Rahime Inci: New insights into rare hereditary skin diseases
Hereditary skin diseases are rare but can have a significant impact on those affected. Rahime Inci has mapped the prevalence of these conditions in Sweden and explored new diagnostic methods to improve patient care.
RAHIME INCI
Dissertation defense: 25 April 2025 (click for details)
Doctoral thesis: Genodermatoses: Epidemiology and application of advanced laser microscopy techniques
Research area: Dermatology and Venereology
Sahlgrenska Academy, The Institute of Clinical Sciences
Genodermatoses are hereditary skin diseases that present major challenges for both patients and healthcare providers. While each condition is rare, collectively they affect a significant number of people.
Rahime Inci, dermatologist at Sahlgrenska University Hospital and doctoral student at the Institute of Clinical Sciences, has investigated how common these diseases are in Sweden and explored new diagnostic techniques.
“We identified 73 different genodermatoses and were able to provide a more accurate picture of their prevalence in Sweden,” says Rahime Inci.
Increased risk of skin cancer
The study shows that porokeratosis and Darier’s disease are among the most common genodermatoses in Sweden. (See fact box about these two conditions below.)
An important finding was that porokeratoses were associated with an increased risk of developing skin cancer.
Additionally, patients with Darier’s disease had an increased risk of keratinocyte cancer (basal cell carcinoma and squamous cell carcinoma). This was observed in comparison with a control group ten times larger.
“We were able to confirm this increased risk of skin cancer through analyses of national registry data, and it is important that both patients and healthcare providers are made aware of this association,” says Rahime Inci.
New diagnostic tools
One of the studies in the thesis evaluated how laser microscopy techniques can be used for diagnosis. Reflectance confocal microscopy (RCM) and multiphoton microscopy (MPM) were compared with traditional histopathology. (See fact box below.)
“Our results suggest that these methods could be promising alternatives for fast and non-invasive diagnosis (examination without removing tissue) of porokeratosis,” says Rahime Inci.
New insights for clinical practice
The precise data on the prevalence of genodermatoses in Sweden provided in the thesis may be valuable for both patient consultations and the scientific community.
“We hope that these findings will contribute to better follow-up and diagnosis. Since some of these conditions carry an increased risk of skin cancer, it is especially important to spread awareness,” says Rahime Inci.
The opportunity to combine research with clinical work has been a strong motivation for Rahime Inci during her doctoral studies.
“The entire process has been both rewarding and educational. I have gained new perspectives and applied my research directly in the genodermatosis clinic. The biggest challenge has been working with large register data and learning these new microscopy techniques.”
Text: Jakob Lundberg
Porokeratoses are a group of rare skin disorders that cause ring-shaped, raised lesions. Some forms are inherited, while others occur spontaneously. The lesions may be scaly, irritated, and painful in sunlight.
Darier’s disease is an inherited skin disorder that causes greasy, firm bumps in skin folds, such as the armpits and groin. The lesions can have an unpleasant odor and become infected.
Three techniques for examining skin
Reflectance confocal microscopy (RCM) is an imaging technique that allows detailed examination of living skin without removing tissue.
Multiphoton microscopy (MPM) is a more advanced method that produces deeper images and shows multiple structures at the same time.
Histopathology is the traditional technique where a skin sample (biopsy) is removed, stained, and examined under a microscope.