A 3-month-old female infant presented to her pediatrician with a history of a rash that had been present from birth. Her parents report that her rash initially involved her face and trunk, and the lesions had a red base. The rash seemed to slightly improve over the first 2 weeks of her life, but then progressed into red and brown, rough lesions involving her head, face, trunk, and spread to her back then bilateral lower extremities (Figures 214-1 and 214-2). They have also noted that her right eye has been watering and she has not been able to open it completely over the past few days. Based on the appearance and persistence of the rash, she was referred to a dermatologist, who performed a skin biopsy, which showed CD1 positive immuno-histochemical staining, consistent with the diagnosis of Langerhans Cell Histiocytosis. Further work-up included a skull film, which revealed an ocular bony lesion (Figure 214-3). She underwent treatment with a chemotherapy regimen and has done well without evidence of recurrence.
FIGURE 214-2
Multiple erythematous papules, vesicles and crusted papules on the back in the same infant as in Figure 214-1. Note the presence of some areas of postinflammatory hypopigmentation, where papules were previously present. (Used with permission from Stefanie Thomas, MD.)
FIGURE 214-3
Lytic lesion of the lateral roof of the right orbit on skull x-ray in the same infant as in Figure 214-1. (Used with permission from Stefanie Thomas, MD.)
Langerhans Cell Histiocytosis (LCH) is characterized by clonal proliferation of histiocytic cells that resemble Langerhans cells of the skin and can result in widely variable organ involvement and extent of disease.1 Because of the wide spectrum of the disease, treatment depends on extent of disease.
Eosinophilic granuloma of the bone—LCH with a single bone lesion.
Hand-Schuller-Christian Disease—LCH with Exophthalmus, Diabetes Insipidus, and skull lesions.
Letterer-Siwe Disease—Multifocal-multisystem LCH.
Hashimoto-Pritzker Disease—LCH rash in an infant which is usually self-resolving.
Histiocytosis-X.
Exact etiology remains unknown.
Exhibits features of both malignant transformation (proliferation and clonality) and immune dysregulation.1
Recently, recurrent mutations in BRAF gene have been identified.3
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