What is the appropriate management for an adult patient with telangiectasias on the back of both ears, considering potential underlying conditions and the risk of skin cancer associated with significant sun exposure?

Telangiectasias on Back of Both Ears: Diagnostic and Management Approach

Immediately apply the Curaçao diagnostic criteria to evaluate for Hereditary Hemorrhagic Telangiectasia (HHT), as bilateral ear telangiectasias represent a characteristic site for this potentially life-threatening condition that requires urgent screening for asymptomatic arteriovenous malformations. 1, 2

Primary Diagnostic Priority: Screen for HHT

HHT is the most critical diagnosis to exclude when telangiectasias appear on the ears, as this autosomal dominant disorder affects 1 in 5,000-18,000 individuals and carries risk of stroke, cerebral abscess, and hemorrhage from undetected arteriovenous malformations. 1, 2

Apply Curaçao Criteria Immediately

The diagnosis requires assessment of four clinical features 1, 2:

• Spontaneous and recurrent epistaxis (nosebleeds occurring in >90% of adults with HHT, typically beginning around age 11) 1, 3
• Multiple telangiectasias at characteristic sites including lips, oral cavity (tongue, hard palate), fingers, nose, and ears 1, 2
• Visceral arteriovenous malformations in lungs, brain, liver, or gastrointestinal tract 1, 2
• First-degree relative with HHT diagnosed by these criteria 1, 2

Diagnostic interpretation: Definite HHT = 3 criteria; Possible HHT = 2 criteria; Unlikely HHT = fewer than 2 criteria 1, 2

Critical Clinical Questions to Ask

• History of recurrent nosebleeds? This is the most common symptom and often precedes visible telangiectasias 1, 3
• Family history of nosebleeds or HHT? The 50% inheritance risk makes family history crucial 1
• History of anemia, iron deficiency, or need for iron supplementation? Approximately 50% of HHT patients develop anemia from chronic bleeding 1
• Symptoms of fatigue, reduced exercise tolerance, or hair loss? These suggest iron deficiency anemia from occult bleeding 1

Physical Examination Focus

Examine systematically for additional telangiectasias 2:

• Lips and oral mucosa (tongue, hard palate, buccal mucosa)
• Fingertips and nail beds
• Nasal mucosa (if visible without instrumentation)
• Conjunctivae

Secondary Diagnostic Considerations

Exclude Radiation-Induced Telangiectasias

Ask specifically about prior radiation therapy to the head/neck region, as radiation-induced telangiectasias develop in irradiated tissues and can appear years after treatment, with risk determined by radiation dose. 2 These lesions often heal spontaneously over 5-10 years. 2

Consider Ataxia Telangiectasia (If Pediatric Patient)

Telangiectasias appear in childhood (typically by age 5) with progressive neurological deterioration including ataxia, oculomotor apraxia, and immunodeficiency. 2 This presents very differently from isolated ear telangiectasias in adults.

Evaluate for Actinic Damage and Skin Cancer Risk

The ears are a high-risk site for squamous cell carcinoma, with higher metastatic potential when SCC arises on the ear. 4 The British Association of Dermatologists emphasizes that thicker actinic keratoses on the ear may warrant curettage early to obtain histology and avoid missed early SCC. 4

For any thicker lesions or areas of concern:

• Histological diagnosis by shave biopsy or excision is recommended to differentiate actinic keratoses from invasive SCC 4
• The ear requires greater priority for treatment given the higher risk of progression to invasive cancer 4

Management Algorithm Based on Findings

If ≥2 Curaçao Criteria Present (Possible or Definite HHT)

Refer immediately to HHT specialist for comprehensive organ screening 1, 2:

1. Pulmonary AVM screening with contrast echocardiography or chest CT (pulmonary AVMs create right-to-left shunts causing risk of stroke and brain abscess) 1

2. Cerebral AVM screening with brain MRI (nearly 1 in 5 HHT patients develop stroke or cerebral abscess) 1

3. Hepatic screening with Doppler ultrasonography as first-line imaging (hepatic involvement occurs in 44-74% but only 5-8% are symptomatic) 1

4. Genetic testing for ENG, ACVRL1, and SMAD4 mutations (identifies causative mutations in 97% of clinically definite cases) 1

Critical pitfall: Never perform liver biopsy in patients with proven or suspected HHT due to catastrophic hemorrhage risk from vascular malformations. 1, 2

If <2 Curaçao Criteria (HHT Unlikely)

Evaluate for actinic damage and skin cancer risk 4:

• Sun protection counseling: Broad-brimmed hat, sunscreen, avoid excessive UV exposure 4
• Annual dermatology examination for skin cancer surveillance 4
• Biopsy any suspicious lesions on the ear given higher metastatic risk 4

Consider cosmetic treatment options if desired 5, 6:

• Pulsed laser therapy for cosmetic improvement 4
• Microsclerotherapy with sodium tetradecyl sulfate or polidocanol 5, 6
• These are elective interventions for appearance only 5

Critical Pitfalls to Avoid

• Never dismiss isolated ear telangiectasias without screening for HHT, as this represents a potentially life-threatening condition with asymptomatic arteriovenous malformations 2
• Never perform liver biopsy in any patient with proven or suspected HHT 1, 2
• Do not focus solely on cosmetic treatment without first excluding systemic disease 2, 7
• Do not delay referral if ≥2 Curaçao criteria are present—early detection of AVMs prevents stroke and hemorrhage 1, 2

When Genetic Testing Shows Variants of Uncertain Significance

If genetic testing reveals a variant of uncertain significance (VUS) in ENG or other HHT genes, manage based solely on clinical Curaçao criteria, not the genetic finding. 1 A VUS cannot be used to diagnose HHT, guide clinical management, or perform predictive testing in family members. 1