Patient Presentation
A 65-year-old healthy Caucasian woman presented with a slow-growing nodule on the left side of her forehead. She was asymptomatic with no personal or family history of similar lesions or any skin lesions in general. On physical examination, there was a 1-cm yellow, smooth, dome-shaped nodule with overlying telangiectasias, scattered fine scales, but no central crateriform depression or keratin plug. There was no involvement of the eyes, and the review of her systems was unremarkable. A biopsy of the nodule was performed and showed lipidized histiocytes and giant cells made of a wreath of nuclei with a peripheral rim of vacuolated cytoplasm.
What is Your Diagnosis?
Diagnosis: Juvenile Xanthogranuloma (JXG)
History of JXG
Adamson first reported juvenile xanthoma in 1905, referring to it as congenital xanthoma multiplex.1 McDonaugh reported a second case in 19092 and then five more in 1912.3 In these reports, he noted that the multiple cutaneous and subcutaneous lesions resembled a “soft fibroma or connective-tissue tumor” and recognized that they resolved spontaneously. He also concluded that the cells were of endothelial origin and referred to them as nevoxanthoendothelioma. In 1936, Senear and Caro recognized the xanthomatous nature of the lesion and suggested the term juvenile xanthoma.4 It was not until 1954, when Helwig and Hackney demonstrated that the lesions did not have an endothelial component, that the descriptive term juvenile xanthogranuloma was proposed.5
JXG: Not Always “Juvenile”
Juvenile xanthogranuloma (JXG) is an uncommon cutaneous disorder that may, in rare instances, present with extracutaneous manifestations. Its incidence and prevalence are unknown.6 Five percent6 to 30%7 of JXG are present at birth and 45%8 to 70%6 occur by 1 year of age. Although uncommon, onset in adulthood is reported with a peak onset between 20 to 30 years of age. Cases involving older patients, like the case presented here, are also possible. The male to female ratio is 1.5:1 and JXG appears less frequently in African-American populations.6
Common Presentation
JXG typically presents with an abrupt onset of single or multiple well-circumscribed, firm, rubbery, round-to-oval papules or nodules varying in size from 0.2 to 2.0 cm in diameter on the head, neck or upper trunk. The papules or nodules start out pink with yellow tinge and later change to yellow-brown.6-8
Clinically, two forms have been defined.
Small nodular form. This form is characterized by many firm, round papules that are between 0.2 cm and 0.5 cm in diameter, scattered throughout the upper part of the body.
Large nodular form. This form is distinguished by fewer lesions that are between 1.0 and 2.0 cm. They are translucent and may show telangiectasias on their surface.7
Although there have been cases in which both small and large nodular forms existed simultaneously,9 usually only one form is present.6 Both forms typically flatten with time and spontaneously regress within 3 to 6 years.7
Histologically, JXG presents with a dense, sheetlike, nonencapsulated, well-demarcated, histiocytic infiltrate limited to the papillary and reticular dermis. Occasionally, infiltrating cells spread to the subcutaneous tissue, fascia and peripheral muscle, but JXG does not spread into the epidermis or adjacent skin structures.6-8 Infiltrating cells include histiocytes, giant cells, Touton cells, lymphocytes, eosinophils and neutrophils.6 The characteristic infiltrating cell of JXG is the Touton cell, which appears as a “wreath” of nuclei surrounded by foamy cytoplasm.6 Proliferating histiocytes are characteristically negative for S-100 protein, Mac-387, and CD-1, and positive for HAM56, HHF35, KP1, KiM1P, Vimentin, CD-4, and CD68.6,10,11
Atypical Presentation
Unusual clinical forms of JXG exist in which the shape, size and location can widely vary.6,9 Patients with hyper-keratotic and pedunculated nodules have been described. There are also rare presentations of a giant or macronodular form of JXG in which the tumors are larger than 2.0 cm.6,9 Although JXG is usually found on the head, neck and upper trunk, no anatomic region is spared, with JXG occurring in other areas such as the genitalia, perineum,8 eyelids, lips, palms, soles, great toe, and fingers.6
