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- Presentation
When Jeans Can Get Rashy: Erythema and Pigmentation in Pediatric Dermatology
Description
The presentation discusses cases of dermatological conditions in pediatric patients, focusing on the diagnosis and management of erythropoietic protoporphyria (EPP) and incontinentia pigmenti (IP). The first case involved a young girl suffering from sun exposure-related symptoms, which led to a diagnosis of EPP through elevated serum porphyrin levels. The speaker highlighted the importance of a proper workup and the potential liver complications associated with EPP. Novel treatments were mentioned, although they remain unavailable for children. The second case detailed a newborn with a pustular rash diagnosed as IP, emphasizing the need for awareness due to its associated complications in skin, eyes, and CNS. It showcased the diagnostic criteria and the importance of referrals for managing potentially severe outcomes. The final case presented juvenile xanthogranuloma, revealing an ENTRAC gene fusion associated with significant treatment responses to targeted therapy. The informative session underscored the need for timely diagnosis and the complexities involved in managing these pediatric dermatologic conditions.
View moreConclusions
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are characterized by recurrent erythema, swelling, and pain in sun-exposed areas without blistering.
- Elevated serum and whole blood erythrocyte porphyrin levels are essential for diagnosing erythropoietic protoporphyria (EPP).
- 2-5% of patients with EPP develop significant cholestatic liver dysfunction, necessitating serial evaluation of liver function.
- Diagnosis of EPP often experiences delays, with a median of 13 years from symptom onset to diagnosis.
- Children with EPP lack available effective treatments, emphasizing the need for strict sun protection and potential dietary interventions.
- Incontinentia pigmenti (IP) presents with characteristic neonatal lesions that can indicate a serious genetic condition, requiring prompt referral for ophthalmological and neurological assessment.
- IP should be suspected in neonates exhibiting a typical papulopustular rash, especially if there’s a family history of multiple miscarriages or if the infant is female.
- Skin biopsies may aid in diagnosing incontinentia pigmenti by revealing eosinophilic infiltrates and dyskeratotic keratinocytes.
- Juvenile xanthogranuloma (JXG) can produce disfiguring lesions; genetic testing for NTRK fusions may guide treatment options with available inhibitors.
- Larotrectinib is an effective therapeutic option for pediatric patients with JXG displaying NTRK gene fusions, showing promising results in tumor regression.
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