8.3 Oral Mucosal, Lip, Genital Mucosal & Perianal (Proctological) Disease
Key Takeaways
- Minor aphthous ulcers are under 1 cm and heal in 7 to 14 days without scarring, whereas major aphthae exceed 1 cm, last weeks, and scar.
- The International Criteria for Behçet Disease give 2 points each for oral aphthosis, genital aphthosis, and ocular lesions and 1 point each for skin, neurological, and vascular lesions and a positive pathergy test, with 4 points diagnostic.
- Oral leukoplakia is a clinical diagnosis of a white patch of questionable cancer risk, and persistent leukoplakia or any erythroplakia needs biopsy to assess dysplasia.
- Apremilast is approved in the EU for oral ulcers of Behçet disease in adults who are candidates for systemic therapy.
- A chronic anal fissure is usually in the posterior midline, and a lateral or multiple fissure should prompt a search for Crohn disease, HIV, syphilis, tuberculosis, or cancer.
8.3 Oral Mucosal, Lip, Genital Mucosal & Perianal (Proctological) Disease
Normal Variants of the Oral Mucosa
| Variant | Features |
|---|---|
| Fordyce spots | Small yellow ectopic sebaceous glands on lips and buccal mucosa |
| Geographic tongue (benign migratory glossitis) | Changing red patches with white borders; linked to psoriasis and atopy |
| Fissured tongue | Deep grooves; seen in Melkersson-Rosenthal and Down syndromes |
| Black hairy tongue | Elongated filiform papillae, after antibiotics, smoking, or poor hygiene |
| Leukoedema | Grey-white buccal film that disappears when stretched |
| Tori | Bony swellings of the palate or mandible |
Recurrent Aphthous Stomatitis
| Type | Size and Course |
|---|---|
| Minor (about 80%) | Under 1 cm, round with a yellow base and red halo, heals in 7–14 days without scarring |
| Major | Over 1 cm, deep, lasts weeks, heals with scarring |
| Herpetiform | Dozens of tiny ulcers that may merge |
Look for underlying causes: iron, vitamin B12, and folate deficiency; coeliac disease and inflammatory bowel disease; Behçet disease; HIV; cyclic neutropenia; PFAPA syndrome in children (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis); and drugs, especially nicorandil (large painful ulcers) and NSAIDs.
Treatment: topical corticosteroids (mouthwash, paste, or spray), chlorhexidine or benzydamine mouthwash, and correcting deficiencies. Colchicine or dapsone are used for recurrent severe disease.
Behçet Disease
A variable-vessel vasculitis, most common along the ancient Silk Road (Turkey, the Middle East, East Asia) and linked to HLA-B*51.
International Criteria for Behçet Disease (ICBD, 2014):
| Feature | Points |
|---|---|
| Oral aphthosis | 2 |
| Genital aphthosis | 2 |
| Ocular lesions (uveitis, retinal vasculitis) | 2 |
| Skin lesions (pseudofolliculitis, erythema nodosum) | 1 |
| Neurological manifestations | 1 |
| Vascular manifestations (thrombosis, aneurysms) | 1 |
| Positive pathergy test (optional) | 1 |
A score of 4 or more indicates Behçet disease. Genital ulcers usually affect the scrotum or labia and often scar.
Treatment (EULAR recommendations): colchicine for mucocutaneous disease and erythema nodosum; apremilast (EU-approved for oral ulcers of Behçet disease); topical steroids; azathioprine, TNF-alpha inhibitors, or interferon-alpha for eye, neurological, and vascular disease.
White and Red Lesions
| Lesion | Features | Action |
|---|---|---|
| Pseudomembranous candidiasis | Creamy plaques that wipe off, leaving red mucosa | Antifungals; look for inhaled steroids, diabetes, dentures, immunosuppression, HIV |
| Oral lichen planus | Lacy white striae, often bilateral on buccal mucosa | See lichen planus section |
| Frictional keratosis | White area at a site of chronic rubbing | Remove the cause and review |
| Oral hairy leukoplakia | Corrugated white plaques on the lateral tongue, do not wipe off | EBV; suggests HIV or other immunosuppression |
| White sponge naevus | Soft white folds from childhood | Benign; keratin 4 or 13 mutations |
| Leukoplakia | A white patch that cannot be explained by any other condition | Biopsy to grade dysplasia; stop tobacco and alcohol; long-term review. Proliferative verrucous leukoplakia has a high cancer risk |
| Erythroplakia | Red velvety patch | Highest risk of dysplasia or carcinoma; always biopsy |
Oral squamous cell carcinoma: risk factors are tobacco, alcohol, betel quid, and immunosuppression; HPV mainly drives oropharyngeal cancer. Any ulcer that has not healed within about 3 weeks needs biopsy.
