Extramammary Paget disease

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Extramammary Paget disease
Diagnosis in short

Extramammary Paget's disease. H&E stain.
LM large epithelioid cells - nested or single - in the epidermis, clear/pale cytoplasm (occasionally eosinophilic), large nucleoli
LM DDx benign Toker cell hyperplasia, malignant melanoma, Bowen's disease, apocrine carcinoma of the skin
IHC CK7 +ve, CEA +ve, S-100 -ve, CK5/6 -ve, HER2 +ve
Gross erythema, +/-weeping, +/-crusted
Site vulva, penis, scrotum, others
Symptoms pruritis (itchy)
Prognosis typically benign - usually not associated with an underlying malignancy (unlike Paget's disease of the breast)
Clin. DDx contact dermatitis, lichen sclerosus

Extramammary Paget disease, abbreviated EMPD, is a skin disease. As the name suggests, there is also a Paget disease of the breast.

There is also a Paget disease of the bone - just to make things confusing. This is dealt with in the bone article and has nothing (from a pathologic perspective) to do with the Paget disease discussed in this article

General

  • Two types
    • Primary Extramammary Paget disease - a malignancy of the cutaneous apocrine glands
      • Arises in apocrine rich areas - usually the vulva but also the groin, inguinal area, perineum, penis[1] or scrotum.[2] and rarely axilla or eye.
      • Usually entirely intraepidermal but may be associated with an underlying apocrine gland carcinoma (in contrast to mammary Paget disease which is usually associated with underlying mammary carcinoma).
    • Secondary Extramammary Paget disease - intraepidermal spread from a distant tumor
      • Usually of urothelial or colorectal origin.
      • Arises in the perineal areas near these organs


Clinical:

  • Pruritis.
  • R/O VIN
  • R/O vulvitis

Gross

Features:[2]

  • Plaque with an irregular border.
  • Erythematous or white.

Clinical DDx:

  • Lichen sclerosus.[3]
  • Vulvar intraepithelial neoplasia
  • Vulvar squamous cell carcinoma in situ
  • Other vulvitis

Images

Microscopic

Features:

  • Epitheliod morphology (round/ovoid).
  • Cells nested or single.
  • Classically Paget cells ride above the basal cell layer
  • But the process can fill the entire epidermis
  • Clear/pale cytoplasm key feature - may also be eosinophilic.
  • Large nucleoli.

Images

  • Anus Pagets Disease - (SKB)

  • Anus Pagets Disease - (SKB)

  • Anus Pagets Disease - (SKB)

DDx

Stains

IHC

  • Extramammary Paget disease is a 'big' diagnosis in that the diagnosis will have significant clinical consequences. So a large panel of immuno is required to nail down the diangosis.
  • Is the lesion epithelial or melanocytic? (S100, Melan A)
  • Is the lesion adenocarcinoma or squamous cell carcinoma?
    • Low molecular weight (CK7, cam5.2) or high molecular weight keratins (34BE12, CK5/6)?
    • Adenocarcinoma markers? - CEA, BerEP4
    • Nuclear differentiation markers? - p63 (squamous) vs GATA3 (adnexal)
  • Is the lesion primary or secondary?
    • Secondary extramammary Paget disease may be CK20 positive (urothelial or rectal)
    • If CK20 is positive are other organ specific markers positive? - CDX2 - colorectal or GATA3 - urothelial

Panel:

  • A carcinoma marker - CEA or BerEP4 or both
  • Differential keratins - low molecular weight (glandular) cam5.2, CK7 vs high molecular weight (squamous) 34BE12, CK5/6[4]
  • CK7 and CK20 - where does it come from?
  • S100 and Melan A - exclude melanoma in situ
  • Differentiation markers GATA - apocrine and urothelial; p63 - squamous, CDX2 - colorectal

Notice that a CK20 negative urothelial origin EMPD will show the same immunoprofile as a primary cutaneous EMPD. Notice that you do not need to consider mammary Paget disease or Toker cells in your ddx. You can not rely on any one marker - a panel is required

    • Do not rely on CK7 alone as CK7 may be positive in pagetoid squamous cell carcinoma in situ or extramammary Paget disease [5]
    • p16 is not helpful in distinguishing between VIN and EMPD as may be positive in either. [6]

See also

References

  1. ↑ Ekwueme, KC.; Zakhour, HD.; Parr, NJ. (2009). "Extramammary Paget's disease of the penis: a case report and review of the literature.". J Med Case Reports 3: 4. doi:10.1186/1752-1947-3-4. PMID 19126202.
  2. ↑ 2.0 2.1 2.2 Guerra, R.; Misra, S. (2013). "Management of Extramammary Paget's Disease: A Case Report and Review of the Literature.". Case Rep Dermatol Med 2013: 436390. doi:10.1155/2013/436390. PMID 24349803.
  3. ↑ Bansal, D.; Bowman, CA. (Feb 2004). "Extramammary Paget's disease masquerading as lichen sclerosus.". Int J STD AIDS 15 (2): 141-2. doi:10.1258/095646204322764361. PMID 15006079.
  4. ↑ RS. May 2010.
  5. ↑ Raju, RR.; Goldblum, JR.; Hart, WR. (Apr 2003). "Pagetoid squamous cell carcinoma in situ (pagetoid Bowen's disease) of the external genitalia.". Int J Gynecol Pathol 22 (2): 127-35. PMID 12649666.
  6. ↑ Sah, SP.; McCluggage, WG. (Mar 2013). "Florid vulval Paget disease exhibiting p16 immunoreactivity and mimicking classic VIN.". Int J Gynecol Pathol 32 (2): 221-7. doi:10.1097/PGP.0b013e31825909f6. PMID 23370646.
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