Ocular manifestations of IgG4-related disease in children. More common than anticipated? Review of the literature and case report

Abstract

IgG4-related disease (IgG4-RD) is an entity with various clinical manifestations. Histopathologically, it is characterized by lymphoplasmacytic infiltrates enriched in IgG4 (+) plasmacytes and usually fibrosis of the affected tissue. Most of the patients have also increased IgG4 serum levels and they respond to glucocorticosteroids. In children, due to its rare occurrence, IgG4-RD is ill defined. From the published studies, so far, it appears that ocular manifestations are very common in the paediatric population with IgG4-RD. Herein, we describe a new case of a child with IgG4-RD with ocular involvement manifested with orbit and eyelid swelling, successfully treated with steroids. In addition, we review the clinical, laboratory, histopathologic and radiologic characteristics of the published paediatric cases with IgG4-RD and ocular involvement, critically comparing them with the characteristics of the adult population. It seems that ocular manifestations are more frequently observed in children than in adults. Also, the pattern of involvement is different, with extraocular muscles and soft tissues being more commonly affected than the lacrimal glands.

Orbital Rosai-Dorfman disease initially diagnosed as IgG4-related disease: a case report

“…The first systematic review of head and neck IgG4-RD found that the orbit was the most frequently affected site [ 15 , 16 ]. Interestingly, an additional systematic review of pediatric IgG4-RD found that primary orbital disease was the most common manifestation in children [ 17 , 18 ]. Orbital IgG4-RD in adults usually involves the lacrimal gland; however, in children, the surrounding orbital soft tissues, musculature, and trigeminal nerve branches are more typically involved (as seen in our patient) [ 15 , 18 ].…”

“…Interestingly, an additional systematic review of pediatric IgG4-RD found that primary orbital disease was the most common manifestation in children [ 17 , 18 ]. Orbital IgG4-RD in adults usually involves the lacrimal gland; however, in children, the surrounding orbital soft tissues, musculature, and trigeminal nerve branches are more typically involved (as seen in our patient) [ 15 , 18 ]. First-line IgG4-RD treatment is typically 2–4 weeks of steroids (usually prednisone) followed by a gradual taper [ 19 ].…”

Invasive carcinoma of no special type with focal sebaceous differentiation in breast

“…1 Breast carcinoma with sebaceous differentiation is also very rare with only 9 cases reported in the literature to our knowledge. 2,3 Sebaceous differentiation has been reported in association with invasive ductal carcinoma, adenoid cystic carcinoma and metaplastic carcinoma. 2 Hormone receptors and lymph node status vary between cases but none of the cases reported positive HER2 status.…”

“…2,3 Sebaceous differentiation has been reported in association with invasive ductal carcinoma, adenoid cystic carcinoma and metaplastic carcinoma. 2 Hormone receptors and lymph node status vary between cases but none of the cases reported positive HER2 status. Here, we report a case of invasive carcinoma of no special type with focal sebaceous differentiation which is ER positive, PR positive, HER2 negative with two involved sentinel lymph nodes.…”

“…1,2 EBV-positive DLBCL has been reported in <5% of Western patients with no documented predisposing immunodeficiency. 2 There are many lymphoproliferative disorders associated with EBV infection such as lymphomatoid granulomatosis, plasmablastic lymphoma, DLBCL associated with chronic inflammation, EBV positive mucocutaneous ulcer, primary effusion lymphoma, and classical Hodgkin lymphoma. 1 EBV-positive DLBCL, NOS is a diagnosis of exclusion and clinicopathological correlation is required to differentiate between these differential diagnoses.…”