Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10

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Abstract

Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diag-nosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having congenital ichthyosiform erythro-derma. However, the development of thick, confluent hyperkeratotic plaques together with the histopathological finding of keratinocyte vacuolisation in the suprabasal epidermis evoked IC. Immunofluorescence analysis showed a highly reduced keratin 10 expression within the cytoplasm of suprabasal keratinocytes and its characteristic mislocalisation to the nuclei. The diagnosis was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. Careful clinical examination then showed the presence of the first spots of normal skin in both patients at the age of 2.5 and 5 years, respectively. These cases point to the usefulness of immunofluorescence analysis of keratin 10 expression for an early diagnosis of IC.

Original languageEnglish
Pages (from-to)579-582
Number of pages4
JournalActa Dermato-Venereologica
Volume94
Issue number5
DOIs
Publication statusPublished - 2014

Fingerprint

Keratin-10
Ichthyosis
early diagnosis
Early Diagnosis
Mutation
scaling
adulthood
adolescence
Keratinocytes
Fluorescent Antibody Technique
Disease
examination
Exfoliative Dermatitis
Skin
Epidermis
Introns
Exons
Cytoplasm
Keratin
Parturition

Keywords

  • Congenital reticular ichthyosiform erythroderma
  • De novomutations
  • Ichthyosis variegata
  • KRT10

ASJC Scopus subject areas

  • Dermatology
  • Medicine(all)

Cite this

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title = "Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10",
abstract = "Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diag-nosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having congenital ichthyosiform erythro-derma. However, the development of thick, confluent hyperkeratotic plaques together with the histopathological finding of keratinocyte vacuolisation in the suprabasal epidermis evoked IC. Immunofluorescence analysis showed a highly reduced keratin 10 expression within the cytoplasm of suprabasal keratinocytes and its characteristic mislocalisation to the nuclei. The diagnosis was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. Careful clinical examination then showed the presence of the first spots of normal skin in both patients at the age of 2.5 and 5 years, respectively. These cases point to the usefulness of immunofluorescence analysis of keratin 10 expression for an early diagnosis of IC.",
keywords = "Congenital reticular ichthyosiform erythroderma, De novomutations, Ichthyosis variegata, KRT10",
author = "Andrea Diociaiuti and Paola Fortugno and {El Hachem}, May and Corrado Angelo and Vittoria Proto and {De Luca}, Naomi and Diego Martinelli and Renata Boldrini and Daniele Castiglia and Giovanna Zambruno",
year = "2014",
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language = "English",
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TY - JOUR

T1 - Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10

AU - Diociaiuti, Andrea

AU - Fortugno, Paola

AU - El Hachem, May

AU - Angelo, Corrado

AU - Proto, Vittoria

AU - De Luca, Naomi

AU - Martinelli, Diego

AU - Boldrini, Renata

AU - Castiglia, Daniele

AU - Zambruno, Giovanna

PY - 2014

Y1 - 2014

N2 - Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diag-nosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having congenital ichthyosiform erythro-derma. However, the development of thick, confluent hyperkeratotic plaques together with the histopathological finding of keratinocyte vacuolisation in the suprabasal epidermis evoked IC. Immunofluorescence analysis showed a highly reduced keratin 10 expression within the cytoplasm of suprabasal keratinocytes and its characteristic mislocalisation to the nuclei. The diagnosis was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. Careful clinical examination then showed the presence of the first spots of normal skin in both patients at the age of 2.5 and 5 years, respectively. These cases point to the usefulness of immunofluorescence analysis of keratin 10 expression for an early diagnosis of IC.

AB - Ichthyosis with confetti (IC) is a severe non-syndromic ichthyosis due to heterozygous mutations in the KRT10 gene. The disease manifests at birth with erythroderma and scaling and is characterised by the gradual development of numerous confetti-like spots of normal skin. Diag-nosis of IC is frequently delayed until adolescence or even adulthood. We report 2 young children who were first diagnosed as having congenital ichthyosiform erythro-derma. However, the development of thick, confluent hyperkeratotic plaques together with the histopathological finding of keratinocyte vacuolisation in the suprabasal epidermis evoked IC. Immunofluorescence analysis showed a highly reduced keratin 10 expression within the cytoplasm of suprabasal keratinocytes and its characteristic mislocalisation to the nuclei. The diagnosis was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. Careful clinical examination then showed the presence of the first spots of normal skin in both patients at the age of 2.5 and 5 years, respectively. These cases point to the usefulness of immunofluorescence analysis of keratin 10 expression for an early diagnosis of IC.

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