When Should a Child Be Admitted for a Burn?

Patient Presentation
A 15-month-old female was visiting her grandparents during the winter holidays. Her mother had a bucket of scalding water on the floor that she was cleaning with to get ready for a family party. The child had gotten up from her nap where she had been in an adjacent bedroom sleeping on a camping mattress placed onto the floor. The child placed her left hand into the bucket and immediately screamed. Her mother turned around and the grandmother came into the hallway at the same time. They gently wrapped her hand in some gauze and came to the emergency room at a regional children’s hospital.

The past medical history showed her to be healthy. She had received all of her health supervision visits and was current with her immunizations.

The social history revealed that the parents were married, both employed, and with an older sibling.
The grandparents had several young grandchildren who visited and so had installed stair gates, kitchen door latches, outlet covers and other safety measures in their home.

The review of systems was negative for other trauma.

The pertinent physical exam showed a scared child with normal vital signs and growth parameters. The dorsum of the left hand had a white/grey colored area that was non-blanching and non-painful of 1.5 cms that was surrounded by a white area that was painful and had also some blisters. The dorsum of the fingers also had areas that were white and other areas that were red with blisters. She also had 2 small irregular area of erythema on the palm of the hand and forearm that appeared to be consistent with splash marks.

The diagnosis of full-thickness and partial thickness burns was made and later confirmed by burn surgeons. She was admitted and patient underwent debridement and skin grafting. The surgeons discussed the case with the local child abuse expert informally and after reviewing the hospital records, the expert agreed that it was most likely an accidental burn. She was discharged 5 days after the injury and was doing well at a burn clinic visit 5 days later. Her care was transferred to another children’s hospital in her local community.

Discussion
It is estimated that 1.2 -2 million burn injuries occur in the US yearly with about 1/3 of those occurring in children. About 1000 deaths occur because yearly.

Most (80%) are because of contact with hot liquids or objects.

  • Scald injuries are most common cause of burns. They are caused by hot water, particularly hot bath water, which can be prevented by turning the hot water heater to below 120° F.
    Children will also pulls hot items off of a stove, or can be splattered by cooking grease. These can be prevented by cooking on back heating elements, turning pot handles to the side or back and by not having children in the kitchen if possible.

  • Flame injuries from candles, fireworks and house fires also are common. Prevention lies in not using candles or fireworks or in using them only with children not around. House fire burns can be prevented or decreased with working smoke detectors.
  • Contact injuries with clothes irons, hair curling iron, hot glue guns, etc. also occur. Again use of the items when not around children is recommended. Adults should promptly replace the cords and put the item up out of reach of children.
  • Electrical injuries from electric outlets and cords also occur. Prevention through outlet covers and minimizing the length of cord used is recommended.
  • Chemical burns also occur from contact or consumption of household cleaners, bleach and lye. Keeping products out of reach and/or locked up is recommended for prevention.

Initial management of burns depends on the history, physical examination and total body surface area (TBSA). Standard burn maps and tables help to determine the TBSA which changes with age. One general rule is that the size of the palm of the hand is 1% BSA. Second and third degree burns are ONLY counted toward the TBSA. The depth of the burn is also important.

  • First degree (superficial) burns – affects only the epidermis and heals in a few days without scarring. These present with redness and pain and blanch when touched. They are treated with emollients 2-3 times a day and pain relief.
  • Second degree (superficial- or deep- partial thickness) burns – affects the whole epidermis and part of the dermis. These present with redness, pain and blisters.
    • Superficial partial thickness burns will blanch if touched and heal in about 2 weeks with minimal scarring. Treatment is debridement, local wound care and pain relief.
      Blisters should be left intake if there is clear fluid, the entire blister is intact and the blister does not impede the range of motion of a joint. Otherwise the blisters should be debrided. Local wound care includes antibiotic ointment, non-stick dressings with an overlay of gauze that are changed twice a day. Soap and water can be used during dressing changes. Silvadene is not usually recommended for superficial partial thickness burns because it may inhibit wound healing.

