Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Woolly hair nevus
Synonyms

Wooly hair nevus
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_79414
alternative_term

Wooly hair nevus
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79414
hasDbXref

OMIM:162900

ICD-10:D23.4

ICD-11:LC01

UMLS:C0343114
label

Woolly hair nevus
notation

ORPHA:79414
part_of

http://www.orpha.net/ORDO/Orphanet_79366
prefixIRI

ORDO:Orphanet_79414
prefLabel

Woolly hair nevus
treeView

http://www.orpha.net/ORDO/Orphanet_79366
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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