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FLOTCH syndrome

MedGen UID:
419074
•Concept ID:
C2931411
•
Disease or Syndrome
Synonyms: Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity; Friedel Heid Grosshans syndrome
SNOMED CT: FLOTCH syndrome (774065001); Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome (774065001)
 
Monarch Initiative: MONDO:0016083
Orphanet: ORPHA2045

Definition

A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFLOTCH syndrome
Follow this link to review classifications for FLOTCH syndrome in Orphanet.

Recent clinical studies

Diagnosis

FLOTCH Syndrome: A Case of Leukonychia Totalis and Multiple Pilar Cysts.
Mansour M, Brothers R, Brothers R
Cutis 2023 Oct;112(4):200-202. doi: 10.12788/cutis.0895. PMID: 37988304
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?
Rodríguez-Lojo R, Del Pozo J, Sacristán F, Barja J, Piñeyro-Molina F, Pérez-Varela L
Eur J Dermatol 2011 Jul-Aug;21(4):484-6. doi: 10.1684/ejd.2011.1369. PMID: 21659070

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