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Solitary congenital self-healing Langerhans cell histiocytosis: A benign variant of Langerhans cell histiocytosis?

  • Author(s): Yurkovich, Marko
  • Wong, Aaron
  • Lam, Joseph M
  • et al.
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Solitary congenital self-healing Langerhans cell histiocytosis: A benign variant of Langerhans cell histiocytosis?
Marko Yurkovich BSc, Aaron Wong MD, Joseph M Lam MD
Dermatology Online Journal 19 (1): 3

University of British Columbia, Vancouver, BC, Canada

Abstract

Langerhans cell histiocytosis (LCH) represents a diverse group of diseases with various different clinical presentations and outcomes. We present two cases of solitary CSH-LCH (sCSH-LCH) and highlight certain unique characteristics including the favorable prognosis and lack of documented progression to systemic involvement in reported cases.



Introduction

Langerhans cell histiocytosis (LCH) represents a diverse group of diseases with various different clinical presentations and outcomes. It is characterized by the proliferation and accumulation of Langerhans cells in a variety of organs [1, 2]. The clinical presentation of LCH may vary from single-system, unifocal, bone, or cutaneous skin disease to systemic disseminated disease, affecting multiple organs including the lungs, liver, spleen, and lymphatic system [3]. Congenital self-healing Langerhans cell histiocytosis (CSH-LCH) is a rare form of LCH, characterized by a skin-only presentation consisting of asymptomatic red-brown papulonodules, which present at birth or in the newborn period and resolve spontaneousy within a few weeks to months [2, 4, 5, 6]. This condition was first reported by Hashimoto and Pritzker in 1973 [7]. CSH-LCH typically presents with multiple lesions. However, the monolesional, solitary variant is uncommon, with less than 50 cases reported in the literature to date. We present two cases of solitary CSH-LCH (sCSH-LCH) and highlight certain unique characteristics including the favorable prognosis and lack of documented progression to systemic involvement in reported cases.


Case 1

Figure 1Figure 2a
Figure 1. A solitary brown-erythematous nodule with overlying crust on the right hip

Figure 2a. Nodular infiltrate at the dermal-epidermal junction with spongiosis and epidermotropism (H&E x100).

Figure 2bFigure 2c
Figure 2b. Individual Langerhans cells show reniform-shaped, grooved nuclei. An admixture of multinucleated giant cells, foamy histiocytes, and eosinophils is also present (H&E x400)

Figure 2c. CD1a immunohistochemical stain shows positive staining (x200).

Figure 2d
Figure 2d. Diffuse S100 positivity of Langerhans cells is noted

A three-day-old female newborn presented with a 1.5 cm congenital solitary brown-erythematous nodule with overlying crust on the right hip (Figure 1). She had no hepatosplenomegaly or lymphadenopathy. A biopsy (Figures 2a through 2d) revealed S100 and CD1a positive large, ovoid cells with abundant eosinophilic cytoplasm and eccentric reniform-nuclei, consistent with LCH. A chest X-ray and bone scan were negative. Full blood count, liver enzymes, renal function tests, serum chemistry, coagulation studies, and urinalysis were all within normal limits. The biopsy site healed with no evidence of residual disease. On follow up at two years of age, there has been no evidence of systemic involvement or recurrence.


Case 2

Figure 3Figure 4a
Figure 3. A crusted nodule over the right flank

Figure 4a. A mixture of polygonal to elongated Langerhans cells with reniform nuclei, lymphocytes, histiocytes, and “ground glass” Touton giant cells is seen (H&E x100).

Figure 4bFigure 4c
Figure 4b. Langerhans cells, Touton giant cells, and lymphohistiocytes are seen (H&E x400).

Figure 4c. CD1a positive staining highlights the Langerhans cells with blue nuclei and brown granular cytoplasm.

