Sturge-Weber syndrome: A review

• Background and Design.— Anecdotal reports and clinical observations have suggested that the response of port-wine stains to treatment with the pulsed dye laser is variable and dependent on the anatomical location of the lesion. To investigate anatomical variation in response to treatment, a retrospective study of 259 adults and children with port-wine stains of the head and neck treated with the pulsed dye laser was undertaken. Evaluation was performed by comparing simultaneously projected pretreatment and completiontreatment photographs. Anatomical differences in response were evaluated in three ways: (1) by anatomical subdivision of the head and neck into regions, (2) by dermatomal distribution, and (3) by response for midline lesions. The head and neck was subdivided into eight anatomical regions, which were independently evaluated for response. In addition, response for individual dermatomes and for midline lesions was evaluated. Response in all cases was assessed by determining the percentage of lightening from 0% to 100% (where 100% represents complete response) at the completion of treatment. Response grades were also assigned, using grades poor (0% to 25% lightening), fair (26% to 50% lightening), good (51% to 75% lightening), or excellent (76% to 100% lightening). Results.— One hundred thirty-seven adults and 122 children were included in the study. Evaluation by subdivision of the head and neck into regions revealed that in adults and children the centrofacial regions (medial aspect of the cheek, upper cutaneous lip, and nose) responded less favorably than the other grouped regions (periorbital, forehead/temple, lateral aspect of the cheek, neck, and chin); the centrofacial regions showed a good response (mean lightening, 70.7%), while the other grouped regions of the head and neck showed an excellent response (mean lightening, 82.3%). Evaluation by dermatomal distribution revealed that dermatome V 2 showed a good response (mean lightening of 73.8%), while combined dermatomes V 1 , V 3 , and C 2 /C 3 showed an excellent response (mean lightening of 82.4%). Evaluation of midline lesions revealed excellent responses in adults and children (mean lightening, 92.4%). Conclusions.— Port-wine stains of the head and neck in adults and children demonstrate differences in response to treatment with the pulsed dye laser according to their anatomical location. Centrofacial lesions and lesions involving dermatome V 2 in adults and children respond less favorably than lesions located elsewhere on the head and neck. Midline lesions respond very favorably in adults and children. ( Arch Dermatol. 1993;129:182-188)

Anatomical differences of port-wine stains in response to treatment with the pulsed dye laser.

Data were obtained on 171 individuals with Sturge-Weber syndrome via questionnaire and medical records. The age of the study group ranged from 2 months to 59 years; the median was 8 years. In addition to the facial location of port-wine stains in the areas of the trigeminal dermatomes present in 170 patients, 45% also had extracranial port-wine stains over the torso and/or extremities, and 17% had other vascular or pigmentary lesions. Seizures were present in 80% of all patients (87% of those with bilateral and 71% of those with unilateral port-wine stains); in all but one case, seizures were associated with port-wine stains in V1 alone or V1 and V2 trigeminal dermatomes location. The age of onset of seizures ranged from birth to 23 years; 75% had onset of seizures before 1 year of age; these children had an 83% incidence of developmental and academic problems. Fifty-eight percent showed early developmental delay and required special education classes. The rate of retardation showed a decreasing tendency with increasing age of onset of seizures; of the children without seizures, only 6% had developmental delay and 11% required special education classes. Glaucoma was present in 48% of patients (67% unilateral and 33% bilateral). Of all patients with glaucoma, 92% had port-wine stains in both V1 and V2 dermatomes and 8% only in V1. The laterality of glaucoma did not correspond to the trigeminal distribution of the port-wine stains in all instances. Glaucoma was diagnosed during the 1st year of life in 61% and by 5 years in 72%; one patient did not have onset of symptoms until 38 years. The results of our data can serve as a guide for estimating relative risk figures for seizures, glaucoma, and mental retardation in children with Sturge-Weber syndrome.

Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children.

