SERPINB8-nEDD
Previously: Peeling skin syndrome
Key Clinical Clues
PPK with skin peeling most prominent over the hands, feet and lower extremities.
Additional Cutaneous Features
Histopathology: Acanthosis, thickening of the stratum corneum, disadhesion of keratinocytes in the basal and suprabasal layers of the epidermis with intercellular space widening.
Treatment
Kallikrein inhibitors may be efficient.
References
Pigors M, Sarig O, Heinz L et al. Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Am J Hum Genet 2016; 99:430-6.
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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