Severe atopic dermatitis and growth failure associated with a STAT5B gene mutation in a 7-month-old infant.
Julieta Zone, María M Buján, Carolina Crespo et al.
✦ AI-curated · Sources linked
Case in brief
A 7-month-old boy with no significant perinatal history was referred for a skin condition present for 5 months and severe growth retardation, including low weight for height. Common causes of early-onset atopic dermatitis—including food allergies, primary immunodeficiencies, and inborn errors of metabolism—were ruled out. Genetic testing established STAT5B deficiency, a syndrome associated with severe postnatal growth retardation, atopic dermatitis, and hormonal and immunological abnormalities.
What made this case unusual
The combination of early-onset atopic dermatitis and severe growth retardation led to diagnosis of a rare genetic syndrome after common causes of the skin disease were excluded.
Diagnostic / clinical pearl
In an infant with early-onset atopic dermatitis and severe growth retardation, consider STAT5B deficiency, particularly when common causes of dermatitis have been excluded.