Flat pink/red patches in the midline or symmetrically distributed on the nape of neck, eyelids, forehead, nasal alae, and occasionally on the upper lip and the lumbosacral surface.

May darken when the child cries but do not progress and are not associated with thickening of the underlying soft tissue.

Persistent cutis marmorata (reticulated mottling) not resolving with warming; starts with pinkish blue, reticular patches; in time atrophy develops following the vascular pattern and cutaneous ulceration; most often unilateral and localized on lower limbs (upper limbs, trunk, and face can be involved); may also have phlebectasia (dilation of veins), telangiectasia, and PWSs.

Associated abnormalities

Up to 89% of patients.

Common

• Musculoskeletal: Hypoplasia and hypertrophy of involved limbs; may be subtle.
  
• Vascular: Usually venous anomalies of the underlying soft tissue.

Less common to rare

• Musculoskeletal: Macrocephaly.
  
• Neurodevelopmental: Mental and psychomotor retardation.
  
• Ophthalmologic: Glaucoma and retinal detachment when the periocular skin, face, and scalp are involved.

In the past, cutis marmorata telangiectatica congenita (CMTC) has been confused with macrocephaly-capillary malformation syndrome that is usually associated with the involvement of the central nervous system (CNS).

General features in most patients

• Facial capillary malformation (PWS): Typically forehead and upper, but can see bilateral extension; usually present at birth.
  
• Leptomeningeal capillary-venous malformation in the brain and eye (with associated neurologic and ocular abnormalities): ~10% to 20% of patients with typical facial vascular lesions on the same side as the Parkes-Weber syndrome (PWS); “tram-track-like” calcifications on plain films from malformed vessels in the pia mater; cortical atrophy on MRI.

Roach classification

• Type I: Angiomas of face and leptomeninges, possible glaucoma.
  
• Type II: Only facial angioma, possible glaucoma.
  
• Type III: No cutaneous angioma, leptomeningeal angioma, usually no glaucoma.

No treatment presently for SWS.

MRI with gadolinium contrast to identify leptomeningeal vascular changes in children over 1 year; in infants under 1 year, electroencephalography (EEG) does not require anesthesia and may be more sensitive in screening for CNS involvement.

• Ophthalmology: Even in children with normal eye examinations, regular follow-up exams at 6 to 12 months may be indicated.
  
• Neurology: For neurodevelopmental evaluation and seizure management.
  
• Physical and occupational therapy: Evaluation and therapy for selected patients.
  
• Dermatology: Possible PDL treatment of PWS.
  
• Endocrinology: Screening and management of hypothyroidism and growth deficiency.
  
• Oral surgeon and dentist: Management of vascular lesions on the gingivae and oral mucosa.
  
• Plastic surgery: As needed for possible surgical intervention.

Depends upon the severity of leptomeningeal malformation and related cerebral and ocular complications. Normal brain MRI with contrast at 1 year helps exclude leptomeningeal lesions. Age of seizure onset and how well they can be controlled are important prognostic factors; most severe CNS involvement often stabilizes after the first decade.

Possible complications

• Neurologic:
  
  
  
  • Seizures: In 80% to 90% of patients with SWS; often the first noncutaneous symptom of SWS is observed by the first birthday.
    
  • Focal deficits, hemiparesis; hydrocephalus; developmental delay, learning disabilities; usually stable after age 10.

• Ocular:
  
  
  
  • Glaucoma in 30% to 70% of SWS patients in the first decade of life. Congenital in about half of the patients.
    
  • Visual field defects.
    
  • Vascular malformations of various components of the eye.

• Endocrine:
  
  
  
  • Hypothyroidism and growth hormone deficiency have been reported.

• Classic triad: Capillary malformation, venous malformation, and limb overgrowth usually in a lower extremity (bony and soft tissue hypertrophy); may also involve buttock and rarely head and neck; many may have lymphatic malformation intermingled with venous lesions.
  
• Other vascular findings: Increased risk of deep venous thrombosis or pulmonary embolism; risk of cellulitis and that of lymphedema are also increased.
  
• Musculoskeletal: Syndactyly, polydactyly, or oligodactyly risk also increased.
  
• Ophthalmologic, neurodevelopmental: If head and neck involved, then glaucoma risk is increased along with seizure and mental retardation.

Symptomatic treatment based on clinical abnormalities and complications.

• Vascular: Many patients do well with compression stockings/sleeves for venous, lymphatic issues, recurrent cellulitis; PDL for hemangiomas and/or PWSs for cosmetic concerns, though they are not as effective for deeper vascular abnormalities; sclerotherapy also for superficial lesions; surgical intervention of underlying vascular lesions is controversial; patients with KTS are at high risk for scarring and recurrence of vascular malformation in healed surgical sites; patients with severe symptoms/complications not responding to conservative therapy may benefit from low-dose oral sirolimus.
  
• General pediatrics: Appropriate antibiotic therapy and supportive therapies for cellulitis and thrombophlebitis; low-dose aspirin or other anticoagulants based on the severity of coagulopathy.
  
• Orthopedic surgery: Referral to address bony hypertrophy.
  
• GYN: Uterine arteriovenous malformations (AVMs) may be present in the lower uterine segment and affect pregnancy in affected females.

Skin

Vascular lesions (Kaposiform hemangioendothelioma, tufted angiomas, and occasionally lymphatic malformations); significant thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy (aka disseminated intravascular coagulation or DIC); vascular lesions may be clinically obvious or occult visceral lesions.

• Posterior fossa brain malformations (~1/3 of patients): Dandy-Walker malformation, agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, enlargement of the posterior fossa.
  
• Hemangiomas (>90% of patients): Large, segmental facial lesions.
  
• Arterial anomalies (~18%-50% of patients): Cerebrovascular anomalies, including arterial aneurysms, stenotic vessels, and persistent fetal vessels.
  
• Cardiac anomalies (~15%-20% of patients): Coarctation, aortic notch anomalies, and ventricular septal defects.
  
• Eye abnormalities (~6%-8% of patients): Microphthalmos, retinal vascular abnormalities, persistent fetal retinal vessels, optic nerve atrophy, iris hypertrophy, colobomas, optic nerve hypoplasia, amblyopia, cataracts, glaucoma, strabismus, “Morning glory” disk anomaly (congenital malformation in fundus): ectasia of posterior pole involving optic nerve; ocular involvement in 24% of patients. Patients with temporal or periorbital facial hemangiomas are more likely to have ocular involvement.
  
• Sternal cleft in ~20% of patients, a supraumbilical raphe in ~7% of patients, or both.

Major and minor criteria

• Definite PHACE syndrome: Facial hemangioma >5 cm plus 1 major or 2 minor criteria.
  
• Possible PHACE syndrome: Hemangioma of head or upper torso plus 1 major or 2 minor criteria, or 2 major criteria without hemangioma.