Download Odell et al., JCEM 76(3), 1993

Xanthoma Disseminatum
Dept. of Endocrinology and Metabolism
Sang Youl Rhee, MD
Contents
Histiocyte and related cell
Xanthoma Disseminatum
Discussions about this patient
Histiocyte
Differentiated from monocyte
Function of monocyte family
- phagocytosis
- antigen presenting to lymphocyte
- secrete cytokines
 interferon, plasminogen activator,
prostaglandin, colony stimulating factor
Histiocyte
Histiocyte  macrophage in the tissue
Dendritic cell antigen presenting
Diameter : 15-20 um
Phagocyte foreign body
 lipophage, neutrophage,
erythrophage, siderophage
Histiocyte
Classification of the histiocytosis
Odell et al., JCEM 76(3), 1993
Immunohistochemistry findings
Favara et al., Med Pediatr Oncol 29(157), 1997
Favara et al., Med Pediatr Oncol 29(157), 1997
Contents
Histiocyte and related cell
Xanthoma Disseminatum (XD)
Discussions about this patient
Xanthoma Disseminatum (XD)
A rare nonmalignant histiocytic disorder
Describe by Montgomery for the first time
Montgomery et al., Arch Dermatol Syphilol 37, 1938
Considered as definite disease entity by
Altman et al.
Altman et al., Arch Dermatol 86, 1962
Xanthoma Disseminatum
Epidemiology
- about 100 cases reported until 1985
Blobstein et al. Arch Dermatol 121, 1985
- male : female = 2.4 : 1
- onset of disease  64% of pt, < age 25 yrs
Altman et al., Arch Dermatol 86, 1962
Xanthoma Disseminatum
Normolipidemic
 XD caused by lipid phagocytosis of histiocyte
Parker et al., J am Acad Dermatol 13, 1985
Most commonly have skin xanthomata, xanthomata
involving the upper respiratory tract
DI, sometimes transient
 about 40% of total patient
Ford et al., Proc R Soc Med. 78 (suppl), 1985
Skin manifestation of XD
Hundreds of papules
 red-brown colored at first
 become yellowish
 quickly to merge
 form verrucous papules
site
 trunk, face, eyelid,
prox. extremity, flexures
and folds
Odell et al., JCEM 76(3), 1993
Skin manifestations of XD
Scully et al., NEJM 338(16), 1998
Skin manifestations of XD
Pfeiffer et al., Eur Neurol 44, 2000
Skin manifestations of XD
Hisanaga et al., Dermatology 208, 2004
Upper airway and mucosal invasion of XD
Mucous membrane involve
- 50% of total pt
- site :
 mouth, pharynx, larynx,
conjunctiva
Woollons et al., Clinic and Exper Dermatol 23, 1998
Pathologic findings of XD
Diffuse lipid laiden histiocytosis  foam cell
Touton type giant cell
Immunohistochemistry
Favara et al., Med Pediatr Oncol 29(157), 1997
Pathologic findings of XD
Skin
Hisanaga et al., Dermatology 208, 2004
Pathologic findings of XD
Larynx
Scully et al., NEJM 338(16), 1998
Differential diagnosis
Juvenile Xanthogranuloma (JXG)
- JXG and XD  clinical variants
- same immunohistochemistry pattern
- diagnose by clinical presentation
• JXG : usu. head, neck, upper trunk, childhood
 can arise during adolescence or adult
• XD : affects more older pts, disseminated pattern
Freyer et al., J Pediatr 129, 1996
Knobler et al. J Am Acad Dermatol 23, 1990
Hammond et al. Clin Neuropathol 14, 1995
Prognosis
Usually self-limited, benign
Weiss et al., Clin Invest 71, 1993
Classified as 3 clinical form  review 7cases
- Self-healing form
- Persistent form
- progressive form
Caputo et al., Clin Investig 190, 1995
Prognosis
Few fatal cases also reported
 CNS involve
Knobler et al., J Am Acad Dermatol 23, 1990
 airway obx. d/t laryngeal involve
Scully et al., NEJM 338(16), 1998
 pulmonary involvement
Hisanaga et al., Dermatology 208, 2004
Management
Usually not helpful
Odell et al., JCEM 76(3), 1993
Systemic glucocorticoid and antimitotic agents
Pandhi et al., Arch Dermatol 126, 1990
Vasopressin for DI associated condition
Clofibrate
Kumakiri et al., J Am Acad Dermatol 4, 1981
Electrocautery
Contents
Histiocyte and related cell
Xanthoma Disseminatum
Further Discussions about this patient
GI mucosal invasion of XD
Hisanaga et al., Dermatology 208, 2004
Possibility of GI mucosal involvement
We should consider possibility about gastric
and colon mucosal involvement in this patient
EGD finding of patient performed in 6th Mar, 2003
CNS invasion of XD
Pfeiffer et al., Eur Neurol 44, 2000
Evidence of CNS involve ?
Does the Cb and Cbll infarction of patient
correlate with XD ?
MRI finding of patient performed in 19th Jun, 2005
Evidence of Pituitary & Stalk disease ?
We should also consider possibility about
pituitary & stalk disease and CNS involvement
MRI finding of patient performed in 19th Jun, 2005
Bony invasion of XD
Only 2 cases report
until 1995
 osteolytic bony lesion
 do not evaluate skeletal
examination other than
XR or bone scan
Odell et al., JCEM 76(3), 1993
Evidence of Osteolytic lesion?
We could also find osteolytic & osteoporotic
bony lesion in Knee XR of this patient
Knee XR of patient performed in 19th Mar, 2003
Current cases reporting in Korea
Total 4 cases reporting in Korea
Thank you for your attention