Patient Presentation
A 6-year-old female came to clinic because of two small red spots on her cheeks that her parents wanted evaluated. They had noticed them over the past few months after getting some professional photographs made. They just seemed to have appeared and were not getting larger. They were not elevated, had no erythema and were not bothering her. The past medical history was non-contributory. The family history was negative for dermatological problems except for some sensitive skin in her older sister. There were no neurological problems, but there was coronary artery disease and diabetes. The review of systems was negative including no problems with her eyes or central nervous system.

The pertinent physical exam showed a healthy, smiling school-aged child with growth parameters around the 25%. Her physical examination was negative including her eyes and detailed neurological examination. She had two lesions located on both upper cheeks. They were 2-3 mm in size and using the otoscope for magnification showed a central macule with radiating fine vessels, and was a medium red color. She also had a flat brown macule 2.5 cm and oval in shape on her posterior left lower leg.

The diagnosis of two telangiectasias were made. The pediatrician reviewed information on the Internet about telangiectasias and also symptoms of ataxia-telangiectasia, and concluded that these appeared to be simple telangiectasias and no further evaluation was necessary. The pediatrician did discuss use of sunscreen with the family also as a preventative measure.

Discussion
Vascular stains are common problems that parents seek guidance about as they are often particularly worried that there may be an underlying problem or that it may be a long-term cosmetic problem. Fortunately many resolve or become less prominent or have treatment available. The term vascular stains includes all vascular malformations but commonly refers more directly to capillary malformations which are quite common.
Some common vascular stains include:

• Nevus simplex
  • Names: Angel’s kiss (glabella or forehead), salmon patch, stork bite (nape of neck), nevus roseus, fading macular stain
  • Epidemiology: Very common in newborns (82%)
  • Appearance: Pink to bright red or violaceous with indistinct borders, midline location. Becomes more distinct with activity
  • Associated with: eczema can occur in the affected areas, can be seen with other problems such as occult spinal dysraphism, Beckwith-Wiedemann syndrome, and odontodysplasia but these have other signs and symptoms which permit recognition
  • Evaluation: None
  • Natural history: Generally fades but neck nape and glabella are more likely to be chronic
  • DDX: Port-wine stain (PWS) but this is usually more lateral
• Port-wine stain (PWS)
  • Names: Nevus flammeus
  • Appearance: Light red to dark purple, solid across the tissue, persistent, usually more lateral location but can occur anywhere
  • Associated with: Sturge-Weber syndrome if located in V1 cranial nerve distribution, Glaucoma if has periocular PWS
  • Evaluation: MRI and neurology examination for patients at risk for Sturge-Weber syndrome, Periocular PWS needs frequent ophthalmological evaluation
  • Natural history: Lesions in the limb and trunk distribution are stable or lighten, facial lesions may become darker, tissue hypertrophy of the underlying tissues can occur
• Geographic stains
  • Appearance: Looks like a map with sharp demarcated boarders, dark red to purple but can be lighter, can have overlying blebs
  • Associated with: Klippel-Trenaunay syndrome, vascular overgrowth syndromes such as Proteus or CLOVES
  • Evaluation: Varies, monitoring for overgrowth syndromes, and other venous or lymphatic anomalies
  • Natural history: Chronic
• Reticular capillary malformations
  • Epidemiology: Reticulated stains
  • Appearance: Pale pink to light red, reticulated, diffuse indistinct borders, can be quite extensive
  • Associated with: Non-progressive overgrowth, macrodactaly, subcutaneous veins, varicosities, macrocephaly-capillary malformation syndrome
  • Evaluation: Orthopaedic evaluation for limb discrepancies, ultrasound may be needed to screen for Wilms tumor if there is overgrowth, neurological evaluation for patients with brain involvement
  • Natural history: Chronic
  • DDX: Klippel-Trenaunay syndrome
• Capillary malformation-arteriovenous malformation
  • Appearance: Round/oval stain with a peripheral halo, multi-focal
  • Associated with: Arteriovenous malformations, autosomal dominant
  • Evaluation: Possible spinal or brain MRI for patients and affected relatives
  • Natural history: Chronic
• Cutis marmorata telangiectatica congenita
  • Names: Congenital generalized phlebectasia, Congenital phlebectasia, Nevus vascularis reticularis, Congenital livedo reticularis
  • Appearance: Dark, well-demarcated stains, reticulated bands in a marble like pattern, persistent and are warm, epidermal atrophy
  • Associated with: Asymmetric capillary malformations of the body, facial stains associated with glaucoma
  • Evaluation: Ophthalmology evaluation for facial stains
  • Natural history: Improvement over first few years of age
  • DDX: Reticulated capillary malformations

