D
CP
CED
CPD • A memorable patient
Clinical and Experimental Dermatology
Juvenile xanthogranuloma with bilateral retinal detachment C. Kwok1 and S. M. Clark2 1
Dermatology Department, Royal Bolton Hospital, Bolton, UK; and 2Dermatology Department, Chapel Allerton Hospital, Leeds, UK
doi:10.1111/ced.12597 Juvenile xanthogranuloma (JXG) is a benign tumour of histiocytes, predominantly seen in infancy and early childhood, which affects mainly the skin, with single or multiple lesions most commonly on the head and neck. Extracutaneous JXG is rare, and most commonly affects the eyes. Ocular JXG is usually unilateral, and commonly involves the iris with spontaneous hyphema. A 19-month-old South Asian boy presented to the ophthalmology department with exotropia and loss of vision in both eyes. There was no history of previous medical problems or developmental delay, and there was no relevant family history. Fundoscopy showed white veils of fibrosis in the vitreous and on the retina, and ‘snowballs’ in the vitreous that raised the suspicion of endophytic retinoblastoma. Examination under general anaesthesia showed bilateral retinal detachment. Differential diagnoses included bilateral retinoblastoma, inflammatory causes (toxocariasis and toxoplasmosis) and congenital bilateral retinal detachment. Ultrasonography did not show calcifications (commonly seen with retinoblastoma), and serology was negative for Toxocara and Toxoplasma. An ophthalmic oncology specialist ruled out retinoblastoma. Magnetic resonance imaging of the brain was normal, but showed increased enhancement around the left orbit. During inpatient management for these tests, the patient was noted to have a number of facial skin lesions, and was referred to the dermatology department. There were no cutaneous changes elsewhere. The first lesion was reported by the parents to have appeared on right side of the child’s face shortly after birth, and he had since developed further similar lesions on both cheeks. On physical examination, 24 red/brown smooth papular lesions, ranging from 1 to 7 mm in size, were noted on the child’s face (Fig. 1a); a dermatoscopic photograph is shown in Fig. 1b. JXG was suspected Correspondence: Dr Chung Kwok, Dermatology Department, Royal Bolton Hospital, Minerva Road, Farnworth, Bolton, BL4 0JR, UK E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 16 September 2014
706
Clinical and Experimental Dermatology (2015) 40, pp706–707
(a)
(b)
Figure 1 (a) Ruddy brown papules on the left cheek of varying
size; (b) dermatoscopic appearance of a lesion.
and confirmed by biopsy (Fig. 2). The parents refused consent for retinal biopsy. Given the diagnosis of cutaneous JXG, without evidence of another cause of bilateral retinal detachment, the ophthalmology department considered that the child’s ocular problems were likely to be due to JXG. He was treated with a 4-week reducing course of oral prednisolone from 20 mg/day, without improvement. The ophthalmology specialist considered that the changes were unfortunately irreversible, and no further intervention was carried out.
ª 2015 British Association of Dermatologists
Table 1 Previous case reports of retinal detachment due to juvenile xanthogranuloma.
Patients
Site
1 2
Face, retina Iris, retinal and subretinal spaces Optic nerve and optic disc
3
Number of skin lesions
Age at presentation
Ethnicity
Treatment
Other associations
Multiple None
11 months 2 years
White Unknown
Initial improvement with systemic steroids Enucleation of the blind, painful eye
None None
None
20 months
Unknown
Enucleation and optic nerve resection for the blind eye with neovascular glaucoma
None
rarely involves the retina and posterior segment. Visual loss can occur from hyphema and secondary glaucoma as a result of involvement of the iris. Visual loss can also result from retinal and optic nerve involvement with or without retinal detachment. There have been three reported cases of unilateral retinal detachment due to pathologically confirmed JXG4–6 (Table 1). To our knowledge, this is the first reported case of bilateral retinal detachment with JXG.
Acknowledgement We thank Dr W. J. Merchant, Consultant Histopathologist, St James’ University Hospital, Leeds, UK, for his assistance with this case.
Figure 2 Touton giant cells and foamy histiocytes (haematoxylin
and eosin, original magnification 9 400).
