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Abnormal skin morphology

MedGen UID:
869110
Concept ID:
C4023528
Anatomical Abnormality
Synonyms: Abnormal skin structure; Abnormality of skin morphology
 
HPO: HP:0011121

Definition

Any morphological abnormality of the skin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal skin morphology

Conditions with this feature

Nonsyndromic congenital nail disorder 3
MedGen UID:
107463
Concept ID:
C0544855
Congenital Abnormality
Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
Tooth agenesis, selective, 3
MedGen UID:
410035
Concept ID:
C1970291
Disease or Syndrome
Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.
Hypotrichosis 13
MedGen UID:
863053
Concept ID:
C4014616
Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Dispenzieri A
Am J Hematol 2019 Jul;94(7):812-827. Epub 2019 May 23 doi: 10.1002/ajh.25495. PMID: 31012139
Saguil A, Kane S, Mercado M, Lauters R
Am Fam Physician 2017 Nov 15;96(10):656-663. PMID: 29431387

Recent clinical studies

Clinical prediction guides

Journo G, Ahuja A, Dias-Polak D, Eran Y, Bergman R, Shamay M
Front Cell Infect Microbiol 2021;11:666143. Epub 2021 Jul 9 doi: 10.3389/fcimb.2021.666143. PMID: 34307191Free PMC Article

Supplemental Content

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