JXG can present with lesions outside of the dermis as well. It has been suggested that up to 5% of JXG cases occur in the deep soft tissue.12 These lesions have a preference for the head and neck and are typically well-circumscribed subcutaneous masses less than 3.0 cm in diameter.8,13 JXG may also have ocular manifestations in up to 0.4% of patients,15 typically affecting the iris.15
Left untreated, this condition can lead to spontaneous hyphema, glaucoma or blindness.15 Other affected areas include oral mucosa, paranasal sinuses,8 lung, liver, pericardium, myocardium, spleen, retroperitoneum, kidney, central nervous system, gonads, adrenal gland, bones and larynx.6,16 Symptoms from these systemic presentations are related to either mass effect or histiocytic infiltration and may include seizures, dyspnea, peripheral nerve palsy, hypoalbuminemia, ascites, anemia and thrombocytopenia.6,16
JXG also has a rare association with other cutaneous and hematologic disorders. Patients have been reported with concomitant JXG and café-au-lait spots as well as JXG and neurofibromatosis type 1 (NF1).6 Furthermore, when JXG and NF1 are coexistent, a 20- to 32-fold increased risk for the development of juvenile chronic myelogenous leukemia has been reported.17 There have also been very rare associations with neurofibromatosis type 2.18
Differential Diagnosis
The differential diagnosis of JXG is extensive, including self-healing reticulo-histiocytosis, generalized eruptive histiocytoma, papular xanthoma, xanthoma disseminatum, tuberous xanthoma, solitary mastocytoma, keratoacanthoma, spitz nevi and highly lipidized dermatofibromas.6 It is also important to distinguish JXG from other dendritic cell-related disorders such as Langerhans cell histiocytosis19 and benign cephalic histiocytosis.11
JXG and Langerhans cell histiocytosis (LCH) are currently categorized together as dendritic cell-related histiocytic disorders based on their cell of origin.19 LCH has a broad range of presentations, which includes a yellow cutaneous nodule that may mimic JXG. LCH is defined histologically with Birbeck granules and CD1a and S-100 surface antigen positivity.19 JXG can be distinguished from LCH by its absence of Birbeck granules and its lack of surface antigen positivity for CD1a and S-100. It is important to distinguish between these two lesions, as JXG is a benign lesion that will regress on its own, whereas LCH can lead to extensive disease with organ dysfunction.19
Benign cephalic histiocytosis (BCH) is another dendritic cell-related disorder that has overlapping clinical and histological characteristics with JXG. The BCH eruption is similar to the micronodular form of JXG, beginning between 6 and 12 months of age, with small, erythematous, yellow, papulonodular lesions on the upper part of the face. In BCH, however, the lesions are flatter and are entirely limited to the head and neck.6,7 Histologically and immunophenotypically, BCH and JXG are very similar, showing a histiocytic infiltrate below the epidermis that is both Factor XIIIa and HAM56 positive as well as CD1a and S-100 negative.20 In JXG, however, the infiltrate contains Touton giant cells, which are absent in BCH.7
Managing this Condition
When solitary cutaneous lesions are present, the diagnosis of JXG is easily made and does not normally require histologic confirmation. When multiple lesions are present, however, biopsies may be required to exclude other disorders. Once the diagnosis is made, no treatment is required for simple cutaneous tumors due to their self-regressive nature. Some patients may have the tumors excised for cosmetic reasons.6
