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Langerhans Cell Histiocytosis Presenting in the Neonatal Period a Retrospective Case Series

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Langerhans Cell Histiocytosis Presenting in the Neonatal Period a Retrospective Case Series ARTICLE Langerhans Cell Histiocytosis Presenting in the Neonatal Period A Retrospective Case Series Sarah L. Stein, MD; Amy S. Paller, MD; Paul R. Haut, MD; Anthony J. Mancini, MD Objectives: To describe the morphologic characteris- Results: The most common initial skin lesion was ery- tics of skin lesions, extent of extracutaneous disease, and thematous, often crusted, vesiculopustules. Skin lesion outcomes in patients with neonatal presentation of morphologic traits did not correlate with extent of ex- Langerhans cell histiocytosis (LCH), and to examine tracutaneous disease. One third of patients had disease clinical predictors of disease prognosis. limited to the skin and/or mucous membranes. All of these patients are alive and well, and 1 has developed diabetes Design: Retrospective validation cohort study. Maxi- insipidus. Twelve of the 19 patients had multisystem dis- mum duration of follow-up was 10 years. ease, and 2 died of disease. The results of a multiorgan workup performed at the time of diagnosis were predic- Setting: A tertiary care children’s hospital in Chicago, tive of which patients in this cohort manifested multi- Ill. system disease. The overall incidence of diabetes insipi- dus was 21%. Patients: Nineteen children with cutaneous findings in the first 4 weeks of life and subsequently diagnosed with Conclusions: Vesiculopustular lesions are common in LCH based on compatible tissue histologic analysis, con- congenital/neonatal LCH, but the morphologic charac- firmed by electron microscopy and/or immunohisto- teristics of lesions are not helpful in predicting the ex- chemical analysis. tent of disease. A multiorgan evaluation at the time of diagnosis may be predictive of the probability of multi- Main Outcome Measure: Cutaneous lesion morpho- system involvement with LCH. logic characteristics, extracutaneous manifestations, treat- ments, and outcomes were tabulated and compared. Arch Pediatr Adolesc Med. 2001;155:778-783 HE HISTIOCYTOSES are a group Patients with LCH demonstrate a va- of disorders that encom- riety of clinical presentations and pos- passes a wide range of pri- sible outcomes. The term LCH and the his- mary and secondary, soli- torical term histiocytosis X encompass 3 tary and multiple, and classic clinical entities, which are now Tbenign and malignant conditions. They are considered to be variations of the same unified by their common cell of origin, the disease: (1) eosinophilic granuloma (lo- histiocyte. The clinical findings associated calized lesions in bone); (2) Hand- with these conditions depend on the ex- Schu¨ ller-Christian disease (multiple or- From the Departments of tent of organ systems involved. Several clas- gan involvement with the classic triad of Dermatology (Drs Stein, Paller, sification schemes have been proposed to skull defects, diabetes insipidus [DI], and and Mancini) and Pediatrics better delineate the specific conditions and exophthalmos); and (3) Letterer-Siwe dis- (Drs Paller, Haut, and to decrease confusion stemming from the ease (visceral lesions involving multiple Mancini), Northwestern historical use of multiple eponyms. The organs).1 A fourth clinical entity termed University Medical School, and most familiar classification includes Langer- congenital self-healing reticulohistiocyto- the Divisions of Dermatology hans cell histiocytosis(LCH), non-Langerhans sis (Hashimoto Pritzker variant) has been (Drs Stein, Paller, and cell histiocytoses, and malignant histiocytic described in which skin lesions are pres- Mancini) and disorders. The presence or absence of the pa- ent at birth, accompanied in rare cases by Hematology/Oncology thognomonic Langerhans cell organelle, the systemic findings, and with complete spon- (Dr Haut), Children’s Memorial 2,3 Hospital, Chicago, Ill. Dr Stein Birbeck granule, within the pathologic his- taneous involution within 2 to 3 months. is now with the Division tiocyte, and the findings on immunohisto- Particularly challenging are those pa- of Dermatology, University chemical studies help in distinguishing these tients presenting as newborns with a di- of Chicago. various disorders. verse array of less classic skin lesions such (REPRINTED) ARCH PEDIATR ADOLESC MED/ VOL 155, JULY 2001 WWW.ARCHPEDIATRICS.COM 778 ©2001 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 intent of identifying trends useful in formulating prog- nostic projections. METHODS RESULTS Nineteen patients with LCH onset with cutaneous in- volvement within the first 4 weeks of life were seen Table 1 summarizes patient characteristics, presenta- at Children’s Memorial Hospital from 1988 to 1998. tion, treatment, and