Phenylketonuria in Child
The untreated state is characterized by a constellation of functional and physical manifestations including intellectual disability, a characteristic bodily appearance, and neurological impairments. Intellectual disability worsens from early childhood to adolescence during brain maturation. Patients develop the classic triad of blond hair, blue eyes, and light skin usually by the second year of life. Atopic dermatitis may occur, and sclerodermatous changes limited to skin and connective tissue have been reported. Patients may also have neuropsychiatric abnormalities.
E70.0 – Classical phenylketonuria
7573000 – Classical phenylketonuria
Differential Diagnosis & Pitfalls
- Scleroderma of childhood – Also favors lower extremities but may involve hands and feet. Scl-70 antibody is positive.
- Scleredema – Favors the face, neck, and upper back.
- Stiff-skin syndrome – Affects the entire body. Hypertrichosis is also present.
- Subcutaneous fat necrosis of newborn – Self-limited, localized sclerodermatous changes in newborns.