Nakajo Nishimua syndrome Flashcards
1
Q
What are the symptoms of Nakajo Nishimua syndrome?
A
Pernio-like purple lesions on hands and feet Nodular erythema Spiking fever Long-clubbed, contracted fingers and toes progressive, upper body lipodystrophy Hepatosplenomegaly Basal ganglia calcification Hyperhidrosis Rash on eyelids
2
Q
What gene is involved in Nakajo Nishimua syndrome?
A
PSMB8 gene on chromosome 6
3
Q
What is the inheritance pattern for Nakajo Nishimua syndrome?
A
Autosomal recessive
4
Q
What is the phenotype of the heterozygous in Nakajo Nishimua syndrome?
A
They are carriers
Have no presentation of symptoms
