What is the Besinger Score?

Patient Presentation
The residents were discussing a 7-year-old female who was currently in the pediatric intensive care unit with muscle weakness. The resident taking care of her said, “The neurologists think she may have myasthenia gravis, but her autoantibodies are negative. Apparently this happens more with young kids. They are going to do a Tensilon® test this afternoon so I get to watch them do that. She’s having a lot of problems controlling her secretions so we’re monitoring her respiratory status closely.” One of the other residents asked about how she presented. “We’ll initially we thought this was Guillian-Barre, but once we got more history it didn’t seem to be an ascending paralysis, but was more generalized weakness, plus there was a history of her eyes being droopy when she would get sick. Plus this time when she got an ear infection and a bad cold, she had a lot of problems swallowing and parents thought she was really tired. Turns out she was really weak,” he recounted. The attending said that she had seen a Tensilon test performed when she was a resident, “I don’t remember if the patient had myasthenia or not, but I remember the neurology fellow trying to push the child’s eyes open to determine if weakness was improving with the Tensilon. I know there is a specific protocol for doing the test, plus I think there’s another specific test for monitoring patients. It’s been a long time since I looked up myasthenia though.”

Discussion
Myasthenia gravis (MG) is a rare disease in the pediatric population. The incidence depends on the population studied but is estimated at 1-9/1 million/year. It was first described by William Heinrich Erb in 1879. The cause is autoantibodies against components of the post-synaptic membrane of the neuromuscular junction, usually against the acetylcholine binding receptor (AChR).

It can occur at any age but is more common in the adult population. Juvenile patients (0-19 years) are divided into prepubertal (12 years) who have disease presentations similar to the adult population. In adults there are 5 grades: ocular symptoms, mild, moderate, severe and very severe.

MG symptoms include:

  • Ocular symptoms are common
    • Ptosis – uni- or bilateral, children may tilt head to see
    • Ophthalmoplegic facial weakness – lid twitch, strabismus
  • Facial/bulbar weakness
    • Masked facies
    • Chewing and swallowing problems
    • Speech problems
    • Coughing and coughing insufficiency
  • Respiratory symptoms
    • Respiratory insufficiency
  • Peripheral symptoms (proximal symmetrical weakness)
    • Exercise intolerance
    • Fatigability
    • Difficulty with climbing stairs, rising from seated position, personal hygiene
  • Worsening of symptoms with
    • Exercise
    • Fever or infection
    • Elevated temperature
    • Medication

Symptoms often improve with rest such as sleeping with improved symptoms at night or early in the day. Prepubertal children usually present with ocular symptoms (which can wax/wane) such as ptosis, blurred or double vision. Generalized muscle weakness is rare. Ocular symptoms are common and may precede the other generalized symptoms by 2-3 years or they may not develop.

MG can be confused with other entities such as Guillain-Barre or brain stem encephalitis. Evaluation includes a strong history and physical examination (note that the physical examination may be falsely normal as patients may be resting more before the appointment). Autoantibodies to AChR, muscle-specific kinase and Titin are often positive in adults but frequently negative in children particularly younger children. Nerve stimulation testing can also be helpful. Intravenous edrophonium or Tensilon testing is also used. Edrophonium inhibits acetylcholine esterase and therefore the acetylcholine is in contact with the AChR for longer. Therefore patient symptoms improve with the administration of the drug. This is only carried out in an intensive care setting as side effects include hypotension and bradycardia. Edrophonium testing can improve MG symptoms but can also be positive in a number of other conditions.

Treatment in children usually begins with pyridostigmine which is an acetylcholine esterase inhibitor. Immunomodulators and immunosuppressive medications are also sometimes used especially if pyridostigmine is not effective. Sometimes plasma exchange or intravenous immunoglobulin is used. Thymectomy improves many patient symptoms and potentially patient remissions. There is a higher remission rate using thymectomy within 1 year after symptom onset. Spontaneous remission is common in prepubertal children with ocular symptoms only.

A review of causes of ptosis can be found here.
A review of hypotonia in infants can be found here.
A review of muscle weakness can be found here.

Learning Point
Drs. Besinger, Toyka, Homberg, Heininger, Hohlfeld, and Fateh-Moghadam first proposed a score for clinical severity for MG patients in 1983. Since that time the scoring system has been further developed and validated and is called the Quantitative Myasthenia Gravis (QMG) test that can be reviewed here. Components currently include:

  • Ocular symptoms – double vision, ptosis
  • Facial/bulbar symptoms – eyelid closure, swallowing, speech
  • Muscle weakness – head lift, hand grip, arm lift, leg lift
  • Respiratory weakness – forced vital capacity

The Myasthenia Gravis Foundation of American also has other instruments such as activities of daily living and quality of life available here.

