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Circumferential skin creases on extremities

MedGen UID:
900690
Concept ID:
C4231432
Finding
HPO: HP:0034400

Definition

Ringed creases of the skin of the extremities related to folding of excess skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCircumferential skin creases on extremities

Conditions with this feature

Skin creases, congenital symmetric circumferential, 2
MedGen UID:
902880
Concept ID:
C4225225
Congenital Abnormality
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610).
Multiple benign circumferential skin creases on limbs 1
MedGen UID:
1631916
Concept ID:
C4551592
Disease or Syndrome

Recent clinical studies

Etiology

Theriot J, Bhattarai P, Finlay DJ
Ann Vasc Surg 2019 Oct;60:468-473. Epub 2019 Jun 12 doi: 10.1016/j.avsg.2019.03.006. PMID: 31200050

Therapy

Colwell AS
Plast Reconstr Surg 2023 May 1;151(5):1001-1003. Epub 2022 Dec 20 doi: 10.1097/PRS.0000000000010080. PMID: 36729409
Baran E, Özçakar L, Özgül S, Aksoy S, Akbayrak T
Support Care Cancer 2021 Nov;29(11):6545-6553. Epub 2021 Apr 29 doi: 10.1007/s00520-021-06235-4. PMID: 33913006Free PMC Article
Theriot J, Bhattarai P, Finlay DJ
Ann Vasc Surg 2019 Oct;60:468-473. Epub 2019 Jun 12 doi: 10.1016/j.avsg.2019.03.006. PMID: 31200050

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