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Severe atopic dermatitis and growth failure associated with a STAT5B gene mutation in a 7-month-old infant
Julieta Zone1, María M Buján1, Carolina Crespo2
1Dermatology Department; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Autonomous City of Buenos Aires, Argentina.
Insights
Signal transducer and activator of transcription 5B (STAT5B) deficiency is a rare genetic disorder causing severe growth issues and skin problems. Early diagnosis is crucial for managing this condition.
Area of Science:
- Genetics
- Immunology
- Endocrinology
Background:
- Signal transducer and activator of transcription 5B (STAT5B) deficiency is a rare autosomal recessive syndrome.
- Characterized by severe postnatal growth retardation, atopic dermatitis, and hormonal/immunological abnormalities.
Abstract:
STAT5B (signal transducer and activator of transcription 5B) deficiency is a rare autosomal recessive syndrome characterized by severe postnatal growth retardation, atopic dermatitis, and hormonal and immunological abnormalities. We present the case of a 7-month-old male patient with no significant perinatal history who was referred to our clinic for a skin condition that had been present for 5 months, associated with severe growth retardation (low weight for height). After ruling out the most common causes of early-onset atopic dermatitis (such as food allergies, primary immunodeficiencies, and inborn errors of metabolism), genetic testing was performed, leading to a diagnosis of STAT5B deficiency. Our objective is to present a patient with a very rare disease that has a highly characteristic presentation, thereby aiding in early diagnosis.