    • Deep partial thickness burns often do not blanch to touch. They may have a whiter appearance and be less painful. They take 3-8 weeks to heal with scarring.
      They often require excision and skin grafting.
  • Third degree (full thickness) burns – affect the entire epidermis and dermis. They appear grey, white, brown or black and somewhat leathery. They are non-blanching and non-painful. These require excision and skin grafting and heal with scar formation.
    Silvadene is used in full thickness burns because its’ able to penetrate eschars.

Treatment for other injuries is also important such as smoke inhalation in house fires. Other specialty care may also be needed such as ophthalmological or dental care. All burn patients need fluid to maintain hydration particularly children. Child abuse and/or neglect may also be possibility with pediatric burns (~20%) particularly if there are burns in more than one location, burns are in different stages of health, or there is a particular pattern (glove and stocking submersion injury, circular burns from cigarettes). Immunization status should be discussed and tetanus toxoid given if not administered with the past 5 years.

Learning Point
An experience burn center suggests that patients should be considered for treatment at a burn center if they are or have:

  • > 10% TBSA affected
  • Burns to the face, hands, or perineum
  • Inhalation injuries
  • Electric burns
  • Child abuse
  • Associated trauma

Patient can be treated on an outpatient management if are or have:

  • < 15% TBSA affected
  • Not requiring fluid resuscitation
  • Able to take oral fluids
  • No serious perioral burns
  • No airway involvement or aspiration of hot liquids
  • No child abuse suspected
  • Family is able to monitor patient properly and is able to reliably return for clinic appointments

If in doubt, evaluation by a surgeon or telephone consultation with a local or regional burn unit about the proper management should be done.

Questions for Further Discussion
1. Where are your local and regional burn consultants located?
2. What are some of the long term burn care complications that primary care physicians may be needed to assist patients and families with?

Related Cases

    Symptom/Presentation
    Burns

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: Burns

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

To view images related to this topic check Google Images.

Pizano LR, Corallo JP, Davies J. Nonoperative management of pediatric burn injuries. J Craniofac Surg. 2008 Jul;19(4):877-81.

Feldmann ME, Evans J, O SJ. Early management of the burned pediatric hand. J Craniofac Surg. 2008 Jul;19(4):942-50

Kassira W, Namias N. Outpatient management of pediatric burns. J Craniofac Surg. 2008 Jul;19(4):1007-9.

O’Brien SP, Billmire DA.J Craniofac Surg. Prevention and management of outpatient pediatric burns. 2008 Jul;19(4):1034-9.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.

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

  • Where Can I Get Information About CAM?

    Patient Presentation
    A 19-year-old female came to clinic with a one month history of left breast pain. It occurred constantly but was worse at night or other times when she would not wear a bra. The pain was in the superior half of the breast and radiated to the axilla. There was no nipple tenderness or discharge, and the pain did not change with menses. She said that it was a 6-7 on a scale of 10. She denied trauma, sexual activity, stimulation of the breast or nipple, any medications or complementary or alternative medications.

    The past medical history showed menarche at age 12 year with regular periods at age 13 years.

    The family history was negative for any benign or malignant breast disease. There was some diabetes in older relatives.

    The review of systems showed no fevers, weight changes, sweating, skin changes, or masses.

    The pertinent physical exam revealed a patient with normal vital signs and growth parameters. Her left breast was larger than the right breast and was very painful in the top 1/2 of the breast. The pain radiated to the axilla approximately 1/3 of the way toward the back. She had no skin changes, or increase in warmth. No masses were palpable and there was no nipple discharge. There appeared to be no lymphedema of the breast, axilla or arm. The axilla had no palpable nodes. She had some anterior cervical shoddy and groin adenopathy but no other nodes or masses.

    The laboratory evaluation of a urine β HCG was negative.

    The radiologic evaluation of a breast ultrasound also was negative and showed only normal breast tissue.

    The diagnosis of mastodynia was made and the patient was instructed to use ibuprofen in anti-inflammatory dosing, to use a supportive bra and heat or cold as would provide her some relief.