Complications from JXG are related to rare extracutaneous manifestations. A complete review of systems and physical examination is recommended to detect any systemic involvement.6 Other diagnostic tests are not warranted at the original cutaneous presentation; however, the development of suspicious clinical findings may necessitate further imaging or laboratory investigation.16 Systemic manifestations are self-limited and only require treatment when symptomatic. For patients with isolated and accessible lesions, surgical excision is curative. Although in patients with deep intracranial or diffuse visceral or unresectable tumors, systemic drug or radiation therapies have been attempted. The efficacies of these treatments are difficult to assess due to the involutional nature of JXG.16 Since most patients with JXG are young and particularly susceptible to the toxic effects of these treatments, an emphasis on supportive care is recommended, reserving chemotherapy, radiation, and high-dose corticosteroids for tumors that are life threatening or progressive.16
For intraocular JXG, the risk of spontaneous hyphema, glaucoma, or blindness requires early detection and treatment. In about half of patients, cutaneous lesions appear before those in the eye and can lead to early detection of ocular lesions. Although the low incidence of ocular lesions15 does not warrant screening all patients with cutaneous lesions, certain risk factors make ocular involvement more likely. Screening should target patients with a new diagnosis of multiple skin lesions at an age of 2 years or younger.15 The treatment protocol for intraocular involvement includes topical, intralesional, and systemic steroids, followed by low-dose, noncataractogenic radiotherapy or surgery if initial treatment fails.6 Course and Prognosis JXG has a self-remitting course with spontaneous resolution in 3 to 6 years regardless of location or morphologic form.6 Recurrences after excision, even when the margins are positive, are extremely rare,8 and the overall prognosis is very good.
Patient Presentation
A 65-year-old healthy Caucasian woman presented with a slow-growing nodule on the left side of her forehead. She was asymptomatic with no personal or family history of similar lesions or any skin lesions in general. On physical examination, there was a 1-cm yellow, smooth, dome-shaped nodule with overlying telangiectasias, scattered fine scales, but no central crateriform depression or keratin plug. There was no involvement of the eyes, and the review of her systems was unremarkable. A biopsy of the nodule was performed and showed lipidized histiocytes and giant cells made of a wreath of nuclei with a peripheral rim of vacuolated cytoplasm.
What is Your Diagnosis?
Diagnosis: Juvenile Xanthogranuloma (JXG)
History of JXG
Adamson first reported juvenile xanthoma in 1905, referring to it as congenital xanthoma multiplex.1 McDonaugh reported a second case in 19092 and then five more in 1912.3 In these reports, he noted that the multiple cutaneous and subcutaneous lesions resembled a “soft fibroma or connective-tissue tumor” and recognized that they resolved spontaneously. He also concluded that the cells were of endothelial origin and referred to them as nevoxanthoendothelioma. In 1936, Senear and Caro recognized the xanthomatous nature of the lesion and suggested the term juvenile xanthoma.4 It was not until 1954, when Helwig and Hackney demonstrated that the lesions did not have an endothelial component, that the descriptive term juvenile xanthogranuloma was proposed.5
JXG: Not Always “Juvenile”
Juvenile xanthogranuloma (JXG) is an uncommon cutaneous disorder that may, in rare instances, present with extracutaneous manifestations. Its incidence and prevalence are unknown.6 Five percent6 to 30%7 of JXG are present at birth and 45%8 to 70%6 occur by 1 year of age. Although uncommon, onset in adulthood is reported with a peak onset between 20 to 30 years of age. Cases involving older patients, like the case presented here, are also possible. The male to female ratio is 1.5:1 and JXG appears less frequently in African-American populations.6
Common Presentation
JXG typically presents with an abrupt onset of single or multiple well-circumscribed, firm, rubbery, round-to-oval papules or nodules varying in size from 0.2 to 2.0 cm in diameter on the head, neck or upper trunk. The papules or nodules start out pink with yellow tinge and later change to yellow-brown.6-8
Clinically, two forms have been defined.
Small nodular form. This form is characterized by many firm, round papules that are between 0.2 cm and 0.5 cm in diameter, scattered throughout the upper part of the body.
