Abstract
Kindler Syndrome (KS) is a rare condition that often mimics dyskeratosis congenita and needs to be distinguished from it. KS primarily occurs due to "loss of function" mutations in the FERMT1 gene, with an autosomal recessive inheritance pattern. The characteristic histological feature of KS is attenuated keratinocyte proliferation. The disease phenotype includes trauma-induced acral blisters, premature aging, and progressive bullous poikiloderma. Other features include hyperpigmentation, hypopigmentation, increased photosensitivity, and associated nail dystrophy. The management of KS is symptomatic, and genetic counseling is important due to the high incidence of parental consanguinity.
Publication details
- DOI
- 10.5001/omj.2014.37
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Kapoor, S. (2014). Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities. Oman Medical Journal. https://doi.org/10.5001/omj.2014.37
MLA 9
Kapoor, Shailendra. "Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities." Oman Medical Journal, 2014. https://doi.org/10.5001/omj.2014.37.
Chicago (author–date)
Kapoor, Shailendra. 2014. "Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities." Oman Medical Journal. https://doi.org/10.5001/omj.2014.37.
Harvard
Kapoor, S. (2014) 'Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities', Oman Medical Journal. doi:10.5001/omj.2014.37.
Vancouver
Kapoor S. Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities. Oman Medical Journal. 2014. doi:10.5001/omj.2014.37
IEEE
S. Kapoor, "Kindler Syndrome: A Close Mimic of Dyskeratosis Congenita and the Need to Distinguish the Two Clinical Entities," Oman Medical Journal, 2014, doi: 10.5001/omj.2014.37.