    The patient’s clinical course over the next two weeks found the pain to increase and now involved the entire axilla and underside of her arm. It also involved 3/4 of the breast vertically. The rest of the examination was unchanged. She was referred to a general surgeon who could find no other reasons for the pain. The surgeon did recommend to try using primrose oil, Vitamin E and increasing the iodine in her diet as possible measure to improve the pain. She also recommended to limit caffeine as a possible adjuvant therapy. The primary care physician had not used these complementary medications and so used the National Center for Complementary and Alternative Medicine (NCCAM) at the National Institutes of Health and Memorial Sloan Kettering’s Herbal and Botanical Information Resource to learn more about these medications.

    Discussion
    Mastodynia or mastalgia (i.e. painful breast) can be a worrisome problem when it first presents as it may be the herald of problems such as breast cancer. However most mastodynia is associated with normal hormonal changes such as menstrual cycles, pregnancy, breastfeeding and menopause. Other non-cyclical causes of mastodynia include:

    • Breast
      • Breast cancer
      • Cooper ligament stretching
      • Cysts
      • Mastitis
      • Sclerosing periphlebitis of the breast veins
    • Skin
      • Dermatitis
      • Hidradenitis supprative
    • Musculoskeletal
      • Costochondritis
      • Fibromyalia and other pain syndromes
      • Localized or diffuse lateral chest-wall pain
      • Radicular pain from cervical spine
    • External
      • Pressure from brassiere
      • Trauma
    • Miscellaneous
      • Estrogen-containing topical or oral medications
      • Gallbladder disease
      • Ischemic heart disease

    When the pain does not resolve and a cause of the pain is not apparent, it can be especially frustrating for the patient and also the healthcare providers trying to provide relief for the patient.

    Learning Point
    Check for bold/italics and then delete this
    It is estimated that 50% of adult patients use complementary and alternative medications and therapy (CAM). Most do not reveal this information to their healthcare providers because they do not view it as CAM or don’t want their providers to know they are using it. Health care providers may also feel uncomfortable asking about CAM as they are less familiar with the vast range of the different medications and therapies, and their actual usage. Evidence supporting their efficicacy and potential side effects can be unavailable, contradictory, done in small studies or done in poorly designed studies. Adding to this is the problem that most of the herbal, botanical and other medications are not regulated therefore available preparations and dosages can be inconsistent.

    The American Academy of Pediatrics recommends partnering with families by seeking information and sharing it with families, evaluating the scientific merits of the therapeutic approaches, identifying risks or potential harmful effects, providing information and educating families on a range of therapies and their options, assisting in evaluating and monitoring therapeutic outcomes of CAM or other therapies, and during the conversations acknowledging the families’ perspective on the use of CAM and avoid becoming personally defensive.

    Healthcare providers do have quality information sources available through the Internet including:

    Questions for Further Discussion
    1. How often are your own patients using complementary and alternative medications and therapies?
    2. What information resources do you have locally for complementary and alternative medications and therapies?

    Related Cases

      Symptom/Presentation
      Pain

    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: Breast Diseases and Complementary and Alternative Medicine.

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

    To view images related to this topic check Google Images.

    Kessler JH. The effect of supraphysiologic levels of iodine on patients with cyclic mastalgia. Breast J. 2004 Jul-Aug;10(4):328-36.

    Santen RJ, Mansel R. Benign breast disorders. N Engl J Med. 2005 Jul 21;353(3):275-85.

    Memorial Sloan-Kettering Cancer Center. About Herbs, Botanicals and Other Products. Available from the Internet at http://www.mskcc.org/mskcc/html/11570.cfm (rev. 2009, cited 1/29/09).

    National Institutes of Health National Center for Complementary and Alternative Medicine. Available from the Internet at http://nccam.nih.gov/ (rev. 1/16/2009, cited 1/29/09).

    National Institues of Health Office of Dietary Supplements. Available from the Internet at http://ods.od.nih.gov/ (cited 1/29/09).