Large nodular form. This form is distinguished by fewer lesions that are between 1.0 and 2.0 cm. They are translucent and may show telangiectasias on their surface.7
Although there have been cases in which both small and large nodular forms existed simultaneously,9 usually only one form is present.6 Both forms typically flatten with time and spontaneously regress within 3 to 6 years.7
Histologically, JXG presents with a dense, sheetlike, nonencapsulated, well-demarcated, histiocytic infiltrate limited to the papillary and reticular dermis. Occasionally, infiltrating cells spread to the subcutaneous tissue, fascia and peripheral muscle, but JXG does not spread into the epidermis or adjacent skin structures.6-8 Infiltrating cells include histiocytes, giant cells, Touton cells, lymphocytes, eosinophils and neutrophils.6 The characteristic infiltrating cell of JXG is the Touton cell, which appears as a “wreath” of nuclei surrounded by foamy cytoplasm.6 Proliferating histiocytes are characteristically negative for S-100 protein, Mac-387, and CD-1, and positive for HAM56, HHF35, KP1, KiM1P, Vimentin, CD-4, and CD68.6,10,11
Atypical Presentation
Unusual clinical forms of JXG exist in which the shape, size and location can widely vary.6,9 Patients with hyper-keratotic and pedunculated nodules have been described. There are also rare presentations of a giant or macronodular form of JXG in which the tumors are larger than 2.0 cm.6,9 Although JXG is usually found on the head, neck and upper trunk, no anatomic region is spared, with JXG occurring in other areas such as the genitalia, perineum,8 eyelids, lips, palms, soles, great toe, and fingers.6
JXG can present with lesions outside of the dermis as well. It has been suggested that up to 5% of JXG cases occur in the deep soft tissue.12 These lesions have a preference for the head and neck and are typically well-circumscribed subcutaneous masses less than 3.0 cm in diameter.8,13 JXG may also have ocular manifestations in up to 0.4% of patients,15 typically affecting the iris.15
Left untreated, this condition can lead to spontaneous hyphema, glaucoma or blindness.15 Other affected areas include oral mucosa, paranasal sinuses,8 lung, liver, pericardium, myocardium, spleen, retroperitoneum, kidney, central nervous system, gonads, adrenal gland, bones and larynx.6,16 Symptoms from these systemic presentations are related to either mass effect or histiocytic infiltration and may include seizures, dyspnea, peripheral nerve palsy, hypoalbuminemia, ascites, anemia and thrombocytopenia.6,16
JXG also has a rare association with other cutaneous and hematologic disorders. Patients have been reported with concomitant JXG and café-au-lait spots as well as JXG and neurofibromatosis type 1 (NF1).6 Furthermore, when JXG and NF1 are coexistent, a 20- to 32-fold increased risk for the development of juvenile chronic myelogenous leukemia has been reported.17 There have also been very rare associations with neurofibromatosis type 2.18
Differential Diagnosis
The differential diagnosis of JXG is extensive, including self-healing reticulo-histiocytosis, generalized eruptive histiocytoma, papular xanthoma, xanthoma disseminatum, tuberous xanthoma, solitary mastocytoma, keratoacanthoma, spitz nevi and highly lipidized dermatofibromas.6 It is also important to distinguish JXG from other dendritic cell-related disorders such as Langerhans cell histiocytosis19 and benign cephalic histiocytosis.11
JXG and Langerhans cell histiocytosis (LCH) are currently categorized together as dendritic cell-related histiocytic disorders based on their cell of origin.19 LCH has a broad range of presentations, which includes a yellow cutaneous nodule that may mimic JXG. LCH is defined histologically with Birbeck granules and CD1a and S-100 surface antigen positivity.19 JXG can be distinguished from LCH by its absence of Birbeck granules and its lack of surface antigen positivity for CD1a and S-100. It is important to distinguish between these two lesions, as JXG is a benign lesion that will regress on its own, whereas LCH can lead to extensive disease with organ dysfunction.19
