hypotrichosis simplex of the scalp
Sunday 5 February 2006
germline mutations of CDSN in hypotrichosis simplex of the scalp (MIM.146520)
- Corneodesmosin (CDSN) is a rotein of corneodesmosomes
- Corneodesmosomes are intercellular structures that are involved in desquamation, the shedding of superficial corneocytes from the skin surface.
- Corneocytes are anucleated cells derived from keratinocytes during the late stages of terminal differentiation of cornified squamous epithelia such as the epidermis.