Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia

Jans, Sune R R; Schomerus, Eckhard; Bygum, Anette

doi:10.1111/pde.12478

Cited by 21 publications

(7 citation statements)

References 17 publications

(26 reference statements)

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“…Some cases of JXG follow the diagnosis of LCH. 272,[396][397][398][399][400][401][402] More recently, systemic presentations of JXG with CNS involvement have shown BRAF V600E mutations. 386,387 The question that arises from these is: Should those cases be qualified as ECD/L group lesions that have not presented themselves with systemic findings (ie, brain only), or is there a truly separate group of JXG/BRAF V600E positive tumors?…”

Section: Langerhans Cell Histiocytosismentioning

confidence: 99%

Cutaneous Hematolymphoid and Histiocytic Proliferations in Children

Gru

Dehner

2018

Pediatr Dev Pathol

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This article focuses on cutaneous hematopoietic neoplasms that are more likely to be encountered in the pediatric age-group and includes both lymphoproliferative and histiocytic disorders. The cutaneous hematologic disorders in children have a different epidemiologic profile to what is seen during adulthood. Although mycosis fungoides is the most frequent form of cutaneous lymphoma in adults, it is very rare in children. Because lymphoblastic leukemias and lymphomas are more frequent in the pediatric setting, cutaneous leukemic infiltrates are relatively common in this age-group. Similarly, histiocytic disorders are more common in children, particularly Langerhans cell histiocytosis and juvenile xanthogranuloma. Notably, the histiocytic disorders have undergone significant modifications on their nomenclature in the basis of the molecular characteristics that are present in them. A summary of the most frequent cutaneous hematopoietic disorders in children will be discussed further in this review.

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Section: Langerhans Cell Histiocytosismentioning

confidence: 99%

Cutaneous Hematolymphoid and Histiocytic Proliferations in Children

Gru

Dehner

2018

Pediatr Dev Pathol

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“…In children with NF1 and JXG, the risk of developing JMML may be as high as one in 62 to 250 (0.4%–1.6%) . These numbers must be interpreted carefully because they are based on small numbers from different studies, leading to statistical uncertainties . This association may be underestimated because patients with JMML may die at an age at which children do not manifest sufficient clinical signs to make the diagnosis of NF1 .…”

Section: Discussionmentioning

confidence: 99%

Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature

Paulus

Koronowska

Fölster‐Holst

2017

Pediatric Dermatology

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The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. We present the case of a boy primarily diagnosed with NF1 with coexisting JXG who developed JMML at the age of 22 months. The clinical course from initial presentation to final diagnosis is detailed and the genetic features and hematologic characteristics are discussed. We report this case to underscore the importance of close monitoring of blood count and strict clinical follow-up in children presenting with concurrent NF1 and JXG and provide a possible explanation for this association.

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“…JXG has been found to be associated with neurofibromatosis 1 (NF1) and may be a helpful marker in diagnosing NF1 earlier in life. A few case reports have described an association between JXG and juvenile myelomonocytic leukemia (JMML), so children with pale skin, cutaneous bleeding, cough, fever of unknown origin, and hepatosplenomegaly should be evaluated for JMML .…”

Section: Discussionmentioning

confidence: 99%