The first presents clinically with microcephaly, congenital cataracts, chronic arthralgias, and dramatic psoriasiform dermatitis. One case has been reported with delayed growth and congenital cataracts but no skin manifestations or microcephaly. Another had significant rheumatoid arthritis with joint immobilization, cataracts, microcephaly, and dry skin. Laboratory findings can include elevated levels of serum IgE and IgA, low total cholesterol level, low HDL and low LDL, but normal triglycerides and VLDL. All patients with sterol C4 methyl oxidase have exhibited an abnormal plasma sterol profile gas chromatography–mass spectrometry (GC-MS), with 20- and 500-fold elevation of 4α-monomethyl sterols and 4, 4′-dimethyl sterols, respectively.
SC4MOL