Questions for Further Discussion
1. What is the difference between hypotonia and muscle weakness?
2. What are indications for treating a patient in the intensive care setting?
3. What are transient neonatal myasthenia gravis and congenital myasthenic syndromes?

Related Cases

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 this topic: Myasthenia Gravis

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.

Besinger UA, Toyka KV, Homberg M, Heininger K, Hohlfeld R, Fateh-Moghadam A. Myasthenia gravis: long-term correlation of binding and bungarotoxin blocking antibodies against acetylcholine receptors with changes in disease severity. Neurology. 1983 Oct;33(10):1316-21.

Barnett C, Katzberg H, Nabavi M, Bril V. The quantitative myasthenia gravis score: comparison with clinical, electrophysiological, and laboratory markers. J Clin Neuromuscul Dis. 2012 Jun;13(4):201-5.

Liew WK, Kang PB. Update on juvenile myasthenia gravis. Curr Opin Pediatr. 2013 Dec;25(6):694-700.

Della Marina A, Trippe H, Lutz S, Schara U. Juvenile myasthenia gravis: recommendations for diagnostic approaches and treatment. Neuropediatrics. 2014 Apr;45(2):75-83.

Sanders DB, Wolfe GI, Benatar M, et.al. International consensus guidance for management of myasthenia gravis: Executive summary. Neurology. 2016 Jul 26;87(4):419-25.

Myasthenia Gravis Foundation of America. Clinical Overview of MG. Available from the Internet at: http://myasthenia.org/HealthProfessionals/ClinicalOverviewofMG.aspx(cited 12/12/17)

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

What Growth Charts Are Best?

Patient Presentation
An 86-day-old former 35 week gestation preterm male came to clinic with rhinorrhea and cough for 2 days. He was afebrile and was breastfeeding and urinating well. His sibling had similar symptoms. His mother said she brought him in saying, “because he is so little and was premature. I’m just more worried about him.” The past medical history showed that he was born prematurely with an appropriate gestational weight but had no respiratory distress or other complications. He took an extra day to learn about breastfeeding but was discharged home and had appropriate weight gain since then.

The pertinent physical exam showed his weight to be 4.62 kg and was tracking appropriately. His vital signs were normal HEENT showed moderate clear rhinorrhea and normal tympanic membranes. His lung examination was clear with no signs of increased work of breathing.

The diagnosis of of an upper respiratory tract infection was made and the parent was counseled. The intern also reminded the family that seasonal influenza vaccine is recommended for everyone in the household each year. When staffing the intern noted that the electronic medical record automatically used a premature growth chart to plot the infant’s growth. On the Fenton growth chart the infant’s weight was just above the 10% for 47 weeks. On the WHO chart his weight was 25% for adjusted age when plotted. “When do you change over to the regular growth chart?” he asked. The attending said that growth charts are really tools to help assess the child’s health so you should use the tool that best fits the problem you are trying to assess. “In this case, the child was premature but has quickly caught up to the regular growth chart and now is more than 40 weeks gestation. A regular growth chart should give you the best information from now on. The Fenton charts stop after a certain age and then the WHO charts are used. I don’t remember exactly when the switch over occurs though,” the attending replied.

Discussion
“The value of growth assessment is thus its principal utility as a key screening tool in order to assess children’s general well-being, to identify faltering and excessive growth, to evaluate maternal lactation performance and infant feeding practices, and to manage her children with medical conditions known to adversely affect growth,….” Thus having assessment tools is important. Growth charts are assessment tools measuring height/length, weight, head circumference and body mass index.

Some commonly used growth charts are:

  • WHO child growth chart standards
    • They were developed using long-term assessment of children in Brazil, Ghana, India, Norway, Oman and the United States. The children studied had to live in homes where the infants were mainly breastfed until 12 months of age, had no maternal smoking and lived in socioeconomic conditions favorable to growth. Therefore they are considered standards for optimal growth for children.
    • The WHO standards are currently the best charts available for children < 2 years of age, international populations that do not have more specific data for their geographical area, or potentially for immigrant children as these are international growth charts.
    • The WHO standards are also very good at identifying children with poor growth or excessive weight especially in the first 2 years of age. The WHO standards “…depict normal human growth under optimal environmental conditions and can be used to assess children everywhere, regardless of ethnicity, socioeconomic status and type of feeding.
    • Fetal growth charts were also released in 2017.
  • Centers for Disease Control (CDC)
    • The Centers for Disease Control (CDC) and Euro Growth Charts (below) are considered references which show the growth of healthy children in geographically defined areas.
    • The CDC charts are based on cross-sectional national data from students between 1976-1994.
    • The CDC recommends using the WHO charts for children 0-2 years of age, and then switching to the CDC charts for children in the United States after age 2.
  • Euro Growth Charts
    • They were developed from longitudinal data on children in 11 European countries between 1990-1993. Data was analyzed cross-sectionally.
  • Fenton Premature Infant Growth Charts
    • They were revised in 2013 based on population surveys from 1991-2007 in Australia, Canada, Germany, Italy, Scotland and the United States.
    • They are smoothed curves from 22-50 gestational weeks and match the WHO standards at 50 weeks gestational age.

