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September 4, 2019

Anetoderma Associated With a Succinate Dehydrogenase Gene Mutation: A Potential Link Between Anetoderma and Citric Acid Cycle Mutations

Author Affiliations
  • 1Department of Dermatology, Duke University Medical Center, Durham, North Carolina
JAMA Dermatol. Published online September 4, 2019. doi:10.1001/jamadermatol.2019.2579

Anetoderma, defined by the loss of elastic fibers in the dermis, presents with flesh-colored, atrophic, saccular papules that herniate on palpation. The lesions can be primary, occurring de novo, or secondary, occurring in areas of prior skin disorder or other inflammatory processes. Rarely, anetoderma can be acquired genetically. Anetoderma has previously been described in association with Reed syndrome, an autosomal dominant disorder caused by an underlying citric acid cycle mutation in fumarate hydratase (FH) and characterized by cutaneous and uterine leiomyomas.1 Herein, we present a case of anetoderma associated with a mutation in succinate dehydrogenase subunit B (SDHB), affecting the enzymatic step in the citric acid cycle immediately preceding FH.

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    1 Comment for this article
    Anetoderma Support Group
    Sabrina Harris | Patient
    If anyone is interested, I have started a Facebook group for anyone with anetoderma; feel free to join at https://www.facebook.com/groups/AnetodermaSupportGroup