Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a
cutaneous condition
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this sys ...
characterized by trauma-induced
blisters
A blister is a small pocket of body fluid (lymph, Serum (blood), serum, Plasma (blood), plasma, blood, or pus) within the Epidermis, upper layers of the skin, usually caused by forceful rubbing (friction), burning, freezing, chemical exposure o ...
and erosions.
It is associated with ''
PKP1''.
See also
*
List of conditions caused by problems with junctional proteins
References
External links
Genodermatoses
Syndromes
{{Genodermatoses-stub}