Benign cephalic histiocytosis (BCH) is another dendritic cell-related disorder that has overlapping clinical and histological characteristics with JXG. The BCH eruption is similar to the micronodular form of JXG, beginning between 6 and 12 months of age, with small, erythematous, yellow, papulonodular lesions on the upper part of the face. In BCH, however, the lesions are flatter and are entirely limited to the head and neck.6,7 Histologically and immunophenotypically, BCH and JXG are very similar, showing a histiocytic infiltrate below the epidermis that is both Factor XIIIa and HAM56 positive as well as CD1a and S-100 negative.20 In JXG, however, the infiltrate contains Touton giant cells, which are absent in BCH.7
Managing this Condition
When solitary cutaneous lesions are present, the diagnosis of JXG is easily made and does not normally require histologic confirmation. When multiple lesions are present, however, biopsies may be required to exclude other disorders. Once the diagnosis is made, no treatment is required for simple cutaneous tumors due to their self-regressive nature. Some patients may have the tumors excised for cosmetic reasons.6
Complications from JXG are related to rare extracutaneous manifestations. A complete review of systems and physical examination is recommended to detect any systemic involvement.6 Other diagnostic tests are not warranted at the original cutaneous presentation; however, the development of suspicious clinical findings may necessitate further imaging or laboratory investigation.16 Systemic manifestations are self-limited and only require treatment when symptomatic. For patients with isolated and accessible lesions, surgical excision is curative. Although in patients with deep intracranial or diffuse visceral or unresectable tumors, systemic drug or radiation therapies have been attempted. The efficacies of these treatments are difficult to assess due to the involutional nature of JXG.16 Since most patients with JXG are young and particularly susceptible to the toxic effects of these treatments, an emphasis on supportive care is recommended, reserving chemotherapy, radiation, and high-dose corticosteroids for tumors that are life threatening or progressive.16
For intraocular JXG, the risk of spontaneous hyphema, glaucoma, or blindness requires early detection and treatment. In about half of patients, cutaneous lesions appear before those in the eye and can lead to early detection of ocular lesions. Although the low incidence of ocular lesions15 does not warrant screening all patients with cutaneous lesions, certain risk factors make ocular involvement more likely. Screening should target patients with a new diagnosis of multiple skin lesions at an age of 2 years or younger.15 The treatment protocol for intraocular involvement includes topical, intralesional, and systemic steroids, followed by low-dose, noncataractogenic radiotherapy or surgery if initial treatment fails.6 Course and Prognosis JXG has a self-remitting course with spontaneous resolution in 3 to 6 years regardless of location or morphologic form.6 Recurrences after excision, even when the margins are positive, are extremely rare,8 and the overall prognosis is very good.
Patient Presentation
A 65-year-old healthy Caucasian woman presented with a slow-growing nodule on the left side of her forehead. She was asymptomatic with no personal or family history of similar lesions or any skin lesions in general. On physical examination, there was a 1-cm yellow, smooth, dome-shaped nodule with overlying telangiectasias, scattered fine scales, but no central crateriform depression or keratin plug. There was no involvement of the eyes, and the review of her systems was unremarkable. A biopsy of the nodule was performed and showed lipidized histiocytes and giant cells made of a wreath of nuclei with a peripheral rim of vacuolated cytoplasm.
What is Your Diagnosis?