    American Academy of Pediatrics Policy Statement. Counseling Families Who Choose Complementary and Alternative Medicine for Their Child With Chronic Illness or Disability.Available from the Internet at http://aappolicy.aappublications.org/cgi/content/full/pediatrics%3b107/3/598 (rev. 5/1/2005, cited 1/29/09).

    American Academy of Pediatrics’ Clinical Report. The Use of Complementary and Alternative Medicine in Pediatrics. http://pediatrics.aappublications.org/cgi/content/full/122/6/1374 (rev. 12/6/2009, cited 1/29/09).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    6. Information technology to support patient care decisions and patient education is used.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    14. Knowledge of study designs and statistical methods to appraisal clinical studies and other information on diagnostic and therapeutic effectiveness is applied.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
    16. Learning of students and other health care professionals is facilitated.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Professionalism
    20. Respect, compassion, and integrity; a responsiveness to the needs of patients and society that supercedes self-interest; accountability to patients, society, and the profession; and a commitment to excellence and on-going professional development are demonstrated.
    22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.

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

  • Why is She Shaking?

    Patient Presentation
    A 2-month-old female came to clinic for her health maintenance visit. Her parents had no concerns, except they noticed that sometimes while sleeping she would suddenly shake. This began after her two-week health maintenance visit. The shaking would occur for 1-2 seconds, occasionally more than 1 shaking episode would occur over 1 minute. Her whole body seemed to shake, but she did not awaken and had no problems breathing. She had no episodes while she was awake. Developmentally her parents reported that she cooed, responded to light and sound, followed faces, would grab their fingers and would hold up her head while prone.

    The past medical history showed she was a term infant with no problems pre- or post-natally.

    The family history was negative for neurological disorders or genetic syndromes.

    The review of systems was negative.

    The pertinent physical exam showed her to have a social smile with growth parameters in the 10-50%. Her head circumference was 25% and tracking appropriately. Her examination was normal including her neurological examination.

    The diagnosis of benign infantile sleep myoclonus was made. Its benign nature was explained to the parents who were to continue to monitor her and to call if she had changes to the character or frequency of the episodes.

    Discussion
    Parents often come to a health care provider with concerns about abnormal movements or positioning by their infants. In healthy infants, many of these are episodes are caused by normal development (e.g. startle response) or are benign in nature (e.g. benign neonatal sleep myoclonus). Some herald the possible beginning of a lifelong problem (e.g. infantile spasms or seizures). The diagnosis of many of these episodes can be made by a good clinical history and physical examination.

    Myoclonus is a symptom and not a disease. It is the sudden, involuntary jerking of a muscle or group of muscles. A hiccup or “sleep starts” when a person is falling asleep are examples. The sudden muscle contractions are called positive myoclonus. Sudden muscle relaxation can also occur called negative myoclonus.

    Myoclonic jerks may occur singularly or in clusters and may have a pattern or none. Sometimes they occur due to sudden sensory input. The patient cannot control them. Simple myoclonus in healthy persons usually is benign. Sometimes myoclonus may be more persistent or so exaggerated that it can limit a person’s ability to do their normal activities. Persistent or exaggerated myoclonus may indicate a more serious underlying nervous system problem.

    Learning Point
    Common causes of abnormal movements or positioning in infants include:

    • Benign neonatal sleep myoclonus
      • Cause – idiopathic
      • Description – focal or multifocal myoclonic jerks, that restraint does not stop, occurs only during sleep, child is otherwise healthy
      • Age onset – hours of life to one month
      • Age resolution – < or = 6 months
      • Maneuvers to provoke – may increase with gentle stimulation
      • Maneuver to stop – awakening from sleep
      • Duration of movements – 2-3 seconds with clusters of 15-60 minutes
      • Family history – may or may not have a family history
      • Evaluation – clinical diagnosis, EEG is normal during sleep
    • Startle response
      • Cause – normal arousal response
      • Description – sudden extension of arms/legs that are brought to midline
      • Age onset – birth
      • Age resolution – lifetime
      • Maneuvers to provoke – sudden sensory input (e.g. loud noise, pain)
      • Maneuver to stop – none
      • Duration of movements – seconds
      • Family history – none
      • Evaluation – clinical diagnosis
    • Jitteriness
      • Cause – idiopathic
      • Description – rapid movements that are symmetrical, may involve the jaw
      • Age onset – first few days of life to 2 months
      • Age resolution – < or = 6 months
      • Maneuvers to provoke – stimulation
      • Maneuver to stop – gentle flexion of a limb
      • Duration of movements – variable
      • Family history – no
      • Evaluation – clinical diagnosis but rule out a metabolic cause
    • Seizures
      • Cause – abnormal electrical activity in the central nervous system
      • Description – rhythmic movements, often asymmetric with altered consciousness
      • Age onset – any age
      • Age resolution – depends
      • Maneuvers to provoke – none
      • Maneuver to stop – none
      • Duration of movements – variable
      • Family history – may or may not have a family history
      • Evaluation – EEG ideally during the episode
    • Benign familial neonatal convulsions
      • Cause – abnormal electrical activity in the central nervous system
      • Description – tonic-clonic movements, eye deviation
      • Age onset – 1-4 days
      • Age resolution – < 12 months, usually in first 6 months
      • Maneuvers to provoke – none
      • Maneuver to stop – none
      • Duration of movements – usually minutes, usually occurs many times/day
      • Family history – yes. This is an autosomal dominant condition
      • Evaluation – clinical, EEG possibly, genetic testing possibly
    • Infantile spasms
      • Cause – abnormal electrical activity in the central nervous system
      • Description – clustered myoclonic jerks occurring in clusters
      • Age onset – 3-15 months, mean age 5 months
      • Age resolution – < 2 years but may evolve into other seizures
      • Maneuvers to provoke – transition between sleep and wakening
      • Maneuver to stop – none
      • Duration of movements – seconds with clusters of 15-60 minutes
      • Family history – no
      • Evaluation – EEG shows hypsarhythmia
    • Sandifer syndrome
      • Cause – gastroesophageal reflux
      • Description – dystonic posturing of the head and neck, possible arching of the back, irritability, possible emesis
      • Age onset – 3 weeks to years
      • Age resolution – when gastroesophageal reflux is controlled
      • Maneuvers to provoke – possibly related to feeding
      • Maneuver to stop – none
      • Duration of movements – 20 to 30 minute clusters
      • Family history – none
      • Evaluation – empiric treatment for gastroesophageal reflux, pH probe
    • Paroxysmal torticollis
      • Cause – idiopathic
      • Description – head and trunk twisting, often to both sides, may or may not have pallor, sweating and vomiting
      • Age onset – 1 week to 3 years
      • Age resolution – 5 years
      • Maneuvers to provoke – none
      • Maneuver to stop – none
      • Duration of movements – hours to days with several episodes/year
      • Family history – possible migraine history
      • Evaluation – clinical diagnosis
    • Shuddering
      • Cause – idiopathic
      • Description – “like cold water is being poured on you”
      • Age onset – months to years
      • Age resolution – late childhood
      • Maneuvers to provoke – excitement
      • Maneuver to stop – none
      • Duration of movements – 2-3 seconds
      • Family history – possible history of tremor
      • Evaluation – clinical diagnosis
    • Spasmus nutans
      • Cause – idiopathic
      • Description – head tilt, head bobbling and disconjugate nystagmus
      • Age onset – 6-36 months with a mean of 8 months
      • Age resolution – < 2 years
      • Maneuvers to provoke – none
      • Maneuver to stop – none
      • Family history – none
      • Evaluation – clinical diagnosis, but possible evaluation for a central nervous system tumor

    Questions for Further Discussion
    1. In a neonate with jitteriness when should maternal drug abuse be suspected?
    2. What are indications for a neurological consultation?

    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: Movement Disorders and Neuromuscular Disorders.

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

    To view images related to this topic check Google Images.

    Mathews K. Twitchy Babies. Lecture Notes. University of Iowa. April 2001.

    Pranzatelli MR. Myoclonus in childhood. Semin Pediatr Neurol. 2003 Mar;10(1):41-51.

