Table 2 Profile of the ECD patient

Age at onset

5th - 7th decade of life

Arnaud et al. [1]

Presenting symptoms

Diabetes insipidus, bone pain and exophthalmos

Veyssier-Belot [5]

Disease distribution

Skeleton: Long bones osteosclerosis (bone pain)

Dion et al. [30]

Cranium & CNS:

Drier et al. [10]

Pituitary defects (diabetes insipidus, panhypopituitirism)

Retro-orbital lesions (exophthalmos)

Cerebellar lesions (ataxia)

Cardiovascular:

Haroche et al. [54]

Pericardial infiltration / effusion

Periaortic sheathing ("coated aorta")

Myocardial infiltration / right atrial tumor

Pulmonary:

Arnaud et al. [26]

Interstitial lung disease

Pleural effusion

Renal & Retroperitoneal:

Haroche et al. [2]

Perirenal infiltration ("hairy kidney")

Post renal obstruction (hydronephrosis)

Renal artery stenosis (renovascular hypertension)

Cutaneous: Periorbital xanthelasmae

Veyssier-Belot [5]

Imaging

^99mTc Bone Scintigraphy

Gotthardt et al. [76]

PET/CT

Arnaud et al. [77]

Treatment

1st line alternatives:

Arnaud et al. [1]

Interferon-α / Peginterferon alfa-2a

Hervier et al. [92]

2nd line alternatives:

Cladribine^*

Myra et al. [93], Adam et al. [103]

Vemurafenib

Haroche et al. [101]

Anakinra

Aouba et al. [88]

Infliximab

Dagna et al. [85]

Prognosis

1 year survival: 96%

Arnaud et al. [1]

5 year survival: 68%