Growth chart standards do change over time. One study that reviewed international growth charts from 1830 onward found that mean weight increased from 45 to 75 kg for males and from 40 to 60 kg for females.

Learning Point
Growth charts are common assessment tools in pediatric practice. Overall, one study stated “Biologically, it appears advantageous to use references that are as close to the child as possible, and to depict local growth in order to best mirror a child’s growth patterns with its immediate vicinity. … The use of growth references matched to the individual child eliminates known variation between children, thus enabling more precise and better decision for individuals.”

National growth charts are available for most North American, European and other nations as noted above. There are even different growth charts within some countries that look at geographical populations. For example among army recruits there is as much as a 6 cm height differences among different mountain regions in Switzerland. The “…[WHO] emphasizes the similarity in early childhood growth among diverse ethnic groups. In contrast to early childhood however growth in later childhood and adolescence differs between the different ethnic groups and nations.” One list of regional growth charts can be found here.

One study noted, “…there is rising evidence that it is the peer group of a young adolescent that exhibits significant influence on growth and final height.”

Growth charts are best used with at least 2 measurements to look at trends over time. More measurements providing more data is always helpful to have.

Questions for Further Discussion
1. What growth charts do you use commonly and why?
2. What genetic disorders have their own growth charts?
3. Where can other regional growth charts be found?

Related Cases

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: Common Cold, Birth Weight, and Premature Babies .

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.

Hermanussen M, Staub K, Assmann C, van Buuren S. Dilemmas in choosing and using growth charts. Pediatr Endocrinol Rev. 2012 Mar;9(3):650-6.

Ziegler EE, Nelson SE. The WHO growth standards: strengths and limitations. Curr Opin Clin Nutr Metab Care. 2012 May;15(3):298-302.

Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants.
BMC Pediatr. 2013 Apr 20;13:59.

de Onis M. 4.1 The WHO Child Growth Standards.
World Rev Nutr Diet. 2015;113:278-94.

Ziegler EE. 4.2 The CDC and Euro Growth Charts.
World Rev Nutr Diet. 2015;113:295-307.

Urquia ML, Sorbye IK, Wanigaratne S. Birth-weight charts and immigrant populations: A critical review.
Best Pract Res Clin Obstet Gynaecol. 2016 Apr;32:69-76.

Giuliani F, Cheikh Ismail L, Bertino E, Bhutta ZA, Ohuma EO, Rovelli I, Conde-Agudelo A, Villar J, Kennedy SH. Monitoring postnatal growth of preterm infants: present and future.
Am J Clin Nutr. 2016 Feb;103(2):635S-47S.

Kiserud T, Piaggio G, Carroli G, et.al. The World Health Organization Fetal Growth Charts: A Multinational Longitudinal Study of Ultrasound Biometric Measurements and Estimated Fetal Weight. PLoS Med. 2017 Jan 24;14(1):e1002220.

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

What is the Difference Between an Association and a Syndrome?

Patient Presentation
A resident in his continuity clinic was describing a newborn infant who had been born that morning that he was taking care of in the intensive care unit with probable VACTERL association. “Right now we know he has anal atresia and abnormal thumbs, but his spine also doesn’t look entirely normal. He doesn’t have an obvious heart murmur and so far he is breathing well. But we’re in the process of evaluating him,” he said. “Why did you call VACTERL an association? I thought it was a syndrome,” asked another intern. “I don’t really know the difference but it’s written down as an association,” he replied. The other residents in clinic and the attending also we’re not sure of the specific differences in the terminology and decided to look it up in some online references.

Discussion
VATER association was first described in the 1970s with additional congenital malformations being added to the association so it is most often called VACTERL association. It is a highly heterogeneous, overlapping condition estimated to occur in ~1/10,000-40,000 births. The cause is unknown. In animal models, some signaling pathway gene mutations have phenotypes of VACTERL association.

Experts suggest that patients having at least 2 components should be further evaluated (at least 3 for diagnosis) for VACTERL and other diseases in its differential diagnosis. There are more than 30 syndromes, mutations and diseases that have components of the malformations in VACTERL association. Alagille syndrome , CHARGE Syndrome, Blackfan-Diamond anemia, Holt-Oram syndrome, and Caudal regression syndrome are just a few examples.

