Vulvar Paget disease

Definition

Paget's Disease of the Vulva

• Histology: Histologically, one finds large, pale, vacuolated Paget cells, singly and in nests within the epidermis.
• Classification: The disease is classified into a primary cutaneous form and a secondary form resulting from the spread of an anorectal or urothelial carcinoma.
• Work-up: A complete work-up therefore includes examination of the anorectum and urinary tract, as well as a search for an invasive component.

• Extramammary Paget disease is a rare cutaneous adenocarcinoma arising in skin regions with a high density of apocrine glands, most frequently the vulva.

Classification

• The primary type arises within the epidermis, thought to result from malignant transformation of a cell in the underlying adnexal structures.
• The secondary type results from epidermotropic spread of an underlying visceral carcinoma, most commonly of anorectal or urothelial origin; in previous cohorts it accounted for about 11–18 % of cases.

Occurrence & epidemiology

Epidemiology

• Mainly older adults are affected, typically between 50 and 80 years of age.
• About 10–30 % of patients have an associated internal malignancy, most commonly of the colon, breast or genitourinary tract.

Clinical features

• The most common symptom is itching; lesions mostly present as erythema or red plaques, often with erosions, scaling or hypo- or hyperpigmentation on the surface.
• The lesions expand slowly and progress chronically; because the picture mimics benign infectious or inflammatory dermatoses, the diagnosis is frequently delayed.

Histology

• Paget cells lie scattered or in nests within the epidermis; they are large, round to oval and have abundant pale cytoplasm and large hyperchromatic nuclei.
• The primary type typically expresses CK7 and TRPS1, but GCDFP-15 in only about 68 % of cases; secondary disease of colorectal origin usually expresses CK20, CDX2 and SATB2, urothelial disease GATA3, p63 and uroplakin II/III.
• The profiles overlap: CK20 is found in about 22 % of primary and CK7 in about 81 % of secondary cases; S100 is not expressed in either type.

Diagnosis

• The diagnosis is confirmed by skin biopsy; a panel of immunohistochemical markers rather than a single marker is used to distinguish the primary from the secondary type.

Keep learning in the app

Further reading (selection)

1. StatPearls: Extramammary Paget Disease (NCBI Bookshelf)
2. Diagnostic Algorithm for Secondary Extramammary Paget Disease from Institutional Cases and Literature Review (Cancers 2025, PubMed Central)
3. Clinicopathological Analysis of 40 Cases of Extramammary Paget Disease: A Retrospective Study (Clin Cosmet Investig Dermatol 2026, PubMed Central)
4. DocCheck Flexikon, Morbus Paget

Cross-references