Presence of Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Same Patient: A Report of 2 Cases

Pineles, Stacy L.; Liu, Grant T.; Acebes, Xènia; Arruga, J; Nasta, Sunita Dwivedy; Glaser, Ruchira; Pramick, Michelle; Fogt, Franz; Roux, Peter Le; Gausas, Roberta E.

doi:10.1097/wno.0b013e31820a204e

Cited by 46 publications

(35 citation statements)

References 17 publications

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“…Until now, 13 cases of coexistent LCH and ECD have been reported worldwide [21,22]. Coexistence has occurred exclusively in adults so far.…”

Section: Discussionmentioning

confidence: 99%

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

Yin¹,

Zhang²,

Zhang³

et al. 2013

The Oncologist

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Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of LCH. Several years later, the patient presented with severe exophthalmos and osteosclerosis on radiograph. New biopsy revealed ECD. We also analyze 54 cases of LCH and 6 cases of ECD diagnosed in our hospital, as well as their progression during a follow-up period of 8 years. In five cases of HSC (9.3% of LCH), a triad of central diabetes insipidus, hyperprolactinemia, and pituitary stalk thickening on magnetic resonance imaging (MRI) preceded the typical bone lesions by 4 -9 years. In addition, LCH was featured as elevated plasma alkaline phosphatase (ALP), which was normal in ECD. Combined with a literature review, several features are summarized to differentiate ECD from HSC. In patients with diabetes insipidus, concomitant hyperprolactinemia and pituitary stalk thickening on MRI indicate a possible HSC. Additionally, if osteosclerosis is observed in a patient with LCH, the coexistence of ECD should be considered. The Oncologist 2013;18:19 -24 Implications for Practice: Central diabetes insipitus (CDI) is usually the first or one of the first symptoms of Hand-Schüller-Christian disease (HSC). It is difficult to determine whether CDI is part of HSC at its onset. We propose a new triad of symptoms including central diabetes insipitus, hyperprolactinemia, and pituitary stalk thickening on MRI. If a patient is present with the triad, HSC should be considered. Bone scans are very useful to reveal HSC in the absence of bone pain. Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are featured with osteolytic lesions and osteosclerosis, respectively. If osteosclerosis is observed in a patient with LCH, coexistence of ECD should be considered. A new biopsy is helpful for the diagnosis.

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“…Until now, 13 cases of coexistent LCH and ECD have been reported worldwide [21,22]. Coexistence has occurred exclusively in adults so far.…”

Section: Discussionmentioning

confidence: 99%

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

Yin¹,

Zhang²,

Zhang³

et al. 2013

The Oncologist

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“…Among them, case 3 showed increased responses of PRL to TRH, and case 4 and 8 showed adequate responses of gonadotropin to GnRH in spite of showing hypogonadotropic hypogonadism, supporting the presence of suprasellar dysfunction. Case 12 [20], 13 [21] and 14 [22] as well as case 5 showed suprasellar mass in MRIs, suggesting that their hypopituitarism is due to suprasellar dysfunction. In fact, in case 9 [23], autopsy proved that the anterior lobe was intact and the posterior lobe was completely replaced by xanthogranulomatous infiltrates.…”

Section: Hypothalamic-pituitary Imaging In Ecdmentioning

confidence: 99%

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

2014

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“…The association of LCH with ECD (hereafter referred to "mixed histiocytosis") seems to be the most frequent, with 17 cases reported in the English language literature. [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27] We report a multicenter series of 23 patients affected by both LCH and ECD.…”

Section: Cd68mentioning

confidence: 99%

Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation

Hervier

Haroche

Arnaud

et al. 2014

Blood

226

165

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Key Points• The association of both Langerhans cell histiocytosis and Erdheim-Chester disease is not exceptional. • This association is linked to BRAF V600E mutation.Histiocytoses are a group of heterogeneous diseases that mostly comprise Langerhans cell histiocytosis (LCH) and non-LCH. The association of LCH with non-LCH is exceptional. We report 23 patients with biopsy-proven LCH associated with Erdheim-Chester disease (ECD) (mixed histiocytosis) and discuss the significance of this association. We compare the clinical phenotypes of these patients with those of 56 patients with isolated LCH and 53 patients with isolated ECD. The average age at diagnosis was 43 years. ECD followed (n 5 12) or was diagnosed simultaneously with (n 5 11) but never preceded LCH. Although heterogeneous, the phenotype of patients with mixed histiocytosis was closer to that of isolated ECD than to that of isolated LCH (principal component analysis). LCH and ECD improved in response to interferon alpha-2a treatment in only 50% of patients (8 of 16). We found the BRAF V600E mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. Eight patients had mutations in both ECD and LCH biopsies. Our findings indicate that the association of LCH and ECD is not fortuitous and suggest a link between these diseases involving the BRAF V600E mutation. (Blood.

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Presence of Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Same Patient: A Report of 2 Cases

Cited by 46 publications

References 17 publications

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

Erdheim-Chester disease and pituitary involvement: a unique case and the literature

Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation

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