On the knowledge of solitary juvenile xanthogranuloma of the eyelid: a case series and literature review

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis, and it usually presents in infancy and early childhood. Up to 90% of the JXG cases are cutaneous lesions occurring in the head and neck, which are the most common sites that are involved [1‐4]. Although adults may also be affected [5], the lesions mostly occur spontaneously within the first year of life as cutaneous nodules that can be yellow or a range of other colours [6], and they can regress spontaneously [7]. JXG has been reported to represent 0.5% of all paediatric tumours [8]. The patient’s general health is not impaired, and in the absence of associated conditions, the prognosis is excellent. Extracutaneous JXG most commonly affects the eye but can occur in the bone, spleen, brain, lung, liver, and other sites [9‐13]. Ocular involvement with JXG is rare and is estimated to occur in approximately 0.3 to 10% of patients with cutaneous JXG [7, 14]. In particular, extremely rare cases of solitary eyelid lesions have been reported.

In this study, we identified patients at our institution with solitary JXG of the eyelid and evaluated their clinical details with respect to age, clinical presentation, involved sites, therapy, and outcome. Moreover, a comprehensive review of all prior English or Chinese language publications on solitary JXG of the eyelid and its comparisons with our case series has been performed here.

JXG, a disease of unknown aetiology and pathogenesis, has attracted the attention of ophthalmologists for over half a century [15]. JXG is a rare and a typically benign lesion that often presents in children below five years of age, with 85% of the patients being under the age of 1 year [15]. The iris is the most frequent anatomical part of the eye that is affected by JXG [12]. To date, eyelid JXG is an uncommon presentation, only with several individual case reports in the literature [12, 16‐32].

We described a case series of solitary eyelid JXG without any other cutaneous or systemic involvement. Although ocular JXG may occur without skin involvement, with 92% of the cases of JXG occurring in patients during the first 2 years of life [7], our study showed that more than half of the patients were older than 2 years of age at the diagnosis of a solitary eyelid JXG involving cutaneous JXG, and this was noted in both the current cases and the published cases. Eyelid lesions of JXG tend to present later than uveal lesions, but the development JXG in the third decade of life or older is rare.

Ocular JXG patients with cutaneous involvement always have multiple skin lesions. In contrast, the incidence of ocular involvement in cutaneous JXG patients was estimated to be 0.3 to 10% [7, 14]. Consistent with our report, there is a predilection for the involvement of both the skin and the eye, and lesions in the eyelid skin appear quite suddenly. The lesions are usually solitary lesions and are typically the only apparent manifestation of JXG. As in previous studies [5, 12], the eyelid is the most frequently anatomical area affected, followed by the iris and the conjunctiva.

Eyelid lesions in children are uncommon. In a survey of 398 excised eyelid lesions of children conducted by Doxanas et al. [33], the most common lesion was chalazion (20%), followed by dermoid cyst (16%), papilloma (14%), pyogenic granuloma (9%), melanocytic nevus (9%), haemangioma (7%), neurofibroma (2.5%), and molluscum contagiosum (2.5%). According to the report by Al-Faky [24], the most common benign eyelid lesion was sweat gland hidrocystoma followed by chalazion in patients aged 2 to 87 years. Based on the characteristic clinical features, we may be unaware of a subcutaneous JXG of the eyelid due to the presentation of a chalazion-like lesion in our study. JXG is the most commonly encountered cutaneous non-Langerhans cell histiocytosis [6]; however, Alkatan et al. [5] reported that only 33.7% of clinical diagnoses were in accordance with the histopathologic diagnosis. Therefore, solitary subcutaneous JXG involving the eyelid should be included in the clinical differential of eyelid lesions, and its diagnosis should be confirmed by histopathology, which is characterised by the presence of Touton giant cells in most cases of JXG.

Cutaneous JXG is a benign disorder in which a well-circumscribed dermal or dermohypodermal nodule sparing the epidermis is presented, and childhood JXG tends to be benign and self-limiting, usually regressing spontaneously over one or two years. The conservative management of these lesions has been advocated [34]. However, adult-type lesions are usually solitary and rarely resolve spontaneously [6]. Lesions that develop in patients who are 20 years of age or older (as in the previous case) may persist indefinitely [35]. According to the newly revised histiocytosis classification [6], the histopathology and phenotype of disseminated JXG are not different from those of Erdheim-Chester disease (ECD); however, JXG and ECD are non-Langerhans cell disorders arising from either a dendritic or a macrophage cell. Moreover, 20% of patients with ECD also have lesions of Langerhans cells histiocytosis [6]. ECD is an adult histiocytosis characterised by symmetrical long bone involvement, cardiovascular infiltration, retroperitoneal fibrosis, and central nervous system involvement. ECD is marked by a heterogenous clinical course with some patients having progressive and lethal disease [6]. Therefore, excision of the eyelid lesion is often chosen due to aesthetics or especially for diagnostic purposes, as was done in our report. According to a previous report that lesion excision is an adequate treatment [36], our patients with isolated eyelid JXG had no local recurrence following surgical excision with a median follow-up duration of 27.0 months. As previously reported, if recurrence occurs after a period of observation, surgical excision and a biopsy of each edge or low-dose radiotherapy may be effective to treat recurrent lesions [16, 20].

Solitary eyelid JXG should be included in the differential diagnosis of benign eyelid masses in all age groups. The diagnosis of solitary eyelid JXG should be based not only on the clinical characteristics but also on histopathological features. Complete excision may benefit patients with solitary eyelid JXG.