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Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome
Garrett Nelson1, Sanjana Iyengar2, Philip Shenefelt3
1Department of Dermatology, University of South Florida College of Medicine, Tampa, FL; gnelson1@health.usf.edu.
Insights
A six-year-old boy with Pallister-Killian syndrome developed extensive lesions starting at age two. Current treatments showed little improvement, indicating a need for further investigation into PKS-related dermatological manifestations.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mosaicism for an extra X chromosome.
- Dermatological manifestations are not well-documented in PKS literature.
Observation:
- A six-year-old boy diagnosed with PKS presented with widespread skin lesions.
- Lesions appeared at age two, initially on the head and neck, spreading to the lower extremities.
- Previous treatment with desonide and ketoconazole cream yielded minimal improvement.
Findings:
- The case highlights a significant, previously undocumented dermatological presentation in a child with PKS.
- The extensive nature and progression of the lesions suggest a potential link between PKS and specific skin pathologies.
Implications:
- This case underscores the importance of considering PKS in the differential diagnosis of unexplained extensive skin lesions in children.
- Further research is needed to understand the pathogenesis of these lesions in PKS and to develop effective therapeutic strategies.
Abstract:
A six-year-old boy with Pallister-Killian syndrome (PKS) presented to the clinic with extensive lesions on his body (Figure 1). The patient was not born with the lesions but began developing them on the head and neck, extending to his lower extremities, at 2 years of age. These lesions had been evaluated by his primary care physician and were previously treated with desonide and ketoconazole cream with little improvement.
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