Abstract
Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
Original language | English |
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Pages (from-to) | 143-146 |
Number of pages | 4 |
Journal | Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion |
Volume | 68 |
Issue number | 3 |
Publication status | Published - 1 May 2016 |
Externally published | Yes |
Bibliographical note
Copyright:This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
All Science Journal Classification (ASJC) codes
- General Medicine