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Skin fragility syndrome

Field	Value
name	Skin fragility syndrome
synonyms	Plakophilin 1 deficiency
image	Autosomal recessive - en.svg
caption	This condition is inherited in an autosomal recessive manner.
field	Dermatology

Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions.

It is associated with PKP1.

References

Rapini, Ronald P.. (2007). "Dermatology: 2-Volume Set". Mosby.
(July 2003). "Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1". J. Invest. Dermatol..

Info: Wikipedia Source

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genodermatoses syndromes

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