Appearance of Mucocutaneous Telangiectasia
Mucocutaneous telangiectasias appear as small red-purple focal lesions that are punctate (dot-like), linear, or splinter-shaped, representing dilated superficial blood vessels visible through the skin and mucous membranes. 1, 2
Physical Characteristics
Size and Shape
- Telangiectasias manifest with considerable variation in size and shape, ranging from tiny punctate macules to linear or splinter-like patterns 1, 3
- The lesions represent prominent small vessels (venules, capillaries, or arterioles) that become visible as focal red-purple lesions 2
- Individual lesions can appear as small red spots on affected areas 4
Color and Appearance
- The characteristic color is red to red-purple, reflecting the dilated blood vessels beneath the surface 1, 2
- On histopathologic examination, these lesions show dilated capillaries lined by flat endothelial cells in the papillary dermis 1
- Some telangiectasias may appear as red, telangiectatic macules in a tan or brown background (particularly in telangiectasia macularis eruptiva persistans, a rare form of cutaneous mastocytosis) 5
Distribution Patterns
Most Common Locations
- Nasal mucosa: Present in 90% of hereditary hemorrhagic telangiectasia (HHT) patients, where they are most commonly hemorrhagic 3
- Oral cavity: Second most common site after nasal mucosa, including lips, tongue, and base of tongue 3, 4
- Facial skin: Particularly the cheeks and lower lip 3, 6
- Hands: Fingertips and nail beds are characteristic locations 1, 3
- Upper body: Including auricles, thorax, and supraclavicular fossa 3
Age of Onset
- The earliest documented onset of cutaneous telangiectasias occurs at age 6 years, earlier than traditionally recognized 3
- Most lesions appear by age 21, though the disorder can present at age 10 4
- Symptoms typically appear around age 30 in HHT type 1, with epistaxis starting at mean age 11 years 7
Clinical Significance
Hemorrhagic Potential
- Telangiectasias on nasal mucosa are most commonly hemorrhagic, causing recurrent epistaxis 3
- More than 25% of patients experience hemorrhages outside the nose, contrary to previous assumptions 3
- Severe hemorrhages requiring treatment occur in 12% of cases, particularly from lesions on the base of tongue, body of tongue, fingers, and supraclavicular fossa skin 3
Diagnostic Importance
- These lesions serve as a cutaneous marker for serious systemic disorders, particularly hereditary hemorrhagic telangiectasia 3, 2
- Multiple telangiectasias at characteristic sites (lips, oral cavity, fingers, nose) constitute one of the four Curaçao diagnostic criteria for HHT 8
- The pattern of distribution, age of onset, and associated features help distinguish between different disorders 2
Important Clinical Caveat
Telangiectasias represent a hallmark of serious disorders rather than merely a cosmetic problem, and their presence should prompt evaluation for underlying systemic conditions, particularly when located in characteristic distributions or associated with recurrent bleeding 3