woolly hair syndrome

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woolly hair syndrome2016-11-28T13:47:56+00:00

woolly hair syndrome 

woolly hair image from New Medical Terms

Hendrix J, et al, with woolly hair syndrome

DERMATOLOGY

A popular term for tight curly hair which is first seen at birth in some Caucasians and light-skinned African Americans. It may be:

(1) Sporadic woolly hair and associated with woolly hair nevus (OMIM:162900)

(2) Hypotrichosis 8 An autosomal recessive condition (OMIM:278150), in which the scalp hair is ash-white and the body hair is short and kinky.

Molecular pathology Hypotrichosis is caused by defects in LPAR6, which encodes a G-protein-coupled receptor that plays a key role in maintaining hair growth and texture. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=LPAR6

http://www.uniprot.org/uniprot/P43657

http://omim.org/entry/278150

(3) Naxos disease An autosomal recessive disorder (OMIM:601214), first reported in a cohort on the Greek island of Naxos, which is characterised by palmoplantar keratoderma and other ectodermal defects and arrhythmogenic right ventricular dysplasia/cardiomyopathy. 

Molecular pathology Naxos disease is caused by defects in JUP, which encodes a protein present in the submembranous plaques of desmosomes and intermediate junctions, which forms distinct complexes with cadherins.  

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=JUP

http://www.uniprot.org/uniprot/P14923

http://www.omim.org/entry/601214

(4) Woolly hair—autosomal dominant AN inherited condition (OMIM:194300) characterised by fine and tightly curled hair that grows slowly, stops growing after a few inches and, by light microscopy, has structural defects, including trichorrhexis nodosa and tapered ends.

Molecular pathology Defects in KRT74, which encodes a keratin specifically expressed in the inner root sheath of hair follicles. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT74

http://www.uniprot.org/uniprot/Q7RTS7

http://www.omim.org/entry/194300

Synonyms (for all of these conditions) Woolly hair disease, wooly hair disease, wooly hair syndrome

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