SERPINA12-pEDD
Previously: Autosomal recessive PPK
pEDD
Gene: SERPINA12
AR
Onset:
Since birth, early childhood
Pathway:
Enzymes and their inhibitors
Category Paper:
pEDD Paper
Key Clinical Clues
Diffuse and transgradient erythema/thickening; aquagenic.
Additional Cutaneous Features
Extending from the palms and soles to the dorsum of the hands and feet, the inner wrists and the Achilles tendon area, aquagenic
Treatment
Potential for Kallikrein inhibitors.
References
Mohamad J, Sarig O, Malki L et al. Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma. J Invest Dermatol 2020; 140:2178-87.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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