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Mild expression of fibrodysplasia ossificans progressiva: a report of 3 cases
H B Janoff1, J A Tabas, E M Shore
1Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, USA.
Abstract:
We describe 3 unusually mild cases of fibrodysplasia ossificans progressiva (FOP) in an 80-year-old man, a 44-year-old woman, and a 17-year-old woman. The man, whose daughter had classic features of FOP, lacked malformation of the great toes and experienced unusually slow progression of the disease. Both women displayed late onset heterotopic ossification. The older women displayed an unusually slow progression of the disease. All 3 patients remained ambulatory at the time of examination. Recognition of a mild form of FOP will influence diagnosis, counselling, and research in this rare condition.
Insights
Mild fibrodysplasia ossificans progressiva (FOP) cases were identified in three patients, presenting with slower disease progression and maintained ambulation. Recognizing milder FOP forms impacts diagnosis, patient counseling, and future research for this rare genetic disorder.
Area of Science:
- Genetics
- Rare Diseases
- Skeletal Dysplasias
Background:
- Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by progressive heterotopic ossification (HO) and congenital skeletal malformations.
- Classic FOP typically presents with malformed great toes and early-onset, rapid progression of HO, leading to significant disability.
Observation:
- This study details three atypical cases of FOP with unusually mild disease manifestations.
- The patients included an 80-year-old man, a 44-year-old woman, and a 17-year-old woman, all retaining ambulation.
- The man lacked great toe malformation and showed slow disease progression, while both women exhibited late-onset HO and slow progression.
Findings:
- The identified cases represent a milder phenotypic spectrum of FOP than typically described.
- Key features included late-onset HO, slow disease progression, and preservation of ambulation in all three individuals.
- The absence of classic great toe malformation in one patient further broadens the clinical presentation of FOP.
Implications:
- The recognition of mild FOP variants is crucial for accurate diagnosis and genetic counseling.
- Understanding this spectrum can refine diagnostic criteria and inform prognostic assessments.
- Further research into the genetic and molecular underpinnings of mild FOP may reveal novel therapeutic targets.