Extra credit case study

EXTRA CREDITJADE STORLEY

CONSIDER THE FOLLOWING PATIENTA 14 year old female, Hermione, who was born with a short big toe. The big toes has a deformation called valgus deviation. Since childhood she has experienced skin abnormality, ectopic calcification, and limitation in joint mobility.

QUESTIONWhat could be a potential diagnosis for this patient?

CAUSES Causes• Can be inherited as autosomal dominant trait• Mutation of a gene on chromosome 2 (2q23-24) for a

receptor in the BMP signaling pathway (ACVR1)• BMP are regulatory proteins that are used for the

formation and repair of the skeleton

DIAGNOSIS AND TREATMENTDiagnosis• Examination of big toe• Sequencing of ACVR1 gene

Treatment• No known treatments• Occupational therapy and genetic counseling may be

advised

QUESTIONHow would gene counseling be beneficial?

AFFECTED INDIVIDUALS• Very rare disease• Estimated 3,000 affected individuals worldwide• 800 known diagnosed patients• Affects all genders and ethnicities

RECOMMENDATIONS FOR AFFECTED INDIVIDUALS• Avoid intramuscular injections• Practice good oral care• Avoid traumatic injuries• Low-intensity and low-impact exercise is recommended• Avoid tight clothing (may cause flare-ups)