Infantile hemangiomas are one of the most common lesions in the differential diagnosis of vascular stains especially nevus simplex or PWS.

• Appearance: Flat lesions with coarse telangiectatic vessels within the lesion with a distinct peripheral halo
• Associated with: ulceration if the lesion grows quickly. Functional problems can also occur because of location such as visual impairment or airway compromise
• Evaluation: None
• Natural history: often enlarge in the first 3 months of life and then diminish or resolve after 1 year. Resolution may be complete or incomplete.

Ataxia telangiectasia is one of the most worrisome diseases because of the multisystem involvement.

• Appearance: ocular (mainly bulbar) and cutaneous telangiectasias (especially in exposed areas). Telangiectasias usually appear in preschool age group.
  Patients can also have cerebellar ataxia, growth retardation, recurrent sinopulmonary infections, immunodeficiencies, increased radiosensitivity and increased risk of malignancy and diabetes

• Associated with: autosomal recessive (chromosome 11q22.3) coding for ATM gene which is a kinase involved in damaged DNA detection
• Evaluation: Patients need to be followed by neurology and closely for potential malignancies
• Natural history: It is currently usually progressive with shortened life span

Learning Point

Telangiectasias
“are a heterogeneous group of capillary malformations characterized by dilated capillary vessels that appear as small punctate red stains with a stellate or spike-like shape.”
They can be solitary such as the common spider angiomas, but can also be multiple.

Multiple telangietasias have 3 main clinical forms:

• Unilateral nevoid telangiectasia
  • Appearance: Multiple telangiectasias usually in the neck and upper extremities with a linear or segmental distribution
  • Associated with: Sporadic disorder
  • Natural history: Benign with good prognosis
• Hereditary benign telangiectasia
  • Appearance: Multiple telangiectasias usually starting on the face in early life and spreading to rest of body until adolescence, various sizes and shapes
  • Associated with: Autosomal dominant disorder
  • Natural history: Benign with good prognosis
• Hereditary hemorrhagic telangiectasia
  • Names: Osler-Weber-Rendu disease
  • Appearance: Involves face, lips and hands, has central macule or papule without radiating vessels usually
  • Associated with: Autosomal dominant disorder
  • Natural history: Associated with mucosal or visceral hemorrhages

Questions for Further Discussion
1. What are common overgrowth syndromes? A review can be found here.
2. What are common phacomatoses? A review can be found here.

Related Cases

Disease: Telangiectasia | Arteriovenous Malformations | Ataxia Telangiectasia

Symptom/Presentation: Pigmentary Lesions

Specialty: Dermatology

Age: School Ager

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Arteriovenous Malformations and Ataxia Telangiectasia.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Rozas-Munoz E, Frieden IJ, Roe E, Puig L, Baselga E.Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. Pediatr Dermatol. 2016 Nov;33(6):570-584.

Blei F, Guarini A. Current workup and therapy of infantile hemangiomas. Clin Dermatol. 2014 Jul-Aug;32(4):459-70.

Gontijo B. Complications of infantile hemangiomas. Clin Dermatol. 2014 Jul-Aug;32(4):471-6.

Rozas-Munoz E, Frieden IJ, Roe E, Puig L, Baselga E. Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management. Pediatr Dermatol. 2016 Nov;33(6):570-584.

Opal C, Bonilla FA, Ataxia-telangiectasia. UpToDate. (rev. 1/3/17, cited 11/17/17).

Shovlin C. Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasis (Osler-Weber-Rendu syndrome). UpToDate. (rev 9/29/17, cited 11/17/17).

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa