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- Title
An unusual case of keratinopathic ichthyosis: a diagnostic conundrum.
- Authors
Shajil, Chandana; Sathishkumar, Dharshini; Danda, Sumita; Thomas, Meera
- Abstract
Epidermolytic ichthyosis (El) is a rare inherited ichthyosis related to heterozygous mutations in Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate El from other keratinopathic ichthyoses (Kl) in clinical practice. We report an intriguing case of Kl presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10. Through this case, we would like to demonstrate the importance of genetic studies and genotype-phenotype correlation in diagnosing such challenging cases.
- Subjects
ICHTHYOSIS; HETEROZYGOSITY; GENETIC mutation; KERATIN; HISTOPATHOLOGY
- Publication
Dermatology Online Journal, 2021, Vol 27, Issue 6, p1
- ISSN
1087-2108
- Publication type
Article
- DOI
10.5070/D327654054