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Presentation

Pediatric Dermatology Cases: Navigating Diagnostic and Treatment Uncertainty with Limited Data

Description

The talk focused on how pediatric dermatology often involves making decisions amid diagnostic and treatment uncertainty, emphasizing that clinicians may not always have definitive answers but should provide a thoughtful approach and use shared decision-making. The first case involved a 17-year-old with a draining ulcer initially treated as cellulitis, ultimately diagnosed as pyoderma gangrenosum after biopsy and negative infectious workup. Because pediatric PG is uncommon and frequently associated with inflammatory bowel disease, she was screened with fecal calprotectin and GI evaluation, which revealed Crohn’s disease. Her PG improved with infliximab, prednisone, and dapsone, but later the team struggled with tapering dapsone when anemia developed and the lesion recurred after stopping it, highlighting limited data on recurrence and the lack of reliable correlation between PG and IBD flares. The second case involved an infant with Artemis-deficient SCID and maternal GVHD-like skin disease after gene therapy. Clinical findings and biopsies were mixed and evolving, chimerism results did not fully match the skin disease, and literature offered little guidance. After multidisciplinary discussion and a therapeutic leap based on morphology and a recent case series, the team started dupilumab for presumed eczematous/GVHD-like inflammation, leading to marked improvement and eventual clearance. Key lessons were to screen for IBD in pediatric PG, recognize that skin disease may not track systemic disease, correlate pathology with clinical morphology, consult experts, and be willing to try carefully chosen off-label therapies when evidence is sparse.

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Conclusions

Pyoderma gangrenosum in a pediatric patient should prompt a deliberate search for underlying inflammatory bowel disease, even when gastrointestinal symptoms are minimal or absent.
Fecal calprotectin can be a useful screening tool for occult intestinal inflammation when GI access is limited or the diagnosis is otherwise unclear.
Pediatric PG can improve substantially with treatment of the associated IBD, but PG flares may not reliably track with IBD flares.
When evidence is limited, management decisions often need shared decision-making across the patient, family, and multidisciplinary specialists rather than relying on a single guideline.
Stopping or tapering adjunctive therapy such as dapsone may be reasonable once the skin is healed and the systemic disease is controlled, but recurrence remains possible.
In severe SCID-related rashes, skin findings and blood chimerism can evolve independently, so blood studies alone may not fully explain cutaneous disease activity.
Biopsy and clinicopathologic correlation remain essential when the morphology changes or the diagnosis is uncertain.
When standard explanations do not fit, a therapeutic leap based on pathophysiology, morphology, and emerging literature can be justified.
In the presented SCID case, dupilumab appeared to be a successful off-label option for a GVHD-like dermatitis after other immunosuppressive approaches were insufficient.
Rare pediatric dermatology cases highlight the value of persistent follow-up, literature review, and consultation with experts to arrive at workable treatment strategies.

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