Ittiosi congenita tipo III. Un nuovo caso precedentemente diagnosticato come ipercheratosi epidermolitica

Translated title of the contribution: Ichthyosis congenita type III. A new case previously diagnosed as epidermolytic hyperkeratosis

A. Brusasco, L. Restano, G. Tadini

Research output: Contribution to journalArticle

Abstract

We report the case of a 31 year-old man referred to our department with the diagnosis of generalized epidermolytic hyperkeratosis based on a skin biopsy performed 13 years ago showing a marked orthokeratotic hyperkeratosis with church-spire aspects without true foci of epidermolysis. When we visited the patient, he showed a diffused nigricans hyperkeratosis and an impressive reticulated skin pattern on the trunk. The ultrastructural examination on a new punch biopsy revealed the pathognomonic markers of ichthyosis congenita type III: membrane structures in the stratum corneum and stratum granulosum, vesicular keratinosomes and membrane-bound vacuoles in the stratum granulosum. The diagnosis of autosomal recessive ichthyosis congenita dramatically changed the life of the patient, who, according to the previous genetic counseling, had decided not to have children. This case is a further example of the usefulness and reliability of ultrastructural markers in the diagnosis of inherited keratinization disorders.

Original languageItalian
Pages (from-to)47-50
Number of pages4
JournalGiornale Italiano di Dermatologia e Venereologia
Volume132
Issue number1
Publication statusPublished - 1997

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Epidermolytic Hyperkeratosis
Lamellar Ichthyosis
Biopsy
Skin
Membranes
Genetic Counseling
Vacuoles
Cornea
Type 3 lamellar ichthyosis

ASJC Scopus subject areas

  • Dermatology

Cite this

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abstract = "We report the case of a 31 year-old man referred to our department with the diagnosis of generalized epidermolytic hyperkeratosis based on a skin biopsy performed 13 years ago showing a marked orthokeratotic hyperkeratosis with church-spire aspects without true foci of epidermolysis. When we visited the patient, he showed a diffused nigricans hyperkeratosis and an impressive reticulated skin pattern on the trunk. The ultrastructural examination on a new punch biopsy revealed the pathognomonic markers of ichthyosis congenita type III: membrane structures in the stratum corneum and stratum granulosum, vesicular keratinosomes and membrane-bound vacuoles in the stratum granulosum. The diagnosis of autosomal recessive ichthyosis congenita dramatically changed the life of the patient, who, according to the previous genetic counseling, had decided not to have children. This case is a further example of the usefulness and reliability of ultrastructural markers in the diagnosis of inherited keratinization disorders.",
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AU - Brusasco, A.

AU - Restano, L.

AU - Tadini, G.

PY - 1997

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N2 - We report the case of a 31 year-old man referred to our department with the diagnosis of generalized epidermolytic hyperkeratosis based on a skin biopsy performed 13 years ago showing a marked orthokeratotic hyperkeratosis with church-spire aspects without true foci of epidermolysis. When we visited the patient, he showed a diffused nigricans hyperkeratosis and an impressive reticulated skin pattern on the trunk. The ultrastructural examination on a new punch biopsy revealed the pathognomonic markers of ichthyosis congenita type III: membrane structures in the stratum corneum and stratum granulosum, vesicular keratinosomes and membrane-bound vacuoles in the stratum granulosum. The diagnosis of autosomal recessive ichthyosis congenita dramatically changed the life of the patient, who, according to the previous genetic counseling, had decided not to have children. This case is a further example of the usefulness and reliability of ultrastructural markers in the diagnosis of inherited keratinization disorders.

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