FLOTCH Syndrome: A Case of Leukonychia Totalis and Multiple Pilar Cysts

Cutis. 2023 Oct;112(4):200-202. doi: 10.12788/cutis.0895.

Abstract

FLOTCH (leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome) syndrome is a rare genetic cutaneous disorder primarily characterized by multiple recurrent trichilemmal pilar cysts and leukonychia. It may be associated with ciliary dystrophy, koilonychia, and/or less frequently renal calculi and pancreatitis inherited in an autosomal-dominant fashion. We report the case of a 25-year-old Black woman who presented with white-colored fingernails and enlarging cysts in multiple locations including the scalp, rib cage, and forearm and was diagnosed with suspected FLOTCH syndrome. Pilar cysts in unusual locations along with distinct nail changes should prompt clinicians to consider further investigation for conditions such as FLOTCH syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharitis* / complications
  • Blepharitis* / genetics
  • Epidermal Cyst* / diagnosis
  • Female
  • Humans
  • Hypopigmentation* / complications
  • Nails, Malformed* / complications
  • Nails, Malformed* / genetics

Supplementary concepts

  • FLOTCH syndrome
  • Leukonychia totalis