Diagnosis: Juvenile Xanthogranuloma (JXG)
History of JXG
Adamson first reported juvenile xanthoma in 1905, referring to it as congenital xanthoma multiplex.1 McDonaugh reported a second case in 19092 and then five more in 1912.3 In these reports, he noted that the multiple cutaneous and subcutaneous lesions resembled a “soft fibroma or connective-tissue tumor” and recognized that they resolved spontaneously. He also concluded that the cells were of endothelial origin and referred to them as nevoxanthoendothelioma. In 1936, Senear and Caro recognized the xanthomatous nature of the lesion and suggested the term juvenile xanthoma.4 It was not until 1954, when Helwig and Hackney demonstrated that the lesions did not have an endothelial component, that the descriptive term juvenile xanthogranuloma was proposed.5
JXG: Not Always “Juvenile”
Juvenile xanthogranuloma (JXG) is an uncommon cutaneous disorder that may, in rare instances, present with extracutaneous manifestations. Its incidence and prevalence are unknown.6 Five percent6 to 30%7 of JXG are present at birth and 45%8 to 70%6 occur by 1 year of age. Although uncommon, onset in adulthood is reported with a peak onset between 20 to 30 years of age. Cases involving older patients, like the case presented here, are also possible. The male to female ratio is 1.5:1 and JXG appears less frequently in African-American populations.6
Common Presentation
JXG typically presents with an abrupt onset of single or multiple well-circumscribed, firm, rubbery, round-to-oval papules or nodules varying in size from 0.2 to 2.0 cm in diameter on the head, neck or upper trunk. The papules or nodules start out pink with yellow tinge and later change to yellow-brown.6-8
Clinically, two forms have been defined.
Small nodular form. This form is characterized by many firm, round papules that are between 0.2 cm and 0.5 cm in diameter, scattered throughout the upper part of the body.
Large nodular form. This form is distinguished by fewer lesions that are between 1.0 and 2.0 cm. They are translucent and may show telangiectasias on their surface.7
Although there have been cases in which both small and large nodular forms existed simultaneously,9 usually only one form is present.6 Both forms typically flatten with time and spontaneously regress within 3 to 6 years.7
Histologically, JXG presents with a dense, sheetlike, nonencapsulated, well-demarcated, histiocytic infiltrate limited to the papillary and reticular dermis. Occasionally, infiltrating cells spread to the subcutaneous tissue, fascia and peripheral muscle, but JXG does not spread into the epidermis or adjacent skin structures.6-8 Infiltrating cells include histiocytes, giant cells, Touton cells, lymphocytes, eosinophils and neutrophils.6 The characteristic infiltrating cell of JXG is the Touton cell, which appears as a “wreath” of nuclei surrounded by foamy cytoplasm.6 Proliferating histiocytes are characteristically negative for S-100 protein, Mac-387, and CD-1, and positive for HAM56, HHF35, KP1, KiM1P, Vimentin, CD-4, and CD68.6,10,11
Atypical Presentation
Unusual clinical forms of JXG exist in which the shape, size and location can widely vary.6,9 Patients with hyper-keratotic and pedunculated nodules have been described. There are also rare presentations of a giant or macronodular form of JXG in which the tumors are larger than 2.0 cm.6,9 Although JXG is usually found on the head, neck and upper trunk, no anatomic region is spared, with JXG occurring in other areas such as the genitalia, perineum,8 eyelids, lips, palms, soles, great toe, and fingers.6
JXG can present with lesions outside of the dermis as well. It has been suggested that up to 5% of JXG cases occur in the deep soft tissue.12 These lesions have a preference for the head and neck and are typically well-circumscribed subcutaneous masses less than 3.0 cm in diameter.8,13 JXG may also have ocular manifestations in up to 0.4% of patients,15 typically affecting the iris.15
Left untreated, this condition can lead to spontaneous hyphema, glaucoma or blindness.15 Other affected areas include oral mucosa, paranasal sinuses,8 lung, liver, pericardium, myocardium, spleen, retroperitoneum, kidney, central nervous system, gonads, adrenal gland, bones and larynx.6,16 Symptoms from these systemic presentations are related to either mass effect or histiocytic infiltration and may include seizures, dyspnea, peripheral nerve palsy, hypoalbuminemia, ascites, anemia and thrombocytopenia.6,16
