Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions.

Atrichia with papular lesions (APL) (MIM 209 500) is a rare autosomal recessive disease characterized by early onset of atrichia, followed by a papular eruption within the first years of life. Recent studies demonstrating linkage to chromosome 8p21 and further mutation detection in the hairless gene (HR) have established the molecular basis of APL. This study describes the case of a 16-year-old female with APL due to a missense mutation, D1012N, in the hr-thyroid hormone receptor interacting domain 2 (TRID2) of the HR.

Clinical and pathologic correlations in genetically distinct forms of atrichia.

Background: The genetic basis of 2 distinct forms of atrichia with papules has recently been defined at the molecular level. In atrichia with papular lesions (APL; Online Mendelian Inheritance in Man [OMIM] 209500), mutations in the hairless gene on chromosome 8p21 have recently been identified. Atrichia with papules also occurs in the clinical setting of vitamin D-dependent rickets type IIA (VDDR IIA; OMIM 277440), resulting from mutations in the vitamin D receptor gene on chromosome 12q12-q14.