PMC10036571_01
First skin lesions: nonevanescent erythematus papular generalized eruption at the first consult 24 days since birth (A), H&E staining showing interstitial infiltrates consisting of some atypical mononuclear cells with karyorrhexis (B), and persistent severe skin ulcers at 2 months of age (C), skin exacerbations previous to anti-TNFalpha therapy (D), lung MRI showing inflammatory infiltrate at 6 months after the fifth dose of anti-TNFalpha therapy (E), and skin erythema exacerbation in arms and legs prior to HSCT at 8 months (F).
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F1
At 1 week of life, she developed a nonevanescent erythematous-papular generalized eruption without fever, visceromegaly, or joint involvement (Figure 1A). T and NK cell counts with T lymphocyte subset frequencies, and proliferative response to mitogens within range values for age (see Table 1). The skin biopsy revealed interstitial infiltrates of some atypical mononuclear cells with karyorrhexis (Figure 1B). At 2 months, the severe skin lesions persisted, and she developed superinfected ulcerations on her buttocks, anemia (Hb: 90 g/L), and splenomegaly (Figure 1C). Due to persistent exacerbations of skin lesions, prednisone at 2 mg/kg/day and antibiotics (levofloxacin, 10 mg/kg/12 h) were started without improvement (Figure 1D). At 6 months, after the fifth dose of adalimumab, she developed new severe skin lesions, lymphopenia, anemia, thrombocytopenia, visceromegaly, and respiratory failure requiring mechanical ventilation; biologics were discontinued (Figure 1E). She developed skin erythema and adenopathy at the BCG site, and blood culture was positive for S. aureus (Figure 1F).
PMC10036571_02
Plasma levels of IL-6 and IL-8 in HD (n = 5) and the patient before HSCT (black bars) and on day +420 after HSCT (gray bars).
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F2