CASE REPORT I
The patient is a 1-year and 9-month-old female child who presented with
pancytopenia and a history of atopic and seborrheic dermatitis, repeated
febrile otitis, impetigo on the scalp, extensive skin lesions on the
perineum, and difficulty walking for 3 months. Initially suspected of
leukemia due to pancytopenia, further examination revealed pale skin,
lichenized skin lesions on the neck, erythematous and moist skin lesions
on various body parts, including the perineum, as well as
hepatosplenomegaly and suppurative otitis.
CT scans showed numerous osteolytic lesions affecting multiple bones,
including the skullcap, skull base, maxilla, mandible, scapulae, ribs,
vertebrae, pelvis, and proximal femurs, in addition to
hepatosplenomegaly. Skin biopsy, bone marrow biopsy, and cerebrospinal
fluid collection confirmed the diagnosis of Multisystem Histiocytosis
(MS-LCH) with involvement of risk organs (liver, spleen, and bone
marrow) and bone structures.
The patient initially received vinblastine and prednisolone but
exhibited refractory disease. Second-line therapy with Cladribine and
Cytarabine also did not eliminate bone marrow infiltration. After a BRAF
V600E mutation test confirmed the mutation, treatment with Vemurafenib
was initiated, leading to significant improvements in bone marrow
infiltration and skin lesions. The patient currently takes Vemurafenib
without significant side effects, maintaining an excellent quality of
life at 4 years and 11 months of age.