Juvenile Xanthogranuloma of the Paravertebral Soft Tissue in Infancy: A Report of Two Cases

We report 2 cases of paravertebral soft tissue lesions with the histologic features of juvenile xanthogranuloma, both of which occurred in infants. Juvenile xanthogranuloma situated in the soft tissue is rare. We describe 2 cases with similar clinical and pathologic features; there has been no recurrence at 1 and 2 years after excision, respectively.     

Surgical outcomes of Epibulbar dermoids

PURPOSE: To evaluate results of lamellar keratoplasty in limbal dermoid. METHODS: The ocular records were reviewed of 155 consecutive eyes with solid epibulbar dermoids that underwent lamellar keratoplasty at Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences from 1977 to 1998. According to the size and location, the dermoids were managed surgically either by sectoral, annular, or central lamellar keratoplasty. RESULTS: All but 16 eyes improved cosmetically; while all the patients showed reduction in astigmatism, 116 eyes improved functionally. CONCLUSION: Excision with lamellar keratoplasty appears to be an effective means of management for extensive limbal dermoid. To avoid development of amblyopia, surgery at an early age is preferred.     

Corneal keloid mimicking a recurrent limbal dermoid

We report a 12-year-old boy who presented with the clinical appearance of a limbal dermoid recurrence. Histologic study of the lesion revealed it to be a corneal keloid. In the event of a recurrent mass following dermoid excision, keloid should be considered in the differential diagnosis.     

Spontaneous hyphaema in childhood

Between January 1987 and September 1989 three children presented to the childrens' casualty department with spontaneous hyphaema. Physical examination and haematological investigations were sufficient to determine their cause in two cases (sickle cell disease and acute lymphoblastic leukaemia). In the third child an ophthalmological examination under general anaesthesia revealed a granulomatous lesion of the iris consistent with the diagnosis of juvenile xanthogranuloma.     

Subconjunctival steroid in the management of uveal juvenile xanthogranuloma: a case report

Uveal juvenile xanthogranuloma (JXG) is a rare intraocular tumor which usually occurs in very young children. Most reported cases of successfully treated uveal juvenile xanthogranuloma have received systemic steroids, irradiation or excision. Some cases have responded to topical steroids alone. We report a case of JXG with recurrent hyphemas and elevated intraocular pressures despite the use of topical steroid. This patient responded to the addition of subconjunctival steroid injection. This is the first report to our knowledge demonstrating a response to periocular steroid supplementation for uveal JXG unresponsive to topical steroids.     

Intramuscular juvenile xanthogranuloma: sonographic and MR findings

BACKGROUND: Juvenile xanthogranuloma is a rare benign lesion, most often cutaneous or subcutaneous, and found in infants. OBJECTIVE: To review the imaging approach to an intramuscular mass in an infant. METHODS: A case is reported of a 2-month-old boy who presented with a solitary left arm mass which was evaluated with ultrasound and MRI and then biopsied. RESULTS: Imaging demonstrated a well-defined homogeneous solid mass located in the triceps muscle. The mass was resected and pathology revealed intramuscular juvenile xanthogranuloma. CONCLUSION: Intramuscular juvenile xanthogranuloma, although extremely rare, has imaging features similar to those of more common malignant tumors of infancy. The imaging findings are nonspecific, but this diagnosis should be considered in the differential of a solid intramuscular mass in an infant.     

Systemic Form of Juvenile Xanthogranuloma: Report of a Case with Liver and Bone Marrow Involvement

Systemic form of juvenile xanthogranuloma with involvement of liver and bone marrow is reported in a 2-month-old female infant who presented with hepatosplenomegaly, severe anemia, and thrombocytopenia. There was no skin lesion, nor bone lesion. The enlarged liver has generalized yellowish spots. The diagnosis of juvenile xanthogranuloma was made by pathologic findings of marrow and portal tract infiltration by S-100 negative, CD1a negative, CD68 positive, and Factor XIIIa positive large pale to foamy histiocytes with Touton giant cells, and lack of Langerhans cell granule by electron microscopic examination. The patient was treated with Vinblastine and Etoposide, and experienced slow and gradual disease regression in one year. To the best of knowledge, this is the first documented case of bone marrow involvement in systemic juvenile xanthogranuloma. published online December 6, 2004     