JXG also has a rare association with other cutaneous and hematologic disorders. Patients have been reported with concomitant JXG and café-au-lait spots as well as JXG and neurofibromatosis type 1 (NF1).6 Furthermore, when JXG and NF1 are coexistent, a 20- to 32-fold increased risk for the development of juvenile chronic myelogenous leukemia has been reported.17 There have also been very rare associations with neurofibromatosis type 2.18
Differential Diagnosis
The differential diagnosis of JXG is extensive, including self-healing reticulo-histiocytosis, generalized eruptive histiocytoma, papular xanthoma, xanthoma disseminatum, tuberous xanthoma, solitary mastocytoma, keratoacanthoma, spitz nevi and highly lipidized dermatofibromas.6 It is also important to distinguish JXG from other dendritic cell-related disorders such as Langerhans cell histiocytosis19 and benign cephalic histiocytosis.11
JXG and Langerhans cell histiocytosis (LCH) are currently categorized together as dendritic cell-related histiocytic disorders based on their cell of origin.19 LCH has a broad range of presentations, which includes a yellow cutaneous nodule that may mimic JXG. LCH is defined histologically with Birbeck granules and CD1a and S-100 surface antigen positivity.19 JXG can be distinguished from LCH by its absence of Birbeck granules and its lack of surface antigen positivity for CD1a and S-100. It is important to distinguish between these two lesions, as JXG is a benign lesion that will regress on its own, whereas LCH can lead to extensive disease with organ dysfunction.19
Benign cephalic histiocytosis (BCH) is another dendritic cell-related disorder that has overlapping clinical and histological characteristics with JXG. The BCH eruption is similar to the micronodular form of JXG, beginning between 6 and 12 months of age, with small, erythematous, yellow, papulonodular lesions on the upper part of the face. In BCH, however, the lesions are flatter and are entirely limited to the head and neck.6,7 Histologically and immunophenotypically, BCH and JXG are very similar, showing a histiocytic infiltrate below the epidermis that is both Factor XIIIa and HAM56 positive as well as CD1a and S-100 negative.20 In JXG, however, the infiltrate contains Touton giant cells, which are absent in BCH.7
Managing this Condition
When solitary cutaneous lesions are present, the diagnosis of JXG is easily made and does not normally require histologic confirmation. When multiple lesions are present, however, biopsies may be required to exclude other disorders. Once the diagnosis is made, no treatment is required for simple cutaneous tumors due to their self-regressive nature. Some patients may have the tumors excised for cosmetic reasons.6
Complications from JXG are related to rare extracutaneous manifestations. A complete review of systems and physical examination is recommended to detect any systemic involvement.6 Other diagnostic tests are not warranted at the original cutaneous presentation; however, the development of suspicious clinical findings may necessitate further imaging or laboratory investigation.16 Systemic manifestations are self-limited and only require treatment when symptomatic. For patients with isolated and accessible lesions, surgical excision is curative. Although in patients with deep intracranial or diffuse visceral or unresectable tumors, systemic drug or radiation therapies have been attempted. The efficacies of these treatments are difficult to assess due to the involutional nature of JXG.16 Since most patients with JXG are young and particularly susceptible to the toxic effects of these treatments, an emphasis on supportive care is recommended, reserving chemotherapy, radiation, and high-dose corticosteroids for tumors that are life threatening or progressive.16
For intraocular JXG, the risk of spontaneous hyphema, glaucoma, or blindness requires early detection and treatment. In about half of patients, cutaneous lesions appear before those in the eye and can lead to early detection of ocular lesions. Although the low incidence of ocular lesions15 does not warrant screening all patients with cutaneous lesions, certain risk factors make ocular involvement more likely. Screening should target patients with a new diagnosis of multiple skin lesions at an age of 2 years or younger.15 The treatment protocol for intraocular involvement includes topical, intralesional, and systemic steroids, followed by low-dose, noncataractogenic radiotherapy or surgery if initial treatment fails.6 Course and Prognosis JXG has a self-remitting course with spontaneous resolution in 3 to 6 years regardless of location or morphologic form.6 Recurrences after excision, even when the margins are positive, are extremely rare,8 and the overall prognosis is very good.
