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Unusual Variants of Non-Langerhans Cell Histiocytoses

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Unusual Variants of Non-Langerhans Cell Histiocytoses REVIEWS Unusual variants of non-Langerhans cell histiocytoses Ruggero Caputo, MD,a Angelo Valerio Marzano, MD,a Emanuela Passoni, MD,a and Emilio Berti, MDb Milan, Italy Histiocytic syndromes represent a large, heterogeneous group of diseases resulting from proliferation of histiocytes. In addition to the classic variants, the subset of non-Langerhans cell histiocytoses comprises rare entities that have more recently been described. These last include both forms that affect only the skin or the skin and mucous membranes, and usually show a benign clinical behavior, and forms involving also internal organs, which may follow an aggressive course. The goal of this review is to outline the clinical, histologic, and ultrastructural features and the course, prognosis, and management of these unusual histiocytic syndromes. ( J Am Acad Dermatol 2007;57:1031-45.) istiocytic syndromes represent a large, puzzling group of diseases resulting from Abbreviations used: proliferation of cells called histiocytes.1 BCH: benign cephalic histiocytosis H ECD: Erdheim-Chester disease The term ‘‘histiocyte’’ includes cells of both the GEH: generalized eruptive histiocytosis monocyte-macrophage series and the Langerhans HPMH: hereditary progressive mucinous cell (LC) series, both antigen-processing and anti- histiocytosis 1 IC: indeterminate cell gen-presenting cells deriving from CD34 progeni- ICH: indeterminate cell histiocytosis tor cells in the bone marrow. JXG: juvenile xanthogranuloma In 1987, the Histiocyte Society proposed a classi- LC: Langerhans cell LCH: Langerhans cell histiocytoses fication of histiocytic syndromes based on 3 classes: MR: multicentric reticulohistiocytosis (1) class I, corresponding to LC histiocytoses (LCH); PNH: progressive nodular histiocytosis (2) class II, encompassing the histiocytoses of mon- PX: papular xanthoma onuclear phagocytes other than LC (non-LCH); and SBH: sea-blue histiocyte 2 SBHS: sea-blue histiocytic syndrome (3) class III, comprising the malignant histiocytoses. XD: xanthoma disseminatum In addition to the classic variants listed in Table I, the group of non-LCH includes unusual or extremely rare disorders that have more recently been de- forms affecting only the skin or the skin and mucous scribed (Table II). Indeed, among the latter, indeter- membranes, such as hereditary progressive muci- minate cell (IC) histiocytosis (ICH) is a disease in nous histiocytosis (HPMH) and progressive nodular which the predominant cells have the characteristics histiocytosis (PNH), and forms involving also inter- of both LC and macrophages3 and whose actual nal organs, such as ErdheimeChester disease (ECD) existence as a separate entity is still debated.4 More- and sea-blue histiocytic (SBH) syndrome (SBHS). over, this heterogeneous group comprises both The former usually have a benign clinical behavior, whereas the latter may follow a progressive course. Thus, the purpose of this review is to schemati- From the Institute of Dermatological Sciences, University of cally outline the clinical, histologic, and ultrastruc- MilaneFondazione IRCCS Ospedale Maggiore Policlinico, tural findings and the course, prognosis and a Mangiagalli e Regina Elena ; and Department of Clinical and management of these uncommon histiocytic syn- Preventive Medicine, University of Milano-Bicocca.b Funding sources: None. dromes on the basis of both our personal experience Conflicts of interest: None declared. and an accurate review of the literature. The clinical Reprint requests: Angelo Valerio Marzano, MD, Institute of Derma- characteristics, course, and management of these tological Sciences, Via Pace 9e20122, Milano, Italy. E-mail: francesca. unusual variants of non-LCH are summarized in [email protected]. Table III, whereas their histopathologic, immuno- Published online May 10, 2007. 0190-9622/$32.00 histochemical, and ultrastructural features are indi- ª 2007 by the American Academy of Dermatology, Inc. cated in Table IV. Markers and antibodies used for doi:10.1016/j.jaad.2007.03.014 immunohistochemistry are listed in Table V. 1031 1032 Caputo et al JAM ACAD DERMATOL DECEMBER 2007 Table I. Classic forms of non-Langerhans cell Table II. Unusual variants of non-Langerhans cell histiocytosis, abbreviations used histiocytosis, abbreviations used GEH, generalized eruptive histiocytosis ICH, indeterminate cell histiocytosis BCH, benign cephalic histiocytosis PNH, progressive nodular histiocytosis JXG, juvenile xanthogranuloma HPMH, hereditary progressive mucinous histiocytosis PX, papular xanthoma ECD, Erdheim-Chester disease XD, xanthoma disseminatum SBHS, sea-blue histiocytic syndrome NX, necrobiotic xanthogranuloma SHML, sinus histiocytosis with massive