[Extensive connective tissue nevus in children]

Area of Science:

• Dermatology
• Genetics
• Pathology

Background:

• Connective tissue nevus (CTN) is a rare disorder affecting extracellular matrix components.
• It typically presents as papules of normal skin color and can be syndromic or sporadic.

Observation:

• Two pediatric cases of extensive and infiltrative CTN were reported.
• Pathology revealed mixed hamartoma and collagenoma in these isolated cases.

Findings:

• Early CTN onset is often subtle and difficult to ascertain.
• Extensive CTN requires differentiation from eosinophilic fasciitis and morphea via skin biopsy.
• CTN can be associated with Buschke-Ollendorf syndrome, characterized by osteopoikilosis detected via X-ray.

Implications:

• Prompt diagnosis and differentiation are crucial for managing extensive CTN.
• Understanding CTN's association with skeletal abnormalities aids in comprehensive patient assessment.
• Symptomatic care is the primary management strategy for CTN and associated skeletal findings.