clinical course. Nineteen patients were A retrospective review of the medical records from followed up for a mean of 3.2 years (range, 2 months to the pediatric dermatology clinical database at Chil- 10 years). Thirteen (68%) of 19 patients were male. Four- dren’s Memorial Hospital was performed, along with teen of the 19 patients had skin lesions noted at birth. In a review of relevant photographic documentation of all but patient 7, the diagnosis was ultimately made by the cutaneous lesions, if available. The following pa- skin biopsy. In this patient, the diagnosis was rendered rameters were evaluated: age when signs and symp- based on results of lymph node biopsy; the skin lesions toms initially manifested, morphologic characteris- tics of cutaneous lesions, age at diagnosis, additional were clinically consistent with the seborrheic form of LCH. organ involvement, therapy administered, course, and The mean age at diagnosis was 3.5 months (range, 2 days outcome, including delayed sequelae. Diagnosis was to 20 months). Delays in diagnosis were owing to mis- contingent on tissue biopsy with routine histologi- diagnoses such as psoriasis and other chronic dermatiti- cal analysis revealing changes consistent with LCH des prior to presentation to our institution. and with confirmation by electron microscopic find- Twelve (63%) of the 19 patients had multisystem ings of Birbeck granules, and/or S100 or CD1a posi- disease, defined as involvement of skin and/or mucous tivity on immunostaining. membranes, as well as at least 1 other system, including Routine histological analysis was performed on bone, lymph nodes, mastoids or middle ears, central ner- full-thickness biopsy specimens obtained by punch vous system, eye, gastrointestinal tract, bone marrow, or biopsy of involved skin. All specimens were fixed in formalin solution, embedded in paraffin, sectioned, solid organs. Diabetes insipidus was considered sepa- and stained with hematoxylin-eosin for light micro- rately. The remaining 7 (37%) of 19 patients manifested scopic examination. Histologic interpretation was per- purely cutaneous and/or mucous membrane (“lim- formed by experienced pathologists and dermatopa- ited”) disease. One of these 7 patients (patient 17) de- thologists in our institution. veloped DI at age 3 years. Electron microscopy was performed on fresh The various morphologic traits of skin lesions are tissue fixed in Karnovsky medium (paraformalde- listed in Table 2. Most common were erythematous ve- hyde-glutaraldehyde). Postfixation was performed siculopustules (Figure 1), often with crusting (10 in 2% osmium tetroxide in the same buffer. Tissue patients). Eczematous scaling lesions in a seborrhea- was dehydrated through graded concentrations of like distribution (Figure 2) were also common (7 pa- ethanol, 50% through absolute, and propylene ox- ide and embedded in Spurr and Araldite resin. tients) and tended to present later, within the first month Ultrathin sections were cut at 60 to 70 nm using an of life. Oral mucosal lesions, including erosions ultramicrotome and were stained with saturated ura- (Figure 3) and petechiae, were seen in 4 of the pa- nyl acetate in water and then with Reynolds lead tients (20%). There was no clear difference between the citrate. Stained sections were studied in an electron morphologic characteristics of the mucocutaneous le- microscope at an accelerating voltage of 75 to 100 kV. sions in those who had multisystem disease vs those with Immunostaining was performed on paraffin- limited disease, although all of the patients with limited embedded tissue sections labeled with S100 poly- disease had skin lesions present at birth. Only one of the clonal antibody (Dako Corp, Carpinteria, Calif) or patients with limited disease had lesions with an eczema- CD1a monoclonal antibody (Immunotech, Mar- tous/seborrheic dermatitis appearance. seilles, France). Sections were deparaffinized and stained with the avidin-biotin complex procedure The diagnosis of LCH was confirmed in 18 of 19 cases (Vectastain Elite ABC Kit with DAB chromogen; Vec- by histopathologic examination of skin biopsy samples; tor Laboratories, Burlingame, Calif). in 1 patient the diagnosis was based on the results of lymph node biopsy. There were no significant differences in his- topathologic findings between patients with multisys- tem disease and those with limited disease. Representa- as vesiculopustules, nodules, or eczematous dermatitis. tive skin sections routinely stained with hematoxylin- Based on their cutaneous findings, the diagnosis of LCH eosin revealed a primarily dermal infiltrate composed of in these patients may be missed initially. There is a rela- aggregates of large histiocytic cells with eccentrically tive paucity of published data on outcomes observed in placed grooved nuclei, having the appearance of being the
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