Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI.
*Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;
†Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;
‡Department of Dermatology, Kirov State Medical Academy, Kirov, Russia;
§Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;
¶Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;
‖INSERM UMR 1163, Imagine Institute, University Paris Descartes Sorbonne Cité, Paris, France;
**Department of Genetics, Necker hospital for sick children, APHP, Paris, France;
††Department of Dermatology and Allergology, Ludwig-Maximilian-University, Munich, Germany; and
Departments of ‡‡Pathology,
¶¶Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
Reprints: Eli Sprecher, MD, PhD, Department of Dermatology, Tel Aviv Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel (e-mail: email@example.com).
Supported in part by a donation of the Ram family.
The authors declare no conflicts of interest.