Differentiating Skin-Limited and Multisystem Langerhans Cell Histiocytosis

Abstract

Objective To identify features associated with multisystem involvement and therapeutic failure in patients with skin Langerhans cell histiocytosis (LCH). Study design We reviewed medical records of 71 consecutive LCH patients with skin involvement evaluated at Texas Children’s Hospital and analyzed clinical features, laboratory results, and presence of circulating cells with the BRAF-V600E mutation, with respect to initial staging and clinical outcomes. Results Skin disease in patients older than 18 months at diagnosis was associated with presence of multisystem disease (OR 9.65, 95% CI 1.17–79.4). Forty percent of patients referred for presumed skin-limited LCH had underlying multisystem involvement, half of these with risk-organ involvement. Patients with skin-limited LCH had 3-year progression-free survival (PFS) of 89% after initial therapy, and none developed multisystem disease. Patients with skin/multisystem involvement had 3 year PFS of 44% with vinblastine/prednisone therapy, and risk-organ involvement did not correlate with failure to achieve non-active disease. Circulating cells with BRAF-V600E were detected at higher frequency in multisystem patients (8/11 skin/multisystem, 1/13 skin-limited, P=0.002). Conclusions Skin-limited LCH requires infrequent therapeutic intervention and has lower risk of progression relative to skin plus multisystem LCH. The less aggressive clinical course and lack of circulating cells with BRAF-V600E mutation in skin-limited LCH suggest a different mechanism of disease origin compared with multisystem or risk-organ disease.

How I treat Langerhans cell histiocytosis

“…In 1 pediatric series, median time to diagnosis from initial symptoms exceeded 3 months. 26 Anecdotally, we have treated adults who had active disease for decades before being diagnosed. The critical element for diagnosis is biopsy with characteristic histiocytes with surface expression of CD207 (langerin) and CD1a.…”

“…This diagnosis can only be made in retrospect after full evaluation for other sites of disease and then only after the lesions actually resolve 30,31 ; in an institutional series, 40% of patients referred for skin-limited LCH had multisystem disease upon further evaluation. 26 Infants with true skin-limited LCH have only a remote chance of developing LCH in another organ system, and these rare cases likely represent incompletely evaluated patients at presentation. 26 Systemic therapy is appropriate for patients who either are symptomatic with pain, secondary infection, or other complications from persistent lesions.…”

“…(Blood. 2015;126(1): [26][27][28][29][30][31][32][33][34][35] Clinical scenarios Case 1 A newborn has a scaly rash diagnosed as "cradle cap." Due to persistence despite topical therapy for 2 months, a skin biopsy is diagnostic of Langerhans cell (LC) histiocytosis (LCH).…”

Lymphadenopathy of A Newborn: Langerhans Cell Histiocytosis

“…Özelikle karaciğer, dalak, kemik iliği gibi riskli organ tutulumları olduğunda mortalitesi artmaktadır. LHH'li hastalar sıklıkla ekzama veya seboreik dermatit gibi cilt lezyonları ya da skalp tutulumu ile başvurmaktadır (1,2,3).…”

Quando os Exantemas Não São Aquilo Que Parecem

“…A histiocitose de células de Langerhans atinge duas a dez crianças por milhão. 1 A apresentação clínica é variável, com envolvimento de qualquer sistema (uni ou multissistémica), sendo o osso a localização mais frequente.…”