Abstract
Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.1 Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins.2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.4-6
| Original language | English |
|---|---|
| Pages (from-to) | 1384-1387 |
| Number of pages | 4 |
| Journal | British Journal of Dermatology |
| Volume | 162 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2010 |
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Keywords
- Bullous congenital ichthyosiform erythroderma
- Consanguinity
- Cryptic splicing
- Epidermolytic hyperkeratosis
- Mutation detection
- Recurrence risk
ASJC Scopus subject areas
- Dermatology
Cite this
Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. / Covaciu, C.; Castori, M.; De Luca, N.; Ghirri, P.; Nannipieri, A.; Ragone, G.; Zambruno, G.; Castiglia, D.
In: British Journal of Dermatology, Vol. 162, No. 6, 06.2010, p. 1384-1387.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
AU - Covaciu, C.
AU - Castori, M.
AU - De Luca, N.
AU - Ghirri, P.
AU - Nannipieri, A.
AU - Ragone, G.
AU - Zambruno, G.
AU - Castiglia, D.
PY - 2010/6
Y1 - 2010/6
N2 - Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.1 Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins.2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.4-6
AB - Epidermolytic ichthyosis (EI; MIM 113800), previously named bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling and easily breaking blisters that become less frequent later in life while hyperkeratosis increases.1 EI is caused by dominant mutations in either KRT1 or KRT10, encoding keratin 1 (K1) and keratin 10 (K10), respectively.1 Usually, mutations are missense substitutions into the highly conserved α-helical rod domains of the proteins.2,3 However, three inbred pedigrees in which EI is transmitted as a recessive trait due to KRT10 null mutations have been described.4-6
KW - Bullous congenital ichthyosiform erythroderma
KW - Consanguinity
KW - Cryptic splicing
KW - Epidermolytic hyperkeratosis
KW - Mutation detection
KW - Recurrence risk
UR - http://www.scopus.com/inward/record.url?scp=77952712242&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77952712242&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2133.2010.09665.x
DO - 10.1111/j.1365-2133.2010.09665.x
M3 - Article
C2 - 20302579
AN - SCOPUS:77952712242
VL - 162
SP - 1384
EP - 1387
JO - British Journal of Dermatology
JF - British Journal of Dermatology
SN - 0007-0963
IS - 6
ER -