MORNING REPORT MAY 15, 2013

KATHY GARCIA, PGY3

CHIEF COMPLAINT: RASH

HPI: 6 month old male presents with 1 month of rash on back, neck, scalp, groin. Mother first noted a diaper rash after his 4 month checkup. Since then has spread and developed raised red spots all over trunk. He doesnt scratch at the rash, but it does seem to be sensitive or tender. In diaper area there has been some weeping, but otherwise no crusts, vesicles, bleeding. He does also have a history of dry skin on his cheeks. Mother has tried diaper cream, vaseline, and unknown OTC anti-inflammatory cream on rash without improvement. ROS: No fevers, vomiting, diarrhea, cough, congestion, rhinorrhea, change in alertness, weight loss, change in urination. A little more fussy.

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.

CV: RRR, no murmur. Femoral pulses 2+.

Lungs: CTAB without increased WOB. Abd: Soft, NTND, with active bowel sounds. No hepatosplenomegaly. GU: Normal male, circumcised. Testes descended bilaterally.

SKIN EXAM

DIFFERENTIAL DIAGNOSIS?

LANGERHANS CELL HISTIOCYTOSIS

Paul Langerhans (18471888)
German physician Islets of Langerhans In 1868, while still in medical school, Langerhans stained a sample of human skin with gold chloride and identified the cells which bear his name. From their appearance, Langerhans believed they were nerve cells. Exempted from oral boards

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

WORK-UP AND TREATMENT

Workup First: Biopsy!
Diagnosis = +immunohistochemical staining or Birbeck granules on EM

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