30 Uncommon Diseases Parents Should Learn to Recognize

Did you know that just because your younger child is pulling at their ears, it doesn’t automatically mean that they have an ear infection?

It could be teething, an over-tired infant or toddler, or a kid with a cold and their ears are popping because of congestion.

Understanding common, and some not so common symptoms of pediatric diseases can help make sure that your kids get diagnosed and treated quickly.

Symptoms of Classic Pediatric Diseases

Most parents are familiar with the more classic pediatric diseases and the signs and symptoms that accompany them, such as:

  • Appendicitis – classically, it starts with pain near the belly button, which quickly worsens and moves to the lower right side of your child’s abdomen. Appendicitis is not always classic though
  • Croup – often starts in the middle of the night with a seal bark cough, heavy breathing that sounds like wheezing, and a hoarse voice
  • Diabetes – type 1 diabetes is classically associated with polydipsia (drinking a lot), polyuria (frequently urinating large amounts), and weight loss
  • Ear infection – in addition to ear pain, fussiness, or tugging at their ears, kids with an ear infection will usually have cold symptoms, or at least might have had a recent cold, with a cough and runny nose
  • Fifth disease – red cheeks that appear to be slapped followed by a pink lacy rash on a child’s arms and legs that can linger for weeks
  • Hand, foot, and mouth disease – caused by the coxsackievirus A16 virus, kids with HFMD classically have ulcers in their mouth and little red blisters on their hands and feet. They might also have a fever and a rash on their buttocks and legs.
  • Hives – hives or whelps are raised, red or pink areas on your child’s skin that come and go, moving around over a period of three to four hours and are a sign of an allergic reaction. Unfortunately, unless your child is taking medicine or just eat something, it can be hard to find the allergic trigger. You often don’t need to though, as hives can also just be triggered by viral infections and might not come back.
  • Impetigo – honey colored crusted areas on your child’s skin that are a sign of a bacterial infection
  • Ringworm – a fungal infection that can appear on a child’s skin (tinea corporis), feet (tinea pedis), groin (tinea cruris), nails (tinea unguium), or scalp (tinea capitis)
  • Roseola – another viral infection, this one is caused by human herpesvirus 6 (HHV-6) and 7 and causes a high fever for three or four days, and then, as the fever breaks, your child breaks out in a pinkish rash. The rash starts on their trunk, spreads to their arms and legs, and is gone in a few days.
  • Swimmer’s ear – the tricky part about recognizing swimmer’s ear is that you can get it anytime you get water in your ear, not just after swimming, leading to pain of the outer ear, especially when you push or tug on it.

Symptoms of Uncommon Pediatric Diseases

Although not necessarily rare, it is often uncommon for the average parent, and some pediatricians, to be familiar with all of the following conditions unless they have already been affected by them.

Having dark, brown or Coca Cola-colored urine is a classic sign of acute post streptococcal glomerulonephritis.
Having dark, brown or Coca Cola-colored urine is a classic sign of acute post streptococcal glomerulonephritis. Photo by Vincent Iannelli, MD

Why should you know about them?

Some are medical emergencies. Missing them could lead to a delay in seeking treatment.

Others, while they might not be emergencies, often lead parents to seek treatment, but it might not necessarily be the right treatment if someone doesn’t recognize what is truly going on with your child.

