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  • Presentation

Three Tiny Patients: Diagnosing Rare Pediatric Dermatologic Conditions

Description

This presentation reviewed three rare pediatric dermatology cases and the diagnostic thinking behind them. The first case involved a five-month-old infant initially treated for severe seborrheic dermatitis, but the painful, widespread scaly and eroded eruption, plus diarrhea and weight loss, raised concern for Langerhans cell histiocytosis. A skin biopsy with S100 and Langerhans cell staining confirmed the diagnosis, highlighting the importance of biopsy when an infantile dermatitis is painful, persistent, or accompanied by systemic symptoms. The second case described a newborn with a congenital purple abdominal plaque and abnormal coagulation studies, prompting consideration of tufted angioma versus kaposiform hemangioendothelioma and possible Kasabach-Merritt phenomenon. Imaging and multidisciplinary review favored a superficial tufted angioma, and the speaker emphasized using lesion behavior, depth, and lab abnormalities to guide management rather than biopsy every vascular lesion immediately. The third case focused on a neonate born with collodion membrane, illustrating that this is a phenotype rather than a final diagnosis. Immediate stabilization with admission, humidified incubator care, fluid and electrolyte monitoring, infection surveillance, ophthalmology input, and nutritional support is essential, while genetic testing can later clarify the underlying disorder.

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Conclusions

  • Severe or treatment-resistant infantile seborrheic dermatitis-like eruptions should prompt concern for Langerhans cell histiocytosis, especially when pain, diarrhea, or weight loss are present.
  • Early skin biopsy with appropriate immunostaining is important when systemic clues suggest an occult histiocytic disease.
  • Congenital vascular plaques should not be assumed to be simple hemangiomas because depth, behavior, and coagulation abnormalities may indicate a lesion at risk for Kasabach-Merritt phenomenon.
  • Before biopsying a suspicious vascular lesion, clinicians should evaluate for consumptive coagulopathy with labs and imaging and involve multidisciplinary specialists when needed.
  • Tufted angioma tends to be more superficial and indolent than kaposiform hemangioendothelioma, which is more infiltrative and more strongly associated with Kasabach-Merritt phenomenon.
  • Not every vascular lesion requires immediate biopsy if imaging and laboratory evaluation are reassuring and the lesion remains stable.
  • A collodion membrane is a phenotype rather than a diagnosis, so newborns with this presentation need urgent stabilization before the exact ichthyosis subtype is determined.
  • Early management of collodion babies should focus on humidified incubator care, fluid and electrolyte monitoring, temperature support, infection surveillance, and protection of the eyes and digits.
  • Genetic testing and longitudinal follow-up are often needed to define the final diagnosis and prognosis in collodion membrane infants.
  • Across these cases, the main lesson is to look beyond the obvious skin appearance and use pain, systemic symptoms, labs, imaging, and evolution over time to avoid missing serious disease.
  • Dhar S et al. Pediatr Dermatol. 2020. Langerhans cell histiocytosis in children: A retrospective case series of 126 cases.#10.1111/pde.14389
  • French National Protocol for Congenital Ichthyosis, 2024.
  • Van Gysel et al., JEADV 2002.
  • GeneReviews ARCI (NBK1420).