In patients with cutaneous JXG, ocular complications have been reported in 0.4–10% of cases.1,2 Most cases of ocular JXG have occurred simultaneously with cutaneous lesions or within 2 years of their development. However, ocular JXG may occur without cutaneous involvement.3 Children under 2 years of age with multiple cutaneous JXGs are at greatest risk of ocular involvement, and therefore ophthalmology surveillance should be considered.3 Parents of children with cutaneous JXG should be advised to seek ophthalmology review if there is new eye pain, redness, squint or visual disturbance. It is unclear why JXG has a predilection for the eye. Ocular JXG can present with masquerading uveitis, heterochromia, hyphema and secondary glaucoma. It
ª 2015 British Association of Dermatologists
References 1 Liang S, Liu YH, Fang K. Juvenile xanthogranuloma with ocular involvement. Pediatr Dermatol 2009; 26: 232–4. 2 Karcioglu ZA, Mullaney PB. Diagnosis and management of iris juvenile xanthogranuloma. J Pediatr Ophthalmol Strabismus 1997; 34: 44–51. 3 Chang MW, Frieden IJ, Good W. The risk of intraocular juvenile xanthogranuloma: survey of current practices and assessment of risk. J Am Acad Dermatol 1996; 34: 445–9. 4 Hildebrand GD, Timms C, Thompson DA et al. Juvenile xanthogranuloma with presumed involvement of the optic disc and retina. Arch Ophthalmol 2004; 122: 1551–5. 5 Zamir E, Wang RC, Krishnakumar S et al. Juvenile xanthogranuloma masquerading as pediatric chronic uveitis: a clinicopathologic study. Surv Ophthalmol 2001; 46: 164–71. 6 Wertz FD, Zimmerman LE, McKeown CA et al. Juvenile xanthogranuloma of the optic nerve, disc, retina and choroid. Ophthalmology 1982; 89: 1331–5.
Clinical and Experimental Dermatology (2015) 40, pp706–707
707
D CP
A memorable patient
CP
CED
CPD • A memorable patient
Clinical and Experimental Dermatology
Juvenile xanthogranuloma with bilateral retinal detachment C. Kwok1 and S. M. Clark2 1
Dermatology Department, Royal Bolton Hospital, Bolton, UK; and 2Dermatology Department, Chapel Allerton Hospital, Leeds, UK
doi:10.1111/ced.12597 Juvenile xanthogranuloma (JXG) is a benign tumour of histiocytes, predominantly seen in infancy and early childhood, which affects mainly the skin, with single or multiple lesions most commonly on the head and neck. Extracutaneous JXG is rare, and most commonly affects the eyes. Ocular JXG is usually unilateral, and commonly involves the iris with spontaneous hyphema. A 19-month-old South Asian boy presented to the ophthalmology department with exotropia and loss of vision in both eyes. There was no history of previous medical problems or developmental delay, and there was no relevant family history. Fundoscopy showed white veils of fibrosis in the vitreous and on the retina, and ‘snowballs’ in the vitreous that raised the suspicion of endophytic retinoblastoma. Examination under general anaesthesia showed bilateral retinal detachment. Differential diagnoses included bilateral retinoblastoma, inflammatory causes (toxocariasis and toxoplasmosis) and congenital bilateral retinal detachment. Ultrasonography did not show calcifications (commonly seen with retinoblastoma), and serology was negative for Toxocara and Toxoplasma. An ophthalmic oncology specialist ruled out retinoblastoma. Magnetic resonance imaging of the brain was normal, but showed increased enhancement around the left orbit. During inpatient management for these tests, the patient was noted to have a number of facial skin lesions, and was referred to the dermatology department. There were no cutaneous changes elsewhere. The first lesion was reported by the parents to have appeared on right side of the child’s face shortly after birth, and he had since developed further similar lesions on both cheeks. On physical examination, 24 red/brown smooth papular lesions, ranging from 1 to 7 mm in size, were noted on the child’s face (Fig. 1a); a dermatoscopic photograph is shown in Fig. 1b. JXG was suspected Correspondence: Dr Chung Kwok, Dermatology Department, Royal Bolton Hospital, Minerva Road, Farnworth, Bolton, BL4 0JR, UK E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 16 September 2014
706
Clinical and Experimental Dermatology (2015) 40, pp706–707
(a)
(b)
Figure 1 (a) Ruddy brown papules on the left cheek of varying
size; (b) dermatoscopic appearance of a lesion.