    Meinck HM. Startle and its disorders. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):357-64.

    Borg M. Symptomatic myoclonus. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):309-18.

    National Institutes of Neurological Diseases and Stroke. Myoclonus Fact Sheet. National Institutes of Health. Available from the Internet at http://www.ninds.nih.gov/disorders/myoclonus/detail_myoclonus.htm (rev. 12/7/2007, cited 1/27/2009).

    National Institutes of Neurological Diseases and Stroke. Motor Neuron Diseases Fact Sheet. National Institutes of Health. Available from the Internet at http://www.ninds.nih.gov/disorders/motor_neuron_diseases/detail_motor_neuron_diseases.htm (rev. 09/09/2008, cited 1/27/2009).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    8. Health care services aimed at preventing health problems or maintaining health are provided.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

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

  • What Are The Clinical Characteristics of Hyper IgE Syndrome?

    Patient Presentation
    An 18-month-old female came to clinic with a history of ‘bumps’ on her legs for ~5 weeks. The lesions had increased in number and in size but had not caused any problems with pain, movement, or playing. Recently, one lesion on the left knee had become slightly red. She was otherwise well.

    The past medical history showed atopic dermatitis, one ear infection several months ago, and intermittent upper respiratory tract infections.

    The family history was negative for any rheumatological disease including Sjörgren’s syndrome, systemic lupus erythematosus and sarcoidosis. There was no cancer, or bone problems. There was glaucoma in older paternal relatives.

    The review of systems was negative for any weight loss, night sweating, fevers, chills, rashes, eye changes, other masses or intercurrent illnesses.

    The pertinent physical exam showed a smiley female with growth parameters in the 50-90% and appropriate weight gain since a preceding visit. She was afebrile and the rest of her vital signs were normal. Abdominal examination showed normal liver and spleen size with no masses She had some shoddy anterior cervical and inguinal adenopathy that were all less than 0.5 cm. Skin examination showed a normal angle of nail beds and no changes in the umbilicus. Her skin was generally dry without excoriation. On the left anterior knee was a 2 cm slightly red mass that was mobile, non tender and not warm. The right anterior knee lateral to the insertion of the patella had a 1.5 cm mass that had similar characteristics. The right calf in the center of the bodies of the gastrocnemius muscle and media/anterior muscle group had a 0.5 cm mass that was difficult to palpate between the muscle bodies. There was normal range of motion in all joints.

    The differential diagnosis at this time was extensive so an initial evaluation was begun. The radiologic evaluation with an ultrasound found a homogenous mass without defining characteristics for a tumor nor abscess.

    The laboratory evaluation included a complete blood count, erythrocyte sedimentation rate, C-reactive protein, lactate dehydrogenase, uric acid and rheumatoid factor which all were normal. Quantitative immunoglobulins were also sent after a telephone discussion with a rheumatologist. All were normal with the exception of the IgE which was 425 IU/ml (normal up to 60) that was reported 3 days later.

    The diagnosis of possible hyperimmunoglobulin E syndrome was made.

    The patient’s clinical course simultaneously showed her re-presenting to her pediatrician because of a sudden increase in the size, warmth and tenderness of the lesions over her knees, but without a fever. The patient was taken to the operating room for an incision and drainage of carbuncles/abscesses that were ~5 cm bilaterally. Staphylococcus aureus that was sensitive to clindamycin was cultured. She did well on oral antibiotics and was discharged home with follow-up with her pediatrician and a referral to an immunologist for further evaluation of a possible immunodeficiency.

    Case Image

    Figure 74 – Transverse ultrasound image of the left calf
    just inferior to the patella shows a well circumscribed, hypoechoic
    lesion in the sucutaneous tissues that is hypervascular in nature.
    Differential diagnosis included abscess versus involuting hemangioma.

    Discussion
    Children with immunodeficiencies can present in many ways including failure to thrive, weight loss, poor weight gain, diarrhea, cough, recurrent infections, unusual infection organisms, or unusual infection organ locations. There is no absolute indicator as to when a child should be evaluated for a potential immune problem. For a review of possible indications for an immunological workup and what evaluation to consider, please review “What Should I Order for An Immune Workup?”

