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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 sy ...
characterized by trauma-induced
blisters A blister is a small pocket of body fluid (lymph Lymph (from Latin, , meaning "water") is the fluid that flows through the lymphatic system, a system composed of lymph vessels (channels) and intervening lymph nodes whose function, like the ...
and erosions. It is associated with ''
PKP1 Plakophilin-1 is a protein that in humans is encoded by the ''PKP1'' gene. Function This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cel ...
''.


See also

*
List of conditions caused by problems with junctional proteins Mutations of proteins that hold the cells of the skin together can cause disease. Autoantibodies against proteins that hold the cells of the skin together can also cause disease. See also * List of keratins expressed in the human integumen ...


References


External links

Genodermatoses Syndromes {{Dermatology-stub