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Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

MedGen UID:
1654873
Concept ID:
C4751169
Disease or Syndrome
Synonyms: Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome; leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
SNOMED CT: Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (773700005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0016213
Orphanet: ORPHA210133

Definition

A rare syndromic nail anomaly disorder with characteristics of the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Recent clinical studies

Etiology

Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344

Diagnosis

Nguyen C, Hughes C, Little S, Carruth A, Nolan D, Ruth J
Pediatr Dermatol 2024 Nov-Dec;41(6):1211-1214. Epub 2024 Jul 12 doi: 10.1111/pde.15671. PMID: 38994911
Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344
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

Clinical prediction guides

Kumar A, Jabeen M, Sharma P
Skinmed 2023;21(2):84-88. Epub 2023 May 9 PMID: 37158344
Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y
Hum Mol Genet 2015 Jan 1;24(1):243-50. Epub 2014 Aug 28 doi: 10.1093/hmg/ddu442. PMID: 25168385
Le Corre Y, Steff M, Croue A, Filmon R, Verret JL, Le Clech C
Eur J Med Genet 2009 Jul-Aug;52(4):229-33. Epub 2009 May 4 doi: 10.1016/j.ejmg.2009.04.003. PMID: 19401242

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