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PMH: Term male, uneventful pregnancy and birth. Breastfed. Has been growing and developing normally.
Meds: None regularly. Allergies: No known medical/food allergies. Immunizations: UTD Family History: Father has ulcerative colitis, asthma. No other known history of cancers, heart disease, blood disorders, diabetes, or genetic syndromes. Social History: First child, lives with mother and father. No travel, no smokers in the house.
PHYSICAL EXAM
GEN: Alert, smiling infant in no distress HEENT: NCAT, PERRL, EOMI. Mucous membranes moist without lesions. TM pearly bilaterally. Neck supple without lymphadenopathy.
SKIN EXAM
DIFFERENTIAL DIAGNOSIS?
LCH
Histiocytic disorder
Histiocytes: Langerhan's cells, monocytes/macrophages, dermal/interstitial dendritic cells Skin Langerhans cell is NOT the cell of origin for LCH Circulating myeloid dendritic cell that expresses the same antigens (CD1a, S100, CD207) as the skin Langerhans cell
AKA: Histiocytosis-X, Letterer-Siwe disease, HandSchuller-Christian disease, Diffuse reticuloendotheliosis, eosinophilic granuloma
LCH
3-5 cases per million children, rarer in adults Not genetic Unclear etiology
Reactive condition due to immunologic dysfunction
Expansion of regulatory T cells, altered cytokine profile
Neoplasm (not a malignancy in classic sense): protooncogene mutation in ~50% Childhood LCH is different than adult LCH
CLINICAL MANIFESTATIONS
Single system LCH: any age, typically without systemic symptoms Multisystem LCH: more common in children under 3y
Bone (77%) Lytic punched out appearance Skull > femur, rib, vertebra, humerus Skin (39%) Brown/red/purple papules Infants most common Red papular rash on groin, trunk Resembles diffuse candida rash Seborrheic involvement of scalp Lymph node (19%) Soft, matted cervical nodes Liver (16%) and spleen (13%) Hepatic dysfunction- sclerosing cholangitis Risk organs- worse prognosis Mouth (13%) Intraoral mass, ulcers, gingivitis, loose teeth Lung (10%) Poor lung function, recurrent lung infection
CNS (6%) DI- can appear to be isolated DI Neurodegeneration- ataxia, cognitive dysfunction
PATHOLOGY
Heterogenous collections of Langerhans cells
Coffee bean or twisted towel nuclei Electron photomicrograph- Birbeck bodies within the cytoplasm of a Langerhans cell tennis racket
Chest CT CBC, CMP, PT, PTT, D-Dimer Skeletal survey Urine osmolality If bony lesions: bone marrow aspirate Refer to Hematology/Oncology
Treatment Isolated skin lesions: 40% will develop multisystem involvement; option for observation vs methotrexate Single system disease: Prednisone, Vinblastine, topical therapy, excision Multisystem disease: Prednisolone + Vinblastine
RELATED DISORDERS
Juvenile Xanthogranuloma (JXG)
Benign proliferative disorder of histiocytic cells of the dermal dendrocyte phenotype Presents <2 years of age Solitary reddish/yellowish skin papule/nodule on head, neck, or upper trunk Nearly always benign, with spontaneous resolution in a few years
Hand-Schuller-Christian Disease
Multisystem LCH with classic triad:
Exophthalmos, lytic bone lesions, and DI