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| |Subtype(s) | | |Subtype(s) |
| |Juvenile xanthogranuloma | | |Juvenile xanthogranuloma |
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| ==Definition / Description of Disease==
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| Juvenile Xanthogranuloma (JXG) is a clonal expansion of non–Langerhans cell histiocytes with dermal macrophage phenotype.<span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
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| ==Synonyms / Terminology==
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| Juvenile xanthogranuloma <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
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| ==Epidemiology / Prevalence==
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| Juvenile Xanthogranuloma is a rare histiocytic neoplasm comprising about 0.5% of all pediatric tumors, seldom seen in in adults. 20-35% cases are congenital, shows male predilection and mostly (>70% cases) arise during the first year of life.
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| ==Clinical Features==
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| JXG are generally asymptomatic. Infants may present with ≥1 cutaneous, pale yellow-tan, dome-shaped papulonodular lesions, approximately5% patients show multiple lesions. These lesions begin as raised, pink to dark brown lesions that might get flatten later and heal/ scar within few months or years. A clinical subtype of JXG- benign cephalic histiocytosis occurs in head and neck of young children, asymptomatic, self-healing papular lesions. The lesions are often large, solitary and persistent in adults which needs exclusion of Erdheim–Chester disease. JXG may occur in patients with neurofibromatosis type 1, also reported in Wiskott–Aldrich syndrome. <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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| {| class="wikitable"
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| |'''Signs and Symptoms'''
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| |Asymptomatic in the beginning
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| ≥1 cutaneous papulonodular lesions
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| Rarely systemic involvement with abnormal labs, ophthalmologic exam findings, seizures, hydrocephalus, diabetes Insipidus
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| |-
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| |'''Laboratory Findings'''
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| |Abnormal blood count, liver enzymes, metabolic tests
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| Cytopenia if bone marrow involved
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| |}
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| ==Sites of Involvement==
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| JXG involves and is generally confined to skin, head and neck, upper trunk and proximal extremities. Rarely ocular involvement, solitary lesion noted. Other extracutaneous sites of involvement- visceral, spinal, or intracranial area also reported rarely. <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
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| ==Morphologic Features==
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| '''Gross appearance:'''
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| Cutaneous JXGs: Early lesions are pink macules, later progress to form pale to tan, dome shaped lesions.
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| Visceral JXGs: Nodules with variable size and appearance.
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| '''Histopathology:'''
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| * Unencapsulated, circumscribed lesions composed of classic histiocytes, large xanthomatous histiocytes, foamy histiocytes and Touton giant cells..
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| * Variable numbers of lymphocytes, eosinophils, plasma cells, neutrophils, and mast cells are often intermixed along with epithelioid cells, spindle cells and oncocytic histiocytes.
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| * These histiocytes should not show significant nuclear pleomorphism.
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|
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| '''Cytology''':
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| * Mononuclear or multinucleated histiocytes with kidney shaped/oval nuclei, variable numbers of lymphocytes, neutrophils, and eosinophils.
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| * Touton giant cells or foreign body giant cells may be present.
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| ==Immunophenotype==
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| Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
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| {| class="wikitable sortable"
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| !Finding!!Marker
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| |Positive (universal)||CD68, CD163, CD4, CD14, factor XIIIa, and fascin
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| |Positive (subset)||S100 (light nuclear and cytoplasmic staining)
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| |Negative (universal)||CD1a and CD207 (langerin), ALK
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| |-
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| |Negative (subset)||N/A
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| |} | | |} |
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| ==Additional Information== | | ==Additional Information== |
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| Put your text here
| | This disease is <u>defined/characterized</u> as detailed below: |
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| | * Juvenile Xanthogranuloma (JXG) is a clonal expansion of non–Langerhans cell histiocytes with dermal macrophage phenotype. |
| | |
| | The <u>epidemiology/prevalence</u> of this disease is detailed below: |
| | |
| | * Juvenile Xanthogranuloma is a rare histiocytic neoplasm comprising about 0.5% of all pediatric tumors, seldom seen in in adults. 20-35% cases are congenital, shows male predilection and mostly (>70% cases) arise during the first year of life. |
| | |
| | The <u>clinical features</u> of this disease are detailed below: |
| | |
| | * JXG are generally asymptomatic. Infants may present with ≥1 cutaneous, pale yellow-tan, dome-shaped papulonodular lesions, approximately5% patients show multiple lesions. These lesions begin as raised, pink to dark brown lesions that might get flatten later and heal/ scar within few months or years. A clinical subtype of JXG- benign cephalic histiocytosis occurs in head and neck of young children, asymptomatic, self-healing papular lesions. The lesions are often large, solitary and persistent in adults which needs exclusion of Erdheim–Chester disease. JXG may occur in patients with neurofibromatosis type 1, also reported in Wiskott–Aldrich syndrome. |
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| | Signs and symptoms - Asymptomatic in the beginning; ≥1 cutaneous papulonodular lesions; Rarely systemic involvement with abnormal labs, ophthalmologic exam findings, seizures, hydrocephalus, diabetes Insipidus |
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| | Laboratory findings - Abnormal blood count, liver enzymes, metabolic tests; Cytopenia if bone marrow involved |
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| | The <u>sites of involvement</u> of this disease are detailed below: |
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| | * JXG involves and is generally confined to skin, head and neck, upper trunk and proximal extremities. Rarely ocular involvement, solitary lesion noted. Other extracutaneous sites of involvement- visceral, spinal, or intracranial area also reported rarely. |
| | |
| | The <u>morphologic features</u> of this disease are detailed below: |
| | |
| | '''Gross appearance:''' |
| | |
| | Cutaneous JXGs: Early lesions are pink macules, later progress to form pale to tan, dome shaped lesions. |
| | |
| | Visceral JXGs: Nodules with variable size and appearance. |
| | |
| | '''Histopathology:''' |
| | |
| | *Unencapsulated, circumscribed lesions composed of classic histiocytes, large xanthomatous histiocytes, foamy histiocytes and Touton giant cells.. |
| | *Variable numbers of lymphocytes, eosinophils, plasma cells, neutrophils, and mast cells are often intermixed along with epithelioid cells, spindle cells and oncocytic histiocytes. |
| | *These histiocytes should not show significant nuclear pleomorphism. |
| | |
| | '''Cytology''': |
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| | *Mononuclear or multinucleated histiocytes with kidney shaped/oval nuclei, variable numbers of lymphocytes, neutrophils, and eosinophils. |
| | *Touton giant cells or foreign body giant cells may be present. |
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| | The <u>immunophenotype</u> of this disease is detailed below: |
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| | Positive (universal) - CD68, CD163, CD4, CD14, factor XIIIa, and fascin |
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| | Positive (subset) - S100 (light nuclear and cytoplasmic staining) |
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| | Negative (universal) - CD1a and CD207 (langerin), ALK |
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| | Negative (subset) - N/A |
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| ==Links== | | ==Links== |
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| '''EXAMPLE Book''' | | '''EXAMPLE Book''' |
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| #John Chan et al., Juvenile xanthogranuloma, in: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>. | | #John Chan et al., Juvenile xanthogranuloma, in: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>. |
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| ==Notes== | | ==Notes== |