Naevi and Other Developmental Defects

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other neurologic complications including mental retardation, and glaucoma. Only limited information about long-term outcome, including the societal integration of adult patients, is available in the literature. Data on 52 adults with SWS, ages 18-63 years, ascertained through the Sturge-Weber Foundation, were obtained via written questionnaires, telephone interviews, and reviews of medical records. The distribution of port-wine stains (cranial 98%, extracranial 52%) and the prevalences of glaucoma (60%), seizures (83%), neurologic deficit (65%), and other complications were established. The age of onset of glaucoma (0-41 years), the age of onset of seizures (0-23 years), and the correlation between the distribution of port-wine stains and the prevalence of seizures was identified. The relationship between the age of onset of seizures and seizure control was established. In those with and without seizures, the prevalences of developmental delay (43% vs. 0%), emotional and behavior problems (85% vs. 58%), special education requirements (71% vs. 0%), and employability (46% vs. 78%) were analyzed. Overall, 39% were financially self-sufficient, and 55% were or could be married. Ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a cafe-au-lait spot, and a "birthmark" were found in 1 child each. The results of this study can be used for genetic counseling in Sturge-Weber syndrome.

Outcome of Sturge-Weber syndrome in 52 adults

Of 310 patients with port-wine stains, 68% had more than one dermatome involved; 85% had unilateral and 15% had a bilateral distribution of their port-wine stain. At the time of examination, 8% of all patients with trigeminal port-wine stains had evidence of eye and/or central nervous system (CNS) involvement. Extensive involvement, with port-wine stain over the trunk and extremities as well as the head and neck, was observed in 12%. Patients who did not have port-wine stains on the areas served by branches V1 and V2 of the trigeminal nerve had no signs or symptoms of eye and/or CNS involvement. Port-wine stains of the eyelids, bilateral distribution of the birthmark, and unilateral port-wine stains involving all three branches of the trigeminal nerve were associated with a significantly higher likelihood of having eye and/or CNS complications. Twenty-four percent of those with bilateral trigeminal nerve port-wine stains had eye and/or CNS involvement compared with 6% of those with unilateral lesions. All those who had eye and/or CNS complications had port-wine stain involvement of the eyelids; in 91% both upper and lower eyelids were involved, whereas in 9% only the lower eyelid was involved. None of those with upper eyelid port-wine stains alone had eye and/or CNS complications. In addition, 3 (75%) of the 4 subjects with seizures alone had bilateral port-wine stain involvement. A third group, these with unilateral V1, V2, and V3 port-wine stains, had eye and/or CNS complications in 3 (19%) of 16 subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Location of Port-Wine Stains and the Likelihood of Ophthalmic and/or Central Nervous System Complications

A 15-year-old female with no significant past medical history presented to the emergency department with 1 day of substernal and pleuritic chest pain, chills, cough, and hematuria. She also had swelling of the face and ankles that resolved by presentation. She was found to have elevated troponin and brain natriuretic peptide during initial workup. Electrocardiogram was normal, but there were significant pleural effusions on chest x-ray. She was strep positive and had blood pressure up to 150/90, prompting admission for cardiac monitoring and cardiology consultation. Blood pressure decreased down to 125/72 without intervention. She was afebrile with unlabored breathing and normal saturations. She was clear to auscultation bilaterally, with no abdominal distension or hepatosplenomegaly, and edema was not evident on exam. There was mild erythema to the bilateral tonsillar pillars. Initial considerations included viral myocarditis, pericarditis, and atypical nephritic syndrome. Workup revealed elevated antistreptolysin antibodies, low C3 complement, negative antineutrophil cytoplasmic antibodies, and negative flu testing. Renal sonography was unremarkable. Cardiology recommended echocardiography, which confirmed pleural effusions but revealed no cardiac abnormalities. Urinalysis revealed hematuria and mild proteinuria. Diagnosis was found to be post-streptococcal glomerulonephritis complicated by fluid overload and left ventricular strain secondary to hypertensive emergency. Post-streptococcal glomerulonephritis is the most common cause of acute glomerulonephritis in children. The mechanism of disease is a proliferation and inflammation of the renal glomeruli secondary to immunologic injury, with deposition of immune complexes, neutrophils, macrophages, and C3 after complement activation. This leads to hematuria, proteinuria, and fluid overload. Edema is present in 65%–90% of patients, progressing to pulmonary involvement in severe cases. Cardiac dysfunction secondary to fluid overload is a potentially fatal outcome in the acute setting. Physicians should consider post-streptococcal glomerulonephritis for patients presenting with hypertension, cardiac/pulmonary pathology, or symptoms of acute heart failure in the context of strep infection.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8777365

B Tallman

Papers

Location of Port-Wine Stains and the Likelihood of Ophthalmic and/or Central Nervous System Complications

A 15-year-old with chest pain: An unexpected etiology