All signs and symptoms can be obvious or extremely subtle. Some symptoms may not occur until years later or be surreptitious. Most patients do not have all of the components. Facial and brain malformations are not common with VACTERL association. Treatment depends on the specific malformations and their extensiveness. Surgical treatment is often necessary to manage one or more problems.

Components of the VACTERL association include:

  • Vertebral malformation
    • Occurs in 60-90% of patients
    • Usually segmentation defects, can occur in any vertebrae
    • Can also have rib anomalies and/or spinal curvature
    • Can also have tethered cord and/or similar neurological anomalies
    • May be diagnosed later in life after presenting with scoliosis or back pain
    • Initial evaluation: plain radiographs of the spine but patients may also need magnetic resonance imaging or computed tomography
  • Anorectal malformation
    • Occurs in 55-90% of patients considered by many geneticists as a “core” anomaly for this association
    • All types occur often with genitourinary anomalies. Incontinence or constipation are often problems for patients.
    • Initial evaluation: careful physical examination, cross-table radiographs, abdominal ultrasound for genitourinary anomalies
  • Cardiac malformations
    • Occurs in 40-80% of patients
    • All types occur from subtle anomalies to major malformations
    • Cardiovascular anomalies can also occur
    • Initial evaluation: Cardiac echocardiogram, electrocardiogram
  • Tracheo-esophageal fistula (TEF) with/without esophageal atresia
    • Occurs in 50-80% of patients,considered by many geneticists as a “core” anomaly for this association
    • All types but H-type TEF can be difficult to identify but patients may have choking or respiratory problems.
    • Initial evaluation: history showing increased amniotic fluid, unable to pass or having curling up of the nasogastric or orogastric tubing, or plain radiographs showing absent gastric bubble
  • Renal malformations
    • Occurs in 50-80% of patients
    • Many different types of renal anomalies occur and some patients may need renal transplantation.
    • Initial evaluation: renal ultrasound, other studies such as voiding cystourethrogram may be necessary.
  • Limb malformations
    • Occurs in 40-55% of patients
    • Classically radial anomalies are associated but other limb anomalies occur
    • Initial evaluation: physical examination and plain radiographs if an anomaly is suspected
  • Hydrocephalus
    • VACTERL with hydrocephalus (VACTERL-H) may or may not be a distinct condition.
    • Usually due to aqueductal stenosis
    • Initial evaluation: cranial ultrasound in infants
  • Single umbilical artery is frequently seen with VACTERL association

    Other evaluations:

    • Genetic evaluation for patient and potentially family members
    • Fanconi anemia testing
    • Complete blood count for other hematological conditions
    • Genetic testing – often to look for other conditions in the differential diagnosis as there is so much overlap

    Learning Point
    Many times commonly understood words are used in medicine without any loss of meaning. However sometimes more precise definitions are needed to communicate more specifically with improved accuracy.

    • Condition – “a usually defective state of health” such as a serious heart condition
    • Disease – “an impairment of the normal state of the living animal or plant body or one of its parts that interrupts or modifies the performance of the vital functions, is typically manifested by distinguishing signs and symptoms, and is a response to environmental factors (as malnutrition, industrial hazards, or climate), to specific infective agents (as worms, bacteria, or viruses), to inherent defects of the organism (as genetic anomalies), or to combinations of these factors”
    • Malformation – an abnormality in the formation of the body part or a faulty formation of the structure. It is an initial formational problem.
    • Deformation – an alteration in the form or shape of the body part after it is initially formed. It is a secondary problem. Amniotic band constriction is an example.
    • Associations – have more than 1 phenotypic features or are “…malformations that occur together more often than would be expected by chance…” and do not have evidence of a single unifying cause.
    • Syndromes – have more than 1 phenotypic feature or are malformations that occur together more than would be expected by chance that have with a single unifying cause or presumed cause.
    • Sequence – a consequence, result, or subsequent development (as of a disease). Pierre-Robin sequence is an example.

    Questions for Further Discussion
    1. If a patient has a single umbilical artery at birth, what should be done? A review can be found here.
    2. What are indications for a genetic evaluation?

    Related Cases

    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 and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Developmental Disabilities

    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.

    Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011 Aug 16;6:56.

    Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. Clinical geneticists’ views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec;158A(12):3087-100.

    Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 2014 Mar;164(3):451-7.e1.

    Merriam-Webster Online Medical Dictionary.
    Available from the Internet at:
    https://www.merriam-webster.com/medical
    https://www.merriam-webster.com/dictionary/deformation
    https://www.merriam-webster.com/dictionary/disease
    https://www.merriam-webster.com/dictionary/malformation
    https://www.merriam-webster.com/dictionary/syndrome
    https://www.merriam-webster.com/dictionary/sequence (cited 11/28/17)

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

  • Should I Worry About This Telangiectasia?

    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

    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