*56 | EI | Onset at 6 mo °°°; focal hyperkeratosis | Yes | No | No | No | No |
04 | F | 7 yrs. | Yes (father) | KRT1: c.1319C > T; p.Ala440Val | EI | First mo: erosions and desquamation; then progressive focal hyperkeratosis | Yes | No | No | Yes | No |
05 | M | 7 mo | Yes (mother pt 6) | KRT1: c.531G > T; p.Lys177Asn | EI | Birth: erythroderma, superficial blisters, and desquamation; then localized mild hyperkeratosis and few erosions | Yes | Yes | No | No | No |
06 | F | 32 yrs. | Yes (son pt 5) | KRT1: c.531G > T; p.Lys177Asn | EI | Birth: erythroderma, superficial blisters, and desquamation; then localized mild hyperkeratosis | Yes | Yes | Yes | No | No |
07 | M | 34 yrs. | Negative | KRT1: c. 563A > G; p.Asn188Ser | EI | Birth: erythroderma, superficial blisters, and desquamation; then erythema, adherent hyperkeratosis, and erosions | Yes | Yes | NK ^ | Yes | No |
08 | F | 9 yrs. | Negative | KRT10: c.467G > A; p.Arg156His | EI | Birth: erythroderma, blisters, erosions; then diffuse hyperkeratosis marked at joints | No | No | Yes | Yes | No |
09 | F | 30 yrs. | Negative | KRT10: c.466C > T; p.Arg156Cys | EI | Birth: erythroderma, blisters, erosions; then diffuse hyperkeratosis marked at joints | No | Yes | Yes | No | No |
10 | F | 6 mo | Yes (mother pt 11) | KRT10: c.1346A > G; p.Tyr449Cys | EI | Two days: blisters, erosions, and mild erythema; infancy lamellar desquamation | No | No | NK | NK | No |
11 | F | 31 yrs. | Yes (daughter pt 10) | KRT10: c.1346A > G; p.Tyr449Cys | EI | First month: blisters, erosions and mild erythema; adulthood: mild focal hyperkeratosis (joints) | No | No | NK | No | No |
12 | M | 1 mo | Negative | KRT10: c.466C > T; p.Arg156Cys | EI | Birth: erythroderma, blisters, erosions; then marked, adherent, and diffuse hyperkeratosis, erosions and erythema | No | No | NK | Yes | Yes |
13 | M | 3 mo | Negative | KRT10: c.461A > G; p.Asn154Ser | EI | Birth: erythroderma, blisters, erosions; then marked, adherent, and diffuse hyperkeratosis, erosions and erythema | Yes | Yes | NK | Yes | Yes |
14 | M | 1 mo | Yes (mother pt 15) | KRT10: c.466C > T; p.Arg156Cys | EI | Birth: erythroderma, blisters, erosions; then marked, adherent, and diffuse hyperkeratosis, erosions and erythema | No | Yes | Yes | Yes | Yes |
15 | F | 42 yrs. | Yes (son pt 14) | KRT10: c.466C > T; p.Arg156Cys | EN §§ | Birth: blaschkoid hyperkeratosis and erosions | No | No | Yes | Yes | No |
16 | F | 40 yrs. | Negative | KRT10: c.467G > A; p.Arg156His | EI | Birth: erythroderma, blisters, erosions; then adherent and diffuse hyperkeratosis, erosions more evident on the limbs | No | NK | NK | Yes | No |
17 | F | 7 yrs. | Negative | KRT10: c.466C > T; p.Arg156Cys (on skin: 18%) | EN | 2 mo: monolateral blaschkoid hyperkeratosis, hypopigmentation, and erosions | No | No | No | No | No |
18 | F | 4 mo | Negative | Not performed | EI | Birth: erythroderma, blisters, erosions; infancy: diffuse desquamation, hyperkeratosis, erosions, and erythema | Yes | No | NK | Yes | Yes |
19 | M | 2 mo | Negative | KRT10: c.1374-1G > C; p.Ser458Argfs*120 | CRIE §§§ | Birth: collodion baby; then: ichthyosiform erythroderma; normal skin areas from 5 years | Yes | Yes | Yes | Yes | Yes |
20 | F | 2 mo | Negative | KRT10: c.1383_1414del32; p.Gly462Leufs*108 | CRIE | Birth: collodion baby; then: ichthyosiform erythroderma; normal skin areas from 2.5 years; psychomotor delay | Yes | Yes | Yes | Yes | yes |
21 | M | 5 yrs. | Negative | KRT2: c.1459G > A; p.Glu487Lys | SEI §§§§ | 4 mo: blisters, erosions and superficial desquamation; then mild localized erythema, hyperkeratosis mainly at buttocks and limbs | No | Yes | Yes | Yes | No |
22 | F | 27 yrs. | Yes (mother) | KRT2: c.561_563delCAA; p.Asn187del | SEI | 2 mo: erosions and superficial desquamation; then hyperkeratosis mainly at limbs | Yes (focal) | Yes | No | Yes | No |
23 | M | 7 yrs. | Yes (brother pt 24, father pt 25) | KRT2: c.1459G > A; p.Glu487Lys | SEI | 18 mo: erosions and superficial desquamation; then hyperkeratosis on lower limbs, elbows and buttocks, migrating erythematous brownish patches and superficial desquamation | No | Yes | No | Yes | No |
24 | M | 7 yrs. | Yes (brother pt 23, father pt 25) | KRT2: c.1459G > A; p.Glu487Lys | SEI | 18 mo: erosions and superficial desquamation; then mild and localized hyperkeratosis on feet, knees, and elbows, with focal superficial desquamation | No | Yes | No | Yes | No |
25 | M | 43 yrs. | Yes (both sons, pts 23 and 24) | KRT2: c.1459G > A; p.Glu487Lys | SEI | Childhood: erosions and superficial desquamation; then focal hyperkeratosis on limbs and superficial desquamation | No | Yes | No | Yes | No |
26 | M | 3 yrs. | Negative | KRT2: c.556A > G; p.Asn186Asp | EN | 6 mo: blaschkoid hypochromic streaks on the lower limbs, then blaschkoid brownish hyperkeratosis on the inguinal and infragluteal folds, and less marked on axillae, elbows, knees, and foot dorsum | No | No | No | No | No |
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Diociaiuti, A.; Castiglia, D.; Corbeddu, M.; Rotunno, R.; Rossi, S.; Pisaneschi, E.; Cesario, C.; Condorelli, A.G.; Zambruno, G.; El Hachem, M. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int. J. Mol. Sci. 2020, 21, 7707. https://doi.org/10.3390/ijms21207707
Diociaiuti A, Castiglia D, Corbeddu M, Rotunno R, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Zambruno G, El Hachem M. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. International Journal of Molecular Sciences. 2020; 21(20):7707. https://doi.org/10.3390/ijms21207707
Chicago/Turabian StyleDiociaiuti, Andrea, Daniele Castiglia, Marialuisa Corbeddu, Roberta Rotunno, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Giovanna Zambruno, and May El Hachem. 2020. "First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses" International Journal of Molecular Sciences 21, no. 20: 7707. https://doi.org/10.3390/ijms21207707