How Common are Aortic Aneurysms?

Patient Presentation
A 9-month-old female came to clinic for her health maintenance examination. The father had no concerns but wanted the pediatrician to know that the mother had recently been diagnosed with some kind of aorta problem after her brother had been diagnosed with a similar problem. He didn’t know more details as both of them were currently being evaluated. “My brother-in-law had some chest pain and it turned out that wasn’t a problem, but in the emergency room they found this aorta problem,” the father offered. The past medical history was non-contributory. The family history was positive for heart disease, diabetes, and stroke.

The pertinent physical exam showed a healthy female with normal growth parameters and vital signs. Her examination was normal.

The diagnosis of a healthy female was made. “I don’t know a lot about aorta problems as they don’t occur much in pediatrics. The cardiologists and other specialists usually take care of those patients. But once we have a better idea about your wife and her brother and what is occurring in them, then we can decide what to do about your daughter and if we need to do anything,” the pediatrician counseled.

Discussion
Aortic root dilatation or thoracic aortic aneurysm occurs in 6:100,000 individuals > 50 years of age. It is due to aging, hypertension, hypercholesterolemia, and smoking. Tertiary syphilis was a cause in the preantibiotic era.
Pediatric aneurysms are very uncommon but the exact prevalence is different due to the various causes. Aneurysms are due to genetic disorders, congenital anomalies or post-surgical repair. In pediatric patients with sudden cardiac deaths, 5.4% are due to ruptured thoracic aortic aneurysms.

Learning Point
Some causes of pediatric aneurysms include:

  • Familial thoracic aneurysm and dissection
    • Autosomal dominant with variable penetrance?
    • This is a group of various related diseases and overall is probably the most common cause of pediatric aneurysms
    • Many (~20%) patients with aortic dissection also have a first-degree relative without a known syndrome
    • Common problems:
      • Various problems depending on the individual
      • Aortic root problems are common
  • Ehler-Danlos syndrome (vascular, vEDS)
    • Autosomal dominant, 1:250,000 prevalence
    • Type 3 procollagen COL3A1 gene mutation
    • Common problems:
      • Thin skin with visible veins, facial features with thin nose and lips, prominent ears, tight skin on face
      • Spontaneous rupture of vessels and organs which can occur without dilatation
  • Loeys-Dietz syndrome
    • Transforming growth factor genes
    • Common problems:
      • Facial dysmorphisms with cleft palate, hypertelorism, craniosynostosis
      • Translucent skin, joint laxity
      • Rupture of vessels and organs, aortic root aneurysms are common
  • Marfan syndrome
    • Autosomal dominant, 4-6:100,000 prevalence
    • Fibrillin-1 gene mutation
    • Common problems:
      • Aortic root dilatation and dissection, rupture
      • Mitral valve prolapse
  • Turner syndrome
    • 1:2000-5000 women prevalence
    • Chromosome X monosomy
    • Common problems:
      • Web neck, short stature, lymphedema
      • Bicuspid aortic valve, partial anomalous pulmonary venous return
      • Aortic dissection
  • Other causes
    • Alagille syndrome
    • Arterial tortuosity syndrome
    • Congenital heart disease especially Coarctation of the Aorta, Tetrology of Fallot
    • Cutis laxa
    • Kawasaki disease, atypical
    • PHACE association
    • Polycystic kidney disease, autosomal dominant
    • Spritzen-Goldberg syndrome

Questions for Further Discussion
1. How common is coarctation of the aorta? A review can be found here

2. How are genetic disorders classified? A review can be found here
3. What are indications for a cardiology 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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Aortic Aneurysm and Aneurysms.

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.

Halushka MK. Single gene disorders of the aortic wall. Cardiovasc Pathol. 2012;21(4):240-244. doi:10.1016/j.carpath.2011.09.004

Elefteriades JA, Pomianowski P. Practical genetics of thoracic aortic aneurysm. Prog Cardiovasc Dis. 2013;56(1):57-67. doi:10.1016/j.pcad.2013.06.002

Deshpande S, Alazraki A, Khoshnam N, et al. Four new cases of pediatric thoracic aortic aneurysm (TAA) with review of the molecular genetic basis, utilizing the newly published consensus nomenclature. Cardiovasc Pathol. 2017;31:34-40. doi:10.1016/j.carpath.2017.07.005

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

Date </

When Should Cutis Aplasia be Worked Up?

Patient Presentation
A full-term female infant was born to a 26-year-old married female. The prenatal and natal history were non-contributory. The family history was negative for fetal death, early infant death, genetic problems or syndromes.

