Multimodal skin imaging assessment of rare, inherited disorders
Anker Pálma
Clinical Medicine
Dr. Reusz György
SE Bőr-, Nemikórtani és Bőronkológiai Klinika előadóterme
2024-04-12 14:00:00
Dermatology and Venereology
Dr. Sárdy Miklós
Medvecz Márta
Dr. Reismann Péter
Dr. Szlávicz Eszter
Dr. Molnár Mária Judit
Dr. Nagy Géza
Dr. Varga Erika
Although notable advancements have been made in improving the diagnostic methods for genodermatoses, there remains a strong interest in understanding the optical changes in the skin in these conditions. Diseases affecting the fluorophores of the skin can alter its optical properties. Optical imaging modalities are invaluable tools in dermatology for diagnosis, monitoring, and treatment. We assessed a rare case of EI and a cohort of FD patients using MSI and NLM. In the case of EI, the autofluorescence intensity in the thickened skin on the palms was significantly higher than in healthy skin. Using NLM for vertical imaging on fresh frozen EI biopsy samples posed challenges in visualizing the papillary dermis due to the hyperkeratotic epidermis. Nevertheless, NLM provided comprehensive visualization of the epidermal layers. During the assessment of angiokeratomas in FD using MSI, subepidermal blood vessels in the background were more distinguishable, particularly in the 405 nm autofluorescence and 526 nm green channels, compared to dermoscopic images. Papular angiokeratomas exhibited decreased diffuse reflectance signals under 964 nm infrared illumination, while macular angiokeratomas did not display such reduction, potentially due to lesion thickness. Using NLM, we observed notable morphological differences between the angiokeratoma and hemangioma samples. The angiokeratoma showed hyperkeratosis and enlarged blood vessels within the epidermis, whereas the hemangioma lacked hyperkeratosis, and the vasculature extended beyond the epidermis and papillary dermis. In our FD patient cohort, we observed more angiokeratomas compared to the literature data. However, we noticed significant clinical variability in the appearance and distribution of angiokeratomas. Males often presented clusters of angiokeratomas in the bathing suit distribution, while females tended to have solitary angiokeratomas on the trunk and extremities. We evaluated 135 dermoscopic images of angiokeratomas. Dark red lacunae and dot-like vascular structures were the most frequently observed structures, while the whitish veil was present in a considerably lower fraction of cases compared to the literature. Only 38% of patients, mostly males, showed the typical form of ACDU. The majority of patients presented with unconventional forms of ACDU or minimal/no angiokeratomas but displayed other skin signs of FD. These additional skin manifestations can aid the diagnosis even in the absence of characteristic ACDU.