lymphadenopathy MR, multicentric reticulohistiocytosis lymphocytes to mite antigens.27,28 On the other hand, the development of generalized eruptive ICH at the site of already healed pityriasis rosea has also INDETERMINATE CELL HISTIOCYTOSIS been described, further suggesting that ICH may Definition occur as a lymphohistiocytic reaction to various In 1985, Wood et al5 first described as ICH an antigens.9 However, in our view, such cases should unusual, distinctive variant of cutaneous histiocytosis be regarded as distinct from classic ICH. whose cardinal features, distinguishing it from LCH, Mucous membranes are always spared. Usually, were: (1) lack, on ultrastructural study, of Birbeck there is no visceral involvement and the patients are granules; (2) absence, on histology, of epidermotro- in good general health. pism; and (3) lack of extracutaneous involvement. Furthermore, advances in the immunophenotypic Laboratory findings characterization of histiocytic dendritic cells and Routine laboratory tests and radiographic investi- macrophages subsequently led to the demonstration gations usually show nonabnormalities. that the IC expressed both LC and monocyte/macro- phage markers, ie, S-100/CD1 and CD68/CD14, re- Histopathologic, immunohistochemical, spectively.6 Various hypotheses have been proposed and ultrastructural findings on the origin of IC, ie, whether IC are immature Light-microscopic evaluation reveals an infiltra- precursors of LC, LC are precursors of IC, or both are tion of histiocytic cells in the whole dermis and independent types of dendritic cells.7 sometimes within the epidermis. The proliferating cells show an abundant, pale eosinophilic cytoplasm Age of onset and incidence and large, irregularly folded or twisted nuclei. A few ICH affects predominantly adults, showing no mitotic figures and multinucleated giant cells may sex- or age-specific predilection, although about one be observed. Clusters of lymphocytes are admixed third of the cases so far reported in the literature are (Fig 2). pediatric.4,8-15 Immunohistochemically, the proliferating cells Since the original description of Wood et al,5 only are KP1 (CD68)1, S-1001, CD1a1, and factor e about 20 cases of ICH had been reported, until a XIIIa .5,16,18,20,24 In summary, these cells display recent study on a large collection that included 18 similar histologic and antigenic features to LC. Ultra- patients with ICH.4 structurally, however, they differ in that Birbeck granules are absent.12,18,20,24 Clinical findings Two clinical subtypes seem to predominate: Course and prognosis a solitary nodular form11-14,16 (Fig 1, A) and a multiple Based on a review of the literature that includes papulonodular form3,5,6,8-10,15,17-26 (Fig 1, B). The the recent report by Ratzinger et al,4 15 patients former is usually characterized by a single, soft red presenting with solitary lesions and showing a asymptomatic nodule about 1 cm in diameter; the benign clinical course exist11-14,16; among these, latter presents with a widespread eruption of multi- two patients presented at birth with a solitary nodule ple, firm asymptomatic lesions ranging in size from a that spontaneously regressed12 or was removed by few millimeters to 1 cm, varying in color from dark shave excision13 without relapse, respectively. red to brownish and covered by intact skin. On the other hand, 24 cases with widespread The multiple nodular form has also been docu- cutaneous lesions have been described,3,5,6,8-10,15,17-26 mented as part of nodular scabies, a persistent the majority of which having an indolent or self- reaction after acute scabies infestation, possibly limited course; indeed, in a number of reported cases representing a prolonged response of IC and treatment and follow-up were not stated.3,6,8,18,20,21 JAM ACAD DERMATOL Caputo et al 1033 VOLUME 57, NUMBER 6 Table III. Cutaneous findings, associated abnormalities, course, and treatment of unusual variants of non-Langerhans cell histiocytosis ICH PNH HPMH ECD SBHS Age/sex Adults [ Children [ Heredity; Middle-aged and Sometimes familial; children adults beginning in older adults beginning in adolescence adolescents or or childhood; young adults mainly women Type of lesion Dark-red to Yellow-brown or Skin-colored, Red-brown Nodules and waxy brownish yellow-pink red, or yellowish papules merg- plaques; macular papules or papules or papules or ing into brownish nodules nodules nodules plaques; hyperpigmentation the lesions may become slack and atrophic Pattern Solitary Generalized, Multiple lesions; Multiple lesions; Multiple lesions nodular form; with random symmetric symmetric multiple pap- distribution distribution distribution ulonodular form Localization No Sometimes, Face, hands, Eyelids, axillae, Prominent facial preferentially prominent facial forearms, legs groin, neck, involvement; trunk, involved
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