Successful bone marrow transplantation for life threatening xanthogranuloma disseminatum in neurofibromatosis type-1

A 2-yr and 9-month-old female patient with neurofibromatosis type-1 presented with hepatomegaly, anemia, thrombocytopenia, and croupy cough and diagnosed with xanthogranuloma disseminatum (XD). She failed chemotherapy consisting of steroids, 6-mercaptopurine and methotrexate. A partial response to HLH-94 therapy that included etoposide and cyclosporine A was initially observed. However, she continued to have significant organ dysfunction without further improvement at 6 months of therapy. She then received matched unrelated donor bone marrow transplantation (BMT) following carmustine, etoposide, cytarabine and melphelan conditioning with complete resolution of symptoms. BMT is an option in therapy-resistant, life threatening XD cases.     

Two Children with Xanthogranuloma of the Sellar Region

We report the cases of two Japanese children with cystic pituitary enlargement on magnetic resonance imaging (MRI) causing central diabetes insipidus (DI). In the first patient, endocrinological examination demonstrated slightly impaired growth hormone and thyroid stimulating hormone secretions, but normal responses of other anterior pituitary hormones. The second patient had normal basal levels of anterior pituitary hormones. Transsphenoidal resection of the tumors was performed in both patients. Histological analysis of the tumor sections demonstrated granulomatous tissue with cholesterol clefts, foamy macrophages, multinucleated giant cells and no epithelial component. Thus, these tumors were pathologically diagnosed as xanthogranuloma of the sellar region, different from adamantinomatous craniopharyngioma. Post-operatively, the two patients continue to have DI, however other hormone replacement therapy after one year of follow-up has not been required. Currently, it is not clear whether xanthogranuloma is a distinct entity from adamantinomatous craniopharyingioma. Although, to our knowledge, a clinical report of xanthogranuloma of the sellar region has not been reported at pediatric age, it would be included in the differential diagnosis of the sellar region.     

儿童气管幼年性黄色肉芽肿1例报告并文献复习

目的 探讨儿童气管幼年性黄色肉芽肿的临床特征和治疗方法.方法 回顾分析1例气管幼年黄色肉芽肿患儿的临床资料并复习相关文献.结果 患儿,女,1岁10个月,以反复喘息为主要表现,常规抗感染、全身糖皮质激素及支气管舒张剂治疗效果不佳.电子支气管镜提示患儿声门下气管侧壁可见1个直径约0.8 cm的淡黄色肿物,表面光滑,阻塞气管...     

Chorioretinal involvement and vitreous hemorrhage in a patient with juvenile xanthogranuloma

We describe an unusual presentation of juvenile xanthogranuloma in a 4-year-old girl. Juvenile xanthogranuloma may be associated with posterior manifestations including optic nerve and choroidal granulomas, panuveitis, and vitreous hemorrhage in the absence of the classic anterior segment manifestations.     

Nodular fasciitis presenting as a rapidly enlarging episcleral mass in a 3-year-old

A rapidly enlarging periocular mass in a child obligates the treating physician to rule out a malignancy, especially a rhabdomyosarcoma. A 3-year-old girl presented with a 5-day history of a rapidly growing episcleral mass superonasal to the globe, adjacent to the superior rectus muscle insertion. The lesion was locally excised. A sarcoma could not be excluded on frozen sections. Permanent sections and electron microscopy revealed nodular fasciitis, a benign lesion with a pseudosarcomatous histologic appearance. No recurrence has been noted at 9 months follow-up. Nodular fasciitis is a benign proliferation which should be considered in the differential diagnosis of a rapidly enlarging subconjunctival or orbital mass in a child.     

Isolated juvenile xanthogranuloma of clitoral connective tissue

Juvenile xanthogranuloma is a frequent childhood tumor and the only common non-Langerhans' cell histiocytosis. We present an unusual case of juvenile xanthogranuloma (JXG) of clitoral connective tissue in a 6-week-old girl.     

