Work

Cutaneous Limited Langerhans Cell Histiocytosis Complicated by Late-onset Panhypopituitarism

Year: 2025

Type: article

Abstract: Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder infrequently complicated by delayed-onset pituitary disease. A 41-year-old female presented with papular, acneiform skin lesions. Shave biopsy demonstrated a superficial dermal epithelioid cell proliferation with S100, CD1a, and langerin positivity on immunohistochemistry and a BRAF p.N486_P490del inframe deletion-gain of function pathogenic variant on next-generation sequencing. The skin lesions spontaneously resolved. One year later, she developed progressive fatigue, fevers, anorexia, menstrual irregularities, polyuria, and polydipsia. Laboratory workup was consistent with panhypopituitarism. Pituitary magnetic resonance imaging noted mass-like thickening and enhancement of the infundibulum extending toward the hypothalamus. After treatment with cobimetinib, magnetic resonance imaging findings resolved but endocrinopathies persisted, requiring indefinite hormone therapy. This case demonstrates the full spectrum of endocrinopathies of LCH-induced pituitary disease and is an unusual circumstance of LCH with delayed-onset panhypopituitarism.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf138

Authors: Nehaal Ahmed, Caroline Davidge-Pitts, Emma Johnson, Jason Young, Ronald S Go

Institutions: Mayo Clinic, Mayo Clinic in Florida

Language: English

Topic: Histiocytic Disorders and Treatments

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930