Autosomal recessive hereditary hypotrichosis simplex: A case report

Hereditary hypotrichosis (HS) comprises a large and heterogeneous group of disorders characterized by a paucity of hair since birth. These diseases can be classified according to their mode of inheritance and the presence of extracutaneous features such as cardiomyopathy or lymphedema. A rare form of autosomal recessive HS was identified in 2017, caused by mutations in the lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase [LSS]) gene,1 which encodes a key enzyme in the cholesterol biosynthetic pathway.