Isolated juvenile xanthogranuloma in the bone marrow: report of a case and review of the literature.

We report a case of juvenile xanthogranuloma limited to involvement of the bone marrow in a 6-week-old male infant. Evaluation of the bone marrow was a part of the workup for peripheral blood cytopenia. Examination showed hypercellular marrow with paratrabecular clusters of lipidized histiocytes positive for CD68, CD4, and factor XIII(a) and negative for S100 and CD1a. Clinical and radiological workup showed no associated skin lesions or osseous or visceral involvement. The patient was started on chemotherapy with clinical improvement and gradual decreased bone marrow involvement. The child is alive and well at 16 months of age. This case represents, to the best of our knowledge, the 1st documented case of juvenile xanthogranuloma with isolated bone marrow involvement sparing skin and viscera.     

Treatment of juvenile xanthogranuloma

Juvenile xanthogranuloma (JXG) is generally a benign, self-limited histiocytic disorder of the skin. We report two cases of multisystem JXG presenting with clinical features more commonly seen in Langerhans cell histiocytosis (LCH), including diabetes insipidus and lytic bony lesions. Histologically, the skin lesions demonstrated a histiocytic dermal infiltrate that stained for CD-68, but S-100 and CD1a stains were negative. Treatment according to LCH-based chemotherapy regimens resulted in prompt resolution of symptoms. A literature review of multisystem JXG cases treated with chemotherapy suggests that symptomatic patients can successfully be treated with LCH-based regimens that include both corticosteroids and vinca alkaloids.     

Juvenile xanthogranuloma: three cases

Juvenile xanthogranuloma (JX) is a regressing fibrous histiocytoma occurring during infancy and characterized by cutaneous papules and nodules and less often by additional lesions in deep tissue and organs. It has a special place among childhood masses by presenting different outcomes and spontaneous regression. We report three cases of JX that were detected after birth and resected.     

Anomalous Insertion of the Superior or the Inferior Vena Cava into the Right Atrium

Three cases with anomalous insertion of the superior or inferior vena cava into the right atrium are presented. One case was a 25-year-old healthy man with anomalous low insertion of the right superior vena cava into the right atrium. The remaining two cases were infants with complex cardiac anomalies showing anomalous high insertion of the inferior vena cava into the right atrium. The congenital anomalies of the connection between the superior and the inferior vena cava and the right atrium are rare. Angiographic and computed tomographic findings of these anomalies were reported.     

Oral acitretin treatment in severe congenital ichthyosis of the neonate

Two newborn infants with ichthyosis, one with lamellar ichthyosis and one with nonbullous ichthyosis form erythroderma, who presented at birth with a collodion baby appearance, were treated with acitretin (1 mg/kg/day). Clinical improvement was achieved shortly after treatment. The second case received oral retinoid for 3.5 months and was followed for nine months. The result was excellent. The treatment resulted in a satisfactory improvement in the skin condition of the first case. The tolerance to the drug was good. Side effects were not observed. It was concluded that early management of severe ichthyosis cases could prevent life-threatening events such as hyperthermia, disturbance in electrolyte and fluid balance, and infection.     

Congenital infantile fibrosarcoma of the colon: a case series and literature review

Congenital infantile fibrosarcoma is rare and only three cases affecting the colon have previously been reported. We describe two further cases that presented in the neonatal period and were both successfully treated with surgical excision and have no evidence of recurrence or metastasis at 31 and 27 months follow-up, respectively.     

Solitary,extracutaneous, skull‐based juvenile xanthogranuloma

We report a case of an 18‐month‐old female who presented an occipital bone lesion with progressive growth. Imaging studies showed a left extradural, skull‐based tumor partially occupying the posterior fossa. Histopathological and immunohistochemical studies confirmed a juvenile xanthogranuloma (JXG). Partial surgical resection, chemotherapy, and conformational radiotherapy were used. Exclusive extracutaneous JXG with an intracranial, vertebral, or skull‐based localization is extremely rare. Pediatr Blood Cancer. 2010;55:380–382. © 2010 Wiley–Liss, Inc.