Pigmented, Blistering, and Other Oral Lesions
- Pigmented: amalgam tattoo, oral melanotic macule, smoker's melanosis, Addison disease, Peutz-Jeghers syndrome, drugs (antimalarials, minocycline), and oral melanoma (palate and gingiva).
- Blistering and erosive: pemphigus vulgaris (often starts in the mouth), mucous membrane pemphigoid (desquamative gingivitis), erythema multiforme (haemorrhagic crusting of the lips), SJS/TEN, paraneoplastic pemphigus, and erosive lichen planus.
- Viral: primary herpetic gingivostomatitis; hand, foot, and mouth disease (coxsackievirus A16 or enterovirus A71; the coxsackie A6 variant is more widespread and can cause later onychomadesis); herpangina.
- Burning mouth syndrome: burning pain with normal mucosa, mainly in postmenopausal women. First exclude deficiencies, candidiasis, dry mouth, and contact allergy; topical clonazepam is one treatment option.
- Dry mouth (xerostomia): Sjögren syndrome, drugs (anticholinergics, antidepressants), and head and neck radiotherapy.
Lip Disorders
| Disorder | Features |
|---|---|
| Angular cheilitis | Fissuring at mouth corners from Candida or S. aureus, deep folds, dentures, iron or B-vitamin deficiency |
| Actinic cheilitis | Scaly, blurred vermilion border of the lower lip from chronic sun exposure; premalignant. Treatment: 5-fluorouracil, imiquimod, photodynamic therapy, laser, or vermilionectomy |
| Lip squamous cell carcinoma | Mostly lower lip, in smokers and outdoor workers; higher metastatic risk than most skin SCC |
| Contact cheilitis | Lipsticks, toothpaste flavours, fragrance; patch test |
| Exfoliative cheilitis | Persistent peeling, often from lip licking or picking |
| Cheilitis granulomatosa | Persistent swelling; exclude Crohn disease and sarcoidosis |
Non-Infectious Genital Mucosal Disease
- Lichen sclerosus of the vulva and penis (see the anogenital section): porcelain-white atrophic plaques, scarring, and a risk of squamous cell carcinoma; treat with very potent topical steroids.
- Zoon (plasma cell) balanitis: a shiny orange-red patch on the glans of uncircumcised older men; plasma cells on biopsy; improves with hygiene and topical steroids, and circumcision is curative. Zoon vulvitis is the rare female form.
- Other causes: psoriasis (no scale on the glans), eczema, fixed drug eruption, Behçet disease, lichen planus, and intraepithelial neoplasia (see the HPV section).
Perianal and Anal Disorders (Proctology)
| Disorder | Key Features | Management |
|---|---|---|
| Haemorrhoids | Internal (graded I–IV by prolapse) cause painless bleeding; thrombosed external haemorrhoids are acutely painful | Fibre and fluids; banding or surgery for internal; early excision of a thrombosed external haemorrhoid |
| Anal fissure | Tearing pain on defecation with bright red blood; usually posterior midline; sphincter spasm | Stool softeners, topical glyceryl trinitrate or diltiazem, botulinum toxin, lateral internal sphincterotomy. Lateral or multiple fissures: consider Crohn disease, HIV, syphilis, tuberculosis, or cancer |
| Perianal abscess and fistula | Painful swelling, discharge; fistulas are common in Crohn disease | Surgical drainage; MRI; manage Crohn disease |
| Pruritus ani | Chronic perianal itch | Look for secondary causes: poor or excessive hygiene, contact allergy (topical anaesthetics, fragrances), psoriasis, lichen sclerosus, Candida, haemorrhoids, and threadworm (tape test; treat the household with mebendazole) |
| Perianal streptococcal dermatitis | Bright red, sharply defined perianal rash in young children, with pain on defecation | Swab for group A streptococcus; oral penicillin |
| Anal warts and anal intraepithelial neoplasia | See the HPV section | — |
| Pilonidal sinus | Midline natal cleft sinus with abscesses; part of the follicular occlusion group | Surgical treatment |
A 30-year-old Turkish man has recurrent painful oral aphthae and scrotal ulcers that have scarred, plus acneiform pseudofolliculitis on his back. An eye examination is normal. What is his ICBD score, and does he meet the criteria for Behçet disease?
A 60-year-old smoker has a persistent white patch on the floor of the mouth that cannot be wiped off and has no obvious cause. What is the most appropriate management?
A 28-year-old woman has recurrent anal pain and bleeding. Examination shows two fissures, one on each lateral side of the anal canal, and a skin tag. What is the most important next step?
A 72-year-old uncircumcised man has a well-defined, shiny, orange-red patch on the glans that has been present for 2 years. Biopsy shows a dense plasma cell infiltrate. What is the definitive treatment?