    Although the numbers are debated there are more than 80 primary immunodeficiencies. Some of the common primary immunodeficiencies are listed below along with their genetics transmission if known.

    • B-cell differentiation
      • Common variable immunodeficiency - genetics are undetermined
      • Selective IgA deficiency
      • X-linked agammaglobulinemia or Bruton’s agammaglobulinemia – X-linked
    • T-cell defects and combined B-cell and T-cell defects
      • Ataxia-telangiectasia – autosomal recessive
      • DiGeorge syndrome – autosomal dominant or spontaneous
      • Severe combined immunodeficiency – X-linked
        • T-cell deficient, B-cell competent or deficient – autosomal recessive
      • Wiskott-Aldrich syndrome – X-linked
      • X-linked hyper IgM - X-linked
    • Complement deficiencies – autosomal recessive, autosomal dominant, or X-linked
    • Phagocytic disorders
      • Chronic granulomatous disease – X-linked or autosomal recessive

    Learning Point
    Hyperimmunoglobulin E syndrome (Hyper IgE syndrome) is a primary immunodeficiency that is idiopathic. Some genetic linkages have been demonstrated in some families. Neutrophil chemotaxis and oxidative burst reaction problems have been noted as well as qualitative T-cell and B-cell abnormalities. It is sometimes referred to as Job Syndrome from a reference in the bible to the Prophet Job’s being afflicted by God with ulcers, boils, painful sores, grievous botch and/or other descriptions of severe skin diseases depending on the reference.

    The clinical syndrome has recurrent abscess formation, severe dermatitis, respiratory tract infections and very high titres of IgE.

    The skin involvement is usually quite severe and commonly occurs within several weeks of birth and is eczema like. Furuncles, carbuncles and cellulitis also occur. The abscesses are “cold” abscesses and are pathognomic to hyper-IgE syndrome but are not essential to the diagnosis. Cold abscesses are large masses and are not tender, and not associated with systemic symptoms such as fever. Staphylococcus aureus is grown from cold abscesses. Cutaneous candidiasis and thrush also occur. Invasive fungal infections also can occur.

    Respiratory infections again are recurrent and severe usually caused by Staphylococcus aureus. Pneumonias are frequently complicated and cause bronchiectasis, bronchopleural fistulae and pneumatocoeles.

    Sino-pulmonary and bone infections are common. Common organisms are Staphylococcus but opportunistic infections also occur with Pneumocystis carinii and Norcardia.

    Skeletal abnormalities include osteopenia and increased fractures. Patients also commonly have retained primary dentitia. Facial abnormalities usually are identified by age 16 years with prominent foreheads, wide base to the nose, and a wide outer-canthal distance. Craniosynostosis and midline facial defects have been reported.

    Treatment is with meticulous skin care, prophylactic antibiotics, and prompt treatment for infections. Various immunotherapies can also be tried.

    Questions for Further Discussion
    1. What is the differential diagnosis of masses located around the knees?

    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: Immune System and Disorders

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

    To view images related to this topic check Google Images.

    Erlewyn-Lajeunesse MD. Hyperimmunoglobulin-E syndrome with recurrent infection: a review of current opinion and treatment. Pediatr Allergy Immunol. 2000 Aug;11(3):133-41.

    Sullivan KE. Primary care and primary immunodeficiencies. Am Fam Physician. 2003 Nov 15;68(10):1919, 19.

    DeWitt CA, Bishop AB, Buescher LS, Stone SP. Hyperimmunoglobulin E syndrome: two cases and a review of the literature. J Am Acad Dermatol. 2006 May;54(5):855-65.

    Jyonouchi H. Hyperimmunoglobulinemia E (Job) Syndrome. eMedicine. Available from the Internet at http://emedicine.medscape.com/article/886988-overview (rev. 5/21/2007, cited 1/9/09).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Systems Based Practice
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.

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