atrichia with papular lesions
Definition An autosomal recessive disorder (OMIM:209500) characterised by papules over most of the body and complete absence of hair.
Molecular pathology Defects of HR, which encodes a protein involved in hair growth, that functions as a transcription
corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, cause atrichia with papular lesions.
Synonym Papular atrichia