Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome

Area of Science:

• Oncology
• Pediatric Oncology
• Dermatology

Background:

• Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing malignant skin neoplasm.
• DFSP predominantly affects adults, with limited reported cases in pediatric populations.
• Shwachman-Diamond syndrome (SDS) is a rare inherited disorder with various clinical manifestations.

Purpose of the Study:

• To report a rare case of DFSP in a pediatric patient.
• To highlight the occurrence of DFSP in a patient with Shwachman-Diamond syndrome (SDS).
• To contribute to the understanding of DFSP epidemiology in young individuals.

Main Methods:

• Case report presentation.
• Review of relevant medical literature on DFSP and SDS.

Main Results:

• A case of dermatofibrosarcoma protuberans (DFSP) was identified in a young patient.
• The patient had a co-existing diagnosis of Shwachman-Diamond syndrome (SDS).
• This presentation is uncommon, given the typical age of DFSP onset.

Conclusions:

• DFSP can occur in pediatric patients, although it is rare.
• The association of DFSP with Shwachman-Diamond syndrome (SDS) is noteworthy and warrants further investigation.
• This case expands the known spectrum of DFSP presentation in younger individuals.