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Woolly hair nevus

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Name:
Woolly hair nevus
Description:
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
ORPHAcode:
79414
Synonyms:
Wooly hair nevus
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
HRAS
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • epidermal nevus syndrome (65 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKT1 0.00 0 Only hotspots in the gene
    ALK 0.00 0 Only hotspots in the gene
    BRAF 0.00 0 Only hotspots in the gene
    CDKN2A 0.00 0 Only hotspots in the gene
    CTNNB1 0.00 0 Only hotspots in the gene
    DDR2 0.00 0 Only hotspots in the gene
    EGFR 0.00 0 Only hotspots in the gene
    ERBB2 0.00 0 Only hotspots in the gene
    ERBB4 0.00 0 Only hotspots in the gene
    FGFR2 0.00 0 Only hotspots in the gene
    FGFR3 0.00 0 Only hotspots in the gene
    H3-3A 0.00 0 Only hotspots in the gene
    H3C2 0.00 0 Only hotspots in the gene
    HRAS 0.00 0 Only hotspots in the gene
    IDH1 0.00 0 Only hotspots in the gene
    IDH2 0.00 0 Only hotspots in the gene
    KIT 0.00 0 Only hotspots in the gene
    KRAS 0.00 0 Only hotspots in the gene
    MAP2K1 0.00 0 Only hotspots in the gene
    MET 0.00 0 Only hotspots in the gene
    NRAS 0.00 0 Only hotspots in the gene
    PDGFRA 0.00 0 Only hotspots in the gene
    PIK3CA 0.00 0 Only hotspots in the gene
    PIK3R1 0.00 0 Only hotspots in the gene
    PTEN 0.00 0 Only hotspots in the gene
    STK11 0.00 0 Only hotspots in the gene