Inherited distubances in skin structure and its function are the main cause of 
diseases classified as genodermatoses. The following clinical entities are 
classified as genodermatoses: epidermolysis bullosa, keratotic disorders, 
disorders of skin color, ectodermal genodermatoses, genodermatoses associated 
with connective tissue, vascular genodermatoses and genodermatoses with skin 
manifestation and elevated cancer risk. One of the most clinically heterogenous 
group of genodermatoses, is epidermolysis bullosa. Four main subtypes were 
described: simplex, dystrophic, junctional and Kindler syndrome. These diseases 
are caused by mutations in the genes encoding proteins forming junctions between 
the dermis and epidermis (eg. COL7A1, COL17A1, KRT14, KRT5 or genes coding for 
332 laminin). They are inherited in an autosomal recessive or dominant manner. 
The disease that is inherited as a dominant, sex dependent trait, is 
incontinenia pigmenti (Bloch-Sulzberger syndrome) characterized by the presence 
of extensive pigmentation changes already in the neonatal period. In patients 
with incontinenia pigmenti, mutations in the NEMO gene are found. The protein 
encoded by NEMO is involved in the negative regulation of activity of the NFκB 
transcription factor that is responsible for apoptosis and cell proliferation 
control. In the regulation of cell proliferation, the neurofibromin (NF1) - the 
suppressor of RAS/MAPK signaling pathway activity, is also involved. The 
mutations in the NF1 gene are identified in neurofibromatosis type I - a 
genodermatosis with higher risk of cancer development and tumor formation. 
Herein, a review of selected genodermatoses in the context of their molecular 
pathology is presented.