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hypotrichosis simplex of the scalp

MIM.146520 6p21.3

Sunday 5 February 2006

Etiology

- 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.