Annular epidermolytic ichthyosis: a rare phenotypic variant of bullous congenital ichthyosiform erythroderma

With the provisional differential diagnoses of bullous congenital ichthyosiform erythroderma (BCIE) occurring alone, in combination with erythrokeratoderma, or in combination with with psoriasis, a skin biopsy was taken from the annular plaque and a hyperkeratotic lesion that represented the two mai...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2015-03, Vol.81 (2), p.194-197
Main Authors: Jha, Aditi, Taneja, Jitender, Ramesh, V, Singh, Avninder
Format: Article
Language:English
Subjects:
Adult
Care and treatment
Case studies
Diagnosis
Female
Genetic aspects
Genetic Variation - genetics
Genotype & phenotype
Humans
Hyperkeratosis, Epidermolytic - diagnosis
Hyperkeratosis, Epidermolytic - genetics
Ichthyosis
Infant
Keratin
Male
Microscopy
Mutation
Phenotype
Psoriasis
Skin
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:With the provisional differential diagnoses of bullous congenital ichthyosiform erythroderma (BCIE) occurring alone, in combination with erythrokeratoderma, or in combination with with psoriasis, a skin biopsy was taken from the annular plaque and a hyperkeratotic lesion that represented the two main clinical aspects of the disease. Histological examination showed typical features of epidermolytic hyperkeratosis and molecular analysis revealed a novel dinucleotide mutation within the 2B segment of the keratin 10 gene that was passed on to offspring.
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/0378-6323.152299