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Childhood Köhlmeier-Degos disease with atypical skin lesions
Abstract:
We report clinical and pathologic findings in a 16-year-old boy whose disease began in infancy with maculopapular skin lesions, followed by cyclic nodular cutaneous eruptions, intermittent enlargement of liver and spleen, episodic abdominal pain, and sporadic unexplained fever. Subsequently, various ophthalmologic disturbances, along with a multitude of neurologic signs and symptoms, dominated the clinical picture. The CNS bore the brunt of pathologic changes, characterized by widespread leptomeningeal fibrosis, ventricular enlargement, and multiple brain infarcts. Striking intimal thickening led to narrowing or occlusion of almost all the medium-sized and small extraparenchymal arteries.
Insights
This case study details a rare pediatric disease presenting with skin lesions, organomegaly, and neurological issues. Pathologic findings reveal widespread central nervous system (CNS) damage and arterial narrowing.
Area of Science:
- Pediatric Neurology
- Vascular Pathology
- Dermatology
Background:
- A rare multisystemic disease affecting a 16-year-old male since infancy.
- Characterized by a complex array of clinical manifestations.
Observation:
- Initial symptoms included maculopapular skin lesions, cyclic nodular eruptions, hepatosplenomegaly, abdominal pain, and fever.
- Progressed to significant ophthalmologic and neurologic deficits.
Findings:
- Central nervous system (CNS) pathology was severe, with leptomeningeal fibrosis, ventricular enlargement, and multiple brain infarcts.
- Striking intimal thickening of medium and small extraparenchymal arteries was observed, leading to vessel narrowing or occlusion.
Implications:
- Highlights the critical role of vascular pathology in pediatric neurological disorders.
- Suggests the need for early diagnosis and potential vascular-targeted therapies.
- Underscores the importance of comprehensive evaluation in complex pediatric cases.