Case for diagnosis. Hashimoto-Pritzker disease

Area of Science:

• Dermatology
• Pediatrics
• Histiocytosis

Background:

• Langerhans cell histiocytosis (LCH) is a rare, heterogeneous disease with overlapping clinical variants.
• The Hashimoto-Pritzker variant of LCH is characterized by congenital onset, skin-limited involvement, and a favorable prognosis.

Observation:

• A newborn male presented with a single congenital perianal lesion.
• The lesion was positive for S100 and CD1a markers, consistent with LCH.
• The lesion showed rapid involution over a two-month period.

Findings:

• This case represents a rare presentation of Hashimoto-Pritzker disease.
• The perianal location and rapid spontaneous resolution are notable features.
• Immunohistochemical markers confirmed the diagnosis.

Implications:

• This case expands the understanding of LCH clinical presentations in newborns.
• It highlights the importance of recognizing rare variants for appropriate management.
• Early diagnosis and observation may be key for favorable outcomes in such cases.