hypotrichosis 2

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hypotrichosis 22016-11-26T06:06:56+00:00

hypotrichosis 2

DERMATOLOGY

Definition A condition (OMIM:146520) characterised by less than the normal amount of hair and early-onset hair loss. Scalp-limited hair loss begins by age 5 and progresses to nearly complete baldness by early adulthood. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.

Molecular pathology Defects of CDSN, which encodes a protein critical for maintaining the integrity of the epidermal barrier, cause hypotrichosis 2. 

Synonyms Hypotrichosis simplex of the scalp, hypotrichosis–Spanish type

References http://www.uniprot.org/uniprot/Q15517

http://www.omim.org/entry/146520 

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