The pertinent physical exam revealed a pink infant with a lusty cry. Weight was 3.389 kg (75%), length 48 cm (25%) and head circumference of 34 cm (50%). Her examination was normal except for a 1 cm round lesion on the left parietal area that was not mid-line. It appeared like a healing scar without any underlying defects palpated. There were no differences in the hair texture or scalp pattern in the adjacent areas. There were no other skin lesions than salmon patches above both eyes.

The diagnosis of a healthy term infant with cutis aplasia was made. The family was quite concerned and as it was less expensive and more convenient than subspecialty consultation, a radiologic evaluation using ultrasound of the scalp and head was performed and showed no underlying tissue defects. The patient was followed and at 2 years of age the lesion was present but small and less noticeable to the family. It did not cause any problems for the child.

Discussion
Aplasia cutis congenita (aka cutis aplasia, CA) is an uncommon dermal defect that is usually noted at birth or soon after birth. A variable amount of dermal tissue is absent. It is usually an isolated defect. The actual causes are unknown but genetics, developmental and destructive forces are logically the cause. Developmental forces do not allow the appropriate formation and closure of the skin (example would be a syndrome) and destructive forces (such as amniotic bands) harm the tissue so that it is disrupted. On physical examination CA may look like a small hypertrophic or atrophic scar. It can also be covered or uncovered (if covered there may be associated fluid or blood), have ulcerations, erosions or blisters of the skin which can involve the deeper tissues including having bony abnormalities in up to 15-30% of patients. Scalp lesions are very common.

Some other associated syndromes include Adams-Oliver syndrome (e.g. limb defects, cardiovascular and central nervous system abnormalities), Bart Syndrome (e.g. gastrointestinal problems including oral ulceration and pylorus atresia, head abnormalities), fetus papyracesus (e.g. associated with demise of fetal twin, skin defects, limb defects), amniotic band sequence, and congenital Volkmann ischemic contractures.

Learning Point
CA has an estimated incidence of 3:10,000 live births. As CA is relatively rare and each person unique, there is not a standard evaluation and treatment recommendations. However there are case series which show some lesions may be more likely to have associated underlying defects. A thorough physical examination may show other lesions and/or congenital defects that warrant additional evaluation and treatment.

In one series patients were more likely to have an underlying defect if they “…include the hair collar sign [longer hair around the lesion], midline vertex location, size greater than 5 cm, vascular stains and nodules. The anatomic site appears to be more important than the type of [CA] (membranous as opposed to nonmembranous) in predicting underlying bony defects, but in cases with neural tube defects, the presence of a membranous lesion was a significant predictor.”

Another state-of-the-art report notes that patients again are more likely to have an underlying defect if it is located on the body, if on the scalp is located at the vertex or midline, is stellate as opposed to round or oval, is non-membranous and is associated with other congenital anomalies.

Treatment again will depend on the underlying problems. Neonatology, dermatology, neurosurgery and plastic surgery may all play a role in the treatment of CA.

Questions for Further Discussion
1. What are common skin lesions in newborns?
2. What would be skin lesions in newborns that would be concerning for possible underlying pathology?
3. What causes hair loss? 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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Skin Diseases and Birth Defect.

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.

Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eichenfield LF. Bullous aplasia cutis congenita. J Am Acad Dermatol. 2003;48(5 Suppl):S95-98. doi:10.1067/mjd.2003.150.

Humphrey SR, Hu X, Adamson K, Schaus A, Jensen JN, Drolet B. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita. J Perinatol. 2018;38(2):110-117. doi:10.1038/jp.2017.142.

Patel DP, Castelo-Soccio L, Yan AC. Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. Pediatr Dermatol. 2018;35(1):e59-e61. doi:10.1111/pde.13340.

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

What is a Lipschultz Ulcer?

Patient Presentation
A 12-year-old female came to the emergency room with painful urination for 2 days. The pain was increasing in intensity and was persistent. It was worse with urination. Her mother had seen a “red spot” in her vaginal area and they had tried to apply petroleum jelly and use acetaminophen without much relief. She had a temperature of 100.2°F and was more tired.

The past medical history was negative for any gynecological problems or urinary tract infections. She also denied any sexual contact or abuse. She denied any trauma, chemical irritant contacts or new soaps/lotions/etc. She had recently recovered from COVID-19, and denied any other illnesses. She had no systemic illnesses and the family history was negative for any autoimmune problems other than Type 2 diabetes. The review of systems was otherwise negative.

The pertinent physical exam revealed overall, a well-appearing female who was in some discomfort. Her vital signs and growth parameters were normal.
Her general physical examination was normal and her genital examination showed ulcerated lesions on the labial minora that were mirror images. They were about 8-12 mm in size and were deeply erythematous with “punched out” edge. There was no vaginal discharge and the hymen appeared intact. The perineum and anus were normal.

