Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is a mutation in the gene ZBTB20 and there are no known treatments.
Pathophysiology
The cause of Primrose syndrome is a mutation in the gene ZBTB20. This condition is extremely rare and seems to spontaneously occur, regardless of family history.
In 1996, Lindor et al. reported a 43-year-old male patient with schizophrenia, as well as other neurological disorders, and severe pinnae calcification. Additional symptoms included hearing loss, stiffened joints, and facial deformities.
In 2006, Mathijssen et al. described an adult male intellectually disabled patient who had calcified pinnae and a neoplasm of the palate. The patient also had extensive hearing loss, little to no body hair, distorted facial features, and joint contractures. The patient also developed testicular cancer, but it is unknown whether or not it is related to the syndrome. The patient experienced cryptorchidism, a birth defect where one of the testes is not present at birth; that may have played a part in the formation of the tumor.
In 2010, another similar case was studied extensively by Dalal et al. The patient was an intellectual disabled 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage. Additionally, she was born with Ebstein malformation, a congenital heart defect, agenesis of the corpus callosum, and hip dysplasia. Other symptoms included hypothyroidism, diabetes, and muscle control problems. A brain MRI showed that her basal ganglia had partially calcified, which may have contributed to her paraparesis and motor tics.