Stručni rad
Dystrophic Epidermolysis Bullosa Inversa – Case Report and Review of the Literature
Eva Klara Merzel Šabović
; Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia
Boštjan Luzar
; Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
Karmen Wechtersbach
; Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia
Mateja Dolenc-Voljč
; Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia
Sažetak
Dystrophic epidermolysis bullosa inversa is a very rare subtype
of inherited dystrophic epidermolysis bullosa with a unique clinical manifes-
tation. Generalized blistering in the neonatal period and in early infancy im-
proves with age, with lesions becoming restricted to intertriginous areas, axial
parts of the trunk, and mucous membranes. In contrast to other variants of
dystrophic epidermolysis bullosa, the inverse type has a more favorable prog-
nosis. We present a case of a 45-year-old female patient with dystrophic epi-
dermolysis bullosa inversa, diagnosed in adulthood based on typical clinical
presentation, transmission electron microscopic findings, and genetic analy-
sis. Additionally, genetic analysis revealed that the patient also suffered from
Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy. To
our knowledge, the coexistence of these two genetic diseases has not been
reported so far. We describe clinical and genetic findings in the patient and re-
view previous reports on dystrophic epidermolysis bullosa inversa. A possible
temperature-related pathophysiology for the peculiar clinical manifestation is
discussed.
Ključne riječi
Hrčak ID:
299632
URI
Datum izdavanja:
14.9.2022.
Posjeta: 687 *