and confirmed by biopsy (Fig. 2). The parents refused consent for retinal biopsy. Given the diagnosis of cutaneous JXG, without evidence of another cause of bilateral retinal detachment, the ophthalmology department considered that the child’s ocular problems were likely to be due to JXG. He was treated with a 4-week reducing course of oral prednisolone from 20 mg/day, without improvement. The ophthalmology specialist considered that the changes were unfortunately irreversible, and no further intervention was carried out.
ª 2015 British Association of Dermatologists
Table 1 Previous case reports of retinal detachment due to juvenile xanthogranuloma.
Patients
Site
1 2
Face, retina Iris, retinal and subretinal spaces Optic nerve and optic disc
3
Number of skin lesions
Age at presentation
Ethnicity
Treatment
Other associations
Multiple None
11 months 2 years
White Unknown
Initial improvement with systemic steroids Enucleation of the blind, painful eye
None None
None
20 months
Unknown
Enucleation and optic nerve resection for the blind eye with neovascular glaucoma
None
rarely involves the retina and posterior segment. Visual loss can occur from hyphema and secondary glaucoma as a result of involvement of the iris. Visual loss can also result from retinal and optic nerve involvement with or without retinal detachment. There have been three reported cases of unilateral retinal detachment due to pathologically confirmed JXG4–6 (Table 1). To our knowledge, this is the first reported case of bilateral retinal detachment with JXG.
Acknowledgement We thank Dr W. J. Merchant, Consultant Histopathologist, St James’ University Hospital, Leeds, UK, for his assistance with this case.
Figure 2 Touton giant cells and foamy histiocytes (haematoxylin
and eosin, original magnification 9 400).
In patients with cutaneous JXG, ocular complications have been reported in 0.4–10% of cases.1,2 Most cases of ocular JXG have occurred simultaneously with cutaneous lesions or within 2 years of their development. However, ocular JXG may occur without cutaneous involvement.3 Children under 2 years of age with multiple cutaneous JXGs are at greatest risk of ocular involvement, and therefore ophthalmology surveillance should be considered.3 Parents of children with cutaneous JXG should be advised to seek ophthalmology review if there is new eye pain, redness, squint or visual disturbance. It is unclear why JXG has a predilection for the eye. Ocular JXG can present with masquerading uveitis, heterochromia, hyphema and secondary glaucoma. It
ª 2015 British Association of Dermatologists
References 1 Liang S, Liu YH, Fang K. Juvenile xanthogranuloma with ocular involvement. Pediatr Dermatol 2009; 26: 232–4. 2 Karcioglu ZA, Mullaney PB. Diagnosis and management of iris juvenile xanthogranuloma. J Pediatr Ophthalmol Strabismus 1997; 34: 44–51. 3 Chang MW, Frieden IJ, Good W. The risk of intraocular juvenile xanthogranuloma: survey of current practices and assessment of risk. J Am Acad Dermatol 1996; 34: 445–9. 4 Hildebrand GD, Timms C, Thompson DA et al. Juvenile xanthogranuloma with presumed involvement of the optic disc and retina. Arch Ophthalmol 2004; 122: 1551–5. 5 Zamir E, Wang RC, Krishnakumar S et al. Juvenile xanthogranuloma masquerading as pediatric chronic uveitis: a clinicopathologic study. Surv Ophthalmol 2001; 46: 164–71. 6 Wertz FD, Zimmerman LE, McKeown CA et al. Juvenile xanthogranuloma of the optic nerve, disc, retina and choroid. Ophthalmology 1982; 89: 1331–5.
Clinical and Experimental Dermatology (2015) 40, pp706–707
707
D CP
A memorable patient
