Japanese familial anetoderma: A report of two cases and review of the published work

J Dermatol. 2018 Dec;45(12):1459-1462. doi: 10.1111/1346-8138.14672. Epub 2018 Oct 15.


Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue, resulting in macular atrophy or herniated saclike skin. Some families with hereditary anetoderma have been described, but there have been no reports on Japanese familial anetoderma so far. We herein report two Japanese sibling cases of primary anetoderma. A healthy 13-year-old Japanese girl and a healthy 15-year-old Japanese girl presented to our hospital with a 6-month history of small atrophic pittings on their arms and trunks. All lesions were less than 0.5 cm in diameter, which are relatively small for non-familial anetoderma. Preceding infections or skin lesions were not observed. A skin biopsy revealed a focal, complete loss of elastic tissue in the superficial to mid-dermis which was surrounded by fine, irregular or twisted elastic fibers. Based on these findings, the diagnosis of anetoderma was made. Review of published works demonstrated that the mode of inheritance of familial anetoderma is not simple, suggesting that it is important to survey any family member of the patients with anetoderma.

Keywords: atrophic pittings; elastic fibers; elastolysis; familial anetoderma; primary anetoderma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Anetoderma / diagnosis*
  • Anetoderma / genetics
  • Anetoderma / pathology
  • Biopsy
  • Female
  • Humans
  • Japan
  • Medical History Taking*
  • Multifactorial Inheritance*
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Rare Diseases / pathology
  • Skin / pathology