Progeria in Child
Characteristic facial features of progeria include loss of subcutaneous fat, a thin "beaked" nose, and a large cranium with sparse hair. Patients have a high-pitched voice and normal intelligence.
Progeria is a chronic and progressive disease. Most patients succumb to atherosclerotic complications by the second decade of life.
In November 2020, the US Food and Drug Administration (FDA) approved the first treatment to reduce the risk of mortality in patients with progeria.
E34.8 – Other specified endocrine disorders
238870004 – Progeria
Differential Diagnosis & Pitfalls
- Cockayne syndrome can have many features that overlap with progeria, but sclerodermoid skin changes are lacking and alopecia is less severe. Progeria does not have neurocognitive degeneration, which is commonly associated with Cockayne syndrome.
- Werner syndrome is also associated with premature aging and sclerodermoid skin changes. Generally this is a less severe phenotype than progeria, and these patients have a longer life expectancy.