Figure 4d
Figure 4d. S100 positive staining demonstrating Langerhans cells

A 30-day-old female neonate presented with a 1.8 cm congenital crusted nodule over the right flank (Figure 3). Physical examination revealed no jaundice, hepatosplenomegaly, or lymphadenopathy. A biopsy (Figures 4a through 4d) revealed a dense infiltrate, which included Langerhans cells with reniform nuclei and voluminous cytoplasm. These cells exhibited CD1a and S100 positivity consistent with a diagnosis of LCH. Full blood count, serum chemistry, renal function tests, skeletal survey, and urinalysis were within the normal range. She had transient elevation of her alkaline phosphatase and unconjugated bilirubin, which normalized over time. As of last follow-up at 13 months of age, she had no evidence of systemic involvement or residual disease.


Discussion

sCSH-LCH is a congenital, cutaneous, localized, single-system, single site variant of LCH (2). There is currently a lack of validated diagnostic criteria for sCSH-LCH. However, a review of previously reported cases [5-13], in addition to our own two patients, reveals specific characteristics associated with the condition. sCSH-LCH typically presents as a single red to brown papular or nodule. The lesions may present anywhere on the body, but appear most commonly on an extremity and less commonly on the trunk or face. Over time the lesions may ulcerate and crust. The solitary skin lesions of both our patients, as illustrated in Figures 1 and 3, clearly demonstrate both the nodular and ulcerated features typically observed in lesions of sCSH-LCH patients [5-13]. Immunohistochemical staining of the biopsied samples from our two patients revealed S100 and CD1a positive Langerhans cells, as demonstrated in Figures 2 and 4. These results are not only consistent with a diagnosis of LCH, but also with the majority of reported cases of sCSH-LCH [5-13].

LCH, which presents as a single system cutaneous disease had previously been thought to be a benign disease with a good prognosis [2, 3]. However, Lau et al found that of patients with LCH who initially presented with skin-only involvement at birth, 50 percent of cases had lesions that did not self-heal and progressed to multisystem disease requiring treatment with systemic chemotherapy [3]. In all of these cases, the patients had multiple cutaneous lesions. Unfortunately, there were no features that could predict which patients would progress from localized cutaneous LCH to systemic disease [1, 2]. Even after lesions exhibit spontaneous resolution, rare relapses have been reported involving the recurrence of cutaneous lesions, as well as progression to visceral involvement [3, 14]. For this reason, there is currently some confusion and debate about the extent of necessary work-up and follow-up for patients with sCSH-LCH. In the case of our two patients, both had self-resolving lesions and on follow-up no visceral involvement or recurrence has been observed. This is consistent with the body of sCSH-LCH cases reported thus far; none has been shown to progress or develop recurrence of disease [5-13, 15]. Although we do not wish to be cavalier in our approach to management of patients with CSH, it would appear that extensive and invasive investigations (such as bone marrow biopsy) are not warranted.

As suggested by Zunino-Goutorbe et al, it would seem reasonable to recommend that in the absence of systemic involvement, regular physical examination for at least two years with repetition of blood work at 6 months is a valid approach in the long term management of patients with CSH [13]. Short-term management should include biopsy with immunohistochemical staining [3, 13] to confirm the diagnosis in conjunction with appropriate physical examination and laboratory investigations to rule out systemic involvement. It should be noted that because of the self-healing nature of the solitary lesions in CSH, the true incidence of the condition is likely underreported [13]. Nevertheless, with the addition of our two cases, our report lends further support to the notion that sCSH-LCH may be a benign, self-healing variant of LCH with minimal risk of progression to systemic involvement. The favorable prognosis in our cases is evidenced by the spontaneous resolution of both cutaneous and laboratory abnormalities in association with single-system, localized, skin-only disease. Thus, counseling should entail discussion of the low-risk of progression or recurrence. However, it would still be prudent to continue monitoring these patients because the potential for LCH to progress, recur, and overlap with other aggressive types of LCH is possible.

Solitary congenital self-healing Langerhans cell histiocytosis (sCSH-LCH) is a rare entity that is being described more often. We hope that these two additional reported cases of this rare condition will help strengthen and support our suggestions by contributing to the growing body of evidence which suggests that sCSH-LCH may truly be a benign variant of Langerhans cell histiocytosis.

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