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Nevus comedonicus syndrome: a new pediatric case
A Patrizi1, I Neri, C Fiorentini
1Department of Clinical and Experimental Medicine, University of Bologna, Italy.
Pediatric Dermatology
|August 28, 1998
Summary
Nevus comedonicus syndrome (NCS) is a rare disorder characterized by large comedones and associated noncutaneous abnormalities. This case report details a boy with NCS exhibiting linear comedones and multiple skeletal and digit anomalies.
Area of Science:
- Dermatology
- Genetics
- Developmental Biology
Background:
- Nevus comedonicus (NC) is a rare pilosebaceous developmental defect presenting as large comedones, often in linear patterns.
- Nevus comedonicus syndrome (NCS) is a distinct disorder within epidermal nevus syndromes, characterized by cutaneous and extracutaneous manifestations.
- Extracutaneous findings in NCS commonly include skeletal defects, cerebral anomalies, and ocular abnormalities like cataracts.
Observation:
- A 9-year-old boy presented with a linear pattern of open comedones on his right cheek.
- The patient exhibited congenital skeletal anomalies: clinodactyly and polydactyly of the right first finger, and bilateral syndactyly of the second and third toes.
- Hypopigmented hair was also noted since birth.
Findings:
- The case illustrates a pediatric presentation of Nevus comedonicus syndrome (NCS).
- The combination of linear nevus comedonicus with specific digital and pedal malformations (clinodactyly, polydactyly, syndactyly) is highlighted.
- The report documents the presence of depigmented hair as an additional feature.
Implications:
- This case expands the phenotypic spectrum of Nevus comedonicus syndrome.
- It underscores the importance of thorough clinical evaluation for associated noncutaneous abnormalities in patients with nevus comedonicus.
- Further research into the genetic and developmental underpinnings of NCS may aid in early diagnosis and management.