The laboratory evaluation included a urinalysis which was normal. The diagnosis of acute labial ulcerations was made. Given that she was sexually-naive and had a recent illness the most likely cause was a Lipschultz ulcer. As the patient had increasing pain, topical lidocaine was prescribed with followup with her regular doctor. Emollients and sitz baths were also recommended along with continued use of acetaminophen. The patient’s clinical course 4 days later revealed that the pain was better controlled and she overall was feeling better. Her mother had looked at the lesions and felt that they were unchanged.

Discussion
Acute genital ulcers (AGU) are much less common in sexually-naive women than sexually experienced or active women. The differential diagnosis of AGU is large. For sexually active women Herpes simplex virus is the most common cause. Sexually transmitted infections are also included in this differential. In addition to the pain, AGUs can cause distress for the patient and family as possible sexual abuse must be considered.

The differential diagnosis of AGU in non-sexually active women includes:

  • Aphthosis
    • Lipschutz ulcer
    • Idiopathic
  • Autoimmune or inflammatory diseases
    • Behcet disease
    • Bullous pemphigoid
    • Inflammatory bowel disease
    • MAGIC syndrome
    • Pemphigus vulgaris
    • Pyoderma gangrenosum
  • Infection
    • Epstein Barr virus
    • Cytomegalovirus
    • Influenza A
    • Mumps
    • Mycoplasma
    • Paratyphoid
    • Salmonella
    • SARS-CoV-2 (COVID 19) – possibly?
  • Medication
    • Fixed drug eruption
    • Non-steroidal anti-inflammatory drugs
  • Trauma
    • Irritation, chronic
    • Trauma

Learning Point
Lipschutz ulcers (also known as ulcus vulvae acutum) were described in 1913 by Benjamin Lipschutz an Austrian microbiologist and dermatologist. They are ulcerations in young adolescents without a history of sexual activity. The painful acute ulcers are described as “…deep, necrotic with a purplish single or multiple margins, presenting in a mirror [kissing] pattern, and primary affect the medial face of the labia minora.” Fever and malaise commonly occur with it and other signs and symptoms can occur including adenopathy, headache, myalgia and pharyngitis. Symptoms can last for some weeks. The cause is not known but it has been associated with infections such as Epstein Barr virus and other infectious causes. It is early in the COVID-19 epidemic and it is possible that this is also a new cause.

Lipschutz ulcer actual incidence and prevalence is unknown but felt to be underdiagnosed. A 2019 retrospective case review of women (N=232) seeking gynecological care for acute genital ulcers found that ~4.4% had possible Lipschultz ulcer (which included patients < 20 years old) and if no age restrictions were in place then the number increased to ~35.9%.

Some consider juvenile gangrenous vasculitis of the scrotum as the male counterpart for Lipschutz ulcer.

Evaluation of AGU depends a great deal with the history, including history of autoimmune symptoms, sexual activity, and acute infectious symptoms and evaluation should be tailored to the patient. Patients without a history of sexual activity and negative autoimmune or infectious symptoms may not need an extended evaluation and idiopathic ulcers should be considered. Treatment for Lipschultz ulcers includes hygiene with sitz bath or whirlpool debridement, and pain control including topical medications and narcotics as needed. Topical or oral steroids are also used. Patients with urinary retention may need bladder drainage. Specialist care may also be needed.

Questions for Further Discussion
1. What causes oral ulcers? A review can be found here
2. What causes vaginal discharge? A review can be found here
3. What is in the differential diagnosis of urinary hesitancy? 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 and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Vulvar Disorders and Vaginal Diseases.

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.

Rosman IS, Berk DR, Bayliss SJ, White AJ, Merritt DF. Acute genital ulcers in nonsexually active young girls: case series, review of the literature, and evaluation and management recommendations. Pediatr Dermatol. 2012;29(2):147-153. doi:10.1111/j.1525-1470.2011.01589

Schindler Leal AA, Piccinato CA, Beck APA, Gomes MTV, Podgaec S. Acute genital ulcers: keep Lipschutz ulcer in mind. Arch Gynecol Obstet. 2018;298(5):927-931. doi:10.1007/s00404-018-4866-6

Chen W, Plewig G. Lipschutz genital ulcer revisited: is juvenile gangrenous vasculitis of the scrotum the male counterpart? J Eur Acad Dermatol Venereol. 2019;33(9):1660-1666. doi:10.1111/jdv.15598

Sadoghi B, Stary G, Wolf P, Komericki P. Ulcus vulvae acutum Lipschutz: a systematic literature review and a diagnostic and therapeutic algorithm. J Eur Acad Dermatol Venereol. 2020;34(7):1432-1439. doi:10.1111/jdv.16161

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

What Are Potential Complications of Hearing Aids?

