Features of the Muir-Torre Syndrome:
(1) multiple internal malignancies
(2) multiple cutaneous sebaceous gland proliferations and/or keratoacanthomas and/or squamous cells carcinomas
(3) sporadic or familial pattern
Internal malignancies:
(1) colon, usually associated with colonic polyps
(2) ampulla of Vater
(3) esophagus
(4) stomach
(5) duodenum
(6) larynx
(7) genitourinary tract (renal pelvis, urinary bladder, ureter)
(8) endometrium
Sebaceous gland proliferations - usually multiple, but may be single:
(1) sebaceous hyperplasia
(2) sebaceous adenoma
(3) sebaceous epithelioma
(4) sebaceous carcinoma: This tends to behave in a less aggressive fashion than comparable lesion in patients without Muir-Torre Syndrome.
(5) basal cell carcinoma with sebaceous differentiation (probably not a true basal cell carcinoma)
While some cases may be viewed as sporadic, there is an increased risk for cancer in family members, especially colon carcinoma. Inheritance appears to be autosomal dominant.
Patients with Muir-Torre Syndrome needs to be distinguished from patients with Gardner's Syndrome, which also features the combination of colonic carcinoma and skin lesions.
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Feature
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Gardner's Syndrome
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Muir-Torre
|
|
skin lesions
|
cysts
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sebaceous gland lesions and/or keratoacanthomas
|
|
GI tract
|
multiple polyps
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polyps frequent but may be absent
|
|
osteomas
|
present
|
absent
|
|
extra-intestinal carcinoma
|
infrequent
|
frequent
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