Patient Presentation
A 7-year-old female came to clinic for her health supervision visit. She had a history of recently identified unilateral, moderate, conductive hearing loss that was found during a school hearing screening. She had a history of recurrent otitis media when she was younger. The father stated that they were ordering her a hearing aid but he was concerned about potential complications and wanted to know more about them. The family history was positive for hearing loss in a great grandfather when he was old.

The pertinent physical exam had normal vital signs and growth parameters were in the 50-90%. Her physical examination was normal. The diagnosis of a healthy child with a moderate hearing loss was made. The pediatrician said that he didn’t know exactly what the complications were but not having the hearing aid fitted properly, possible skin infection and wax build up seemed to be likely. He recommended that the father talk again with the audiologist either before or during her next appointment so he understood the common potential problems and how to use the device properly.

Discussion
Hearing loss can range from profound deafness to fairly minor loss. The causes vary based on age, type of loss (sensorineuronal or conductive, about half of hearing loss in children has a genetic cause), degree and audiometric configuration. Sensorineuronal hearing loss involves the cochlea and neural connections to the brain and auditory cortex. Conductive hearing loss involves structures from the external ear to the oval window. Deafness is defined as a hearing loss > 90 dB. Hearing loss can affect the living and learning of children more than many people realize. “A child with a mild hearing loss can miss up to 50% of what is being said in the classroom.” Therefore it is important to screen for hearing loss. A differential diagnosis of hearing loss can be found here.

People with hearing loss or deafness will use different hearing equipment and have different preferences for communication. Use of spoken language is usually a person’s first choice, but they may use lip-reading, a signed language, hearing equipment or a combination of these. Signed languages may need an in-person or video-type interpreter, but there are technologies being developed that are trying to use automated translation. There are also technologies which directly connect hearing aids to radios/televisions/computers or to other equipment within a work environment or home (e.g. telephone, doorbell). It is important to ask the person their communication preferences and provide appropriate communication before, during and after appointments. Other tips for the provider during the visit are the same for any other good communication interaction: get the person’s attention, face the patient without the face or mouth covered, the provider’s face should have good lighting, make sure the topic of conversation is understood, reduce background noise, and continue to try to communicate even when it may be difficult.

Learning Point
Intra-aural or air conduction hearing aids don’t restore sounds but help to magnify the sound and allow people to hear better than they could otherwise. They do not work right away, unlike eyeglasses, as the brain needs to adapt to the improved sound.

Possible complications of intra-aural hearing aids include:

  • Comfort and skin irritation – Ill-fitting devices can cause pain or skin irritation that can be improved with proper fitting
  • Headache and tinnitus often improve with more time as the brain gets used to the improved sound
  • Pruritus caused by cerumen accumulation – keep cerumen moving by cleaning out ears with spray/drops which also help moisturize the canal.
  • Feedback of sound – sounds like whistling/cracking. Usually brief but if consistent or frequent may need an audiologist to evaluate
  • Poor sound quality or improper volume level – may need the audiologist to evaluate, can use a programmable hearing aid, device may need cleaning or batteries
  • Loss of device

Possible complications of bone conduction hearing aids in studies in adults cite <10% for major complications and <25% for minor complications. In a retrospective chart review of pediatric cases, complications were more common than adults with 44% needing revision surgery (e.g. surgical skin interventions, fixture problems), and 53% had minor complications, mainly skin infections and skin overgrowth.

Questions for Further Discussion
1. What are the hearing screening recommendations in your location?
2. What types of hearing screening tests are used and what are their pros/cons?
3. List some genetic syndromes which have hearing loss as a major sign?
4. What are the hearing risks of using earbuds and headphones?
5. How much do hearing aids cost?

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 these topics: Hearing Aids and Hearing Disorders and Deafness.

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.

Hearing Aids Side Effects. Hearing Direct. Published September 6, 2017. Accessed October 26, 2020. https://www.hearingdirect.com/blog/hearing-aids-side-effects.html

Chan KH, Gao D, Jensen EL, Allen GC, Cass SP. Complications and parent satisfaction in pediatric osseointegrated bone-conduction hearing implants. Laryngoscope. 2017;127(9):2165-2170. doi:10.1002/lary.26469

Easson A, Walter S. Hearing-impaired young people – a physician’s guide. Clin Med (Lond). 2017;17(6):521-524. doi:10.7861/clinmedicine.17-6-521.

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