  1. Acanthosis nigricans – dark thickened (velvety textured) skin often found on the back of an overweight teen’s neck, and sometimes in their armpits and other skin folds, and which can be a sign of type 2 diabetes
  2. Anaphylaxis – while a severe allergic reaction like anaphylaxis is not easy to miss, getting proper treatment is sometimes difficult. This life-threatening reaction requires an epinephrine injection as soon as possible, something that some parents and even some emergency rooms seem hesitant to do.
  3. Bell’s Palsy – children with Bell’s palsy develop a sudden weakness or paralysis of the muscles of one side of their face. Fortunately, the symptoms usually begin to resolve in a few weeks.
  4. Breath holding spells – a young child having a breath holding spell will actually pass out! While it sounds scary, since they follow a typical pattern, either the child is crying forcibly (cyanotic breath holding spell) or something painful happened suddenly (pallid breath holding spell), and they quickly wake up and are fine, you hopefully won’t panic if you ever see one.
  5. Cat scratch disease – after a bite or scratch from an infected cat or kitten, a child will develop a few lesions at the scratch site, but will also develop enlarged lymph nodes nearby – typically their armpit or neck if they were scratched on the arm.
  6. Cyclic vomiting syndrome – possibly related to migraines, children with cyclic vomiting syndrome have repeated episodes of intense nausea and vomiting, sometimes leading to dehydration, every few weeks or months
  7. Diabetes insipidus – like type 1 diabetes, kids with diabetes insipidus urinate a lot and drink a lot, but it has nothing to do with their blood sugar. It can follow a head injury or problem with their kidneys.
  8. Encopresis – kids with encopresis have soiling accidents, sometimes leading parents to think that they have diarrhea. Instead, they are severely constipated and have small amounts of liquidy stool  involuntarily leaking into their underwear after getting passed large amounts of impacted stool.
  9. Erythema multiforme minor – triggered by infections and sometimes medications, kids with EM have a rash that looks like hives, but instead of going away, they just keep getting more spots, some of which look like target lesions. The severe form of EM, erythema multiforme major is fortunately rare.
  10. Geographic tongue – a curiosity more than a condition, children with geographic tongue have bald areas on their tongue where the papilla have been lost (temporarily). The name comes from the fact that the shapes of the bald areas vary in size and shape and they move around. They are not painful, although parents typically don’t notice them until they look in their child’s mouth when they complain of a sore throat or other problem.
  11. Henoch-Schonlein Purpura (HSP) – episodes of HSP typically follow an upper respiratory tract infection, when kids develop a rash (palpable pururpa), stomach aches, arthritis (joint swelling and pain), and more rarely, kidney problems. The rash is distinctive – red dots (petechiae) and a hive-like rash that looks like bruises.
  12. Hemolytic Uremic Syndrome (HUS) – follows a diarrheal illness with E. coli, in which toxin from the bacteria causes bleeding (from low platelets) and anemia (destruction of red blood cells) and can lead to kidney damage.
  13. Intussusception – colicky abdominal pain (severe pain that comes and goes) and loose stools that are filled with blood and mucous (red currant jelly stools) in young kids, typically between the ages of three months and three years
  14. Kawasaki disease – it is important to recognize when a child might have Kawasaki disease, because early treatment might help prevent serious heart complications from developing. The initial signs and symptoms of Kawasaki disease can include a prolonged fever (more than five days), swollen lymph glands, pink eye (without discharge), rash, strawberry tongue, irritability, swelling of hands and feet, red and cracked lips, and as the fever goes away, skin peeling.
  15. Nephrotic syndrome – kids with nephrotic syndrome have swelling (edema), around their eyes, on their legs, and even their belly. All of the swelling causes them to quickly gain weight. Because, at first, the swelling is worse in the morning and gets better as your child is up and about, it might be mistaken for other things that cause swelling, like eye allergies. Nephrotic syndrome won’t get better with eye drops though.
  16. Night terrors – most common in preschoolers and younger school age children, kids with night terrors ‘wake up’ in the early part of the night screaming and are confused and impossible to console, because they are really still asleep. The episodes are not remembered the next morning and are often triggered when kids are off their schedule or under extra stress.
  17. Nursemaid’s elbow – you are walking with your toddler and all of a sudden he gets mad, drops to the ground while you are holding his hand, and then he refuses to move his arm or bend his elbow. Did you break his arm? It’s probably a radial head subluxation, which your pediatrician can usually easily reduce.
  18. Obstructive sleep apnea – although many kids might snore normally, with obstructive sleep apnea, the snoring will be loud, with pauses, gasps, and snorts that might wake your child up or at least disturb their sleep.
  19. PANDAS – Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections is characterized by OCD and/or tics that appear or suddenly worsen after a strep infection.
  20. Peritonsillar abscess – a complication of tonsillitis, it can cause fever, severe throat pain, drooling, a muffled voice (hot potato voice), and swelling on the side of one tonsil, pushing the uvula towards the other side
  21. Pica – while many younger kids put things in their mouth, kids with pica crave and eat all of those non-food things. Since it can be a sign of iron-deficiency, talk to your pediatrician if you think that your child might have pica.
  22. Pityriasis rosea – kids with pityriasis rosea have a rash that starts with a herald patch (looks like a ringworm) and is then followed by a lot of small, oval shaped red or pink patches with scale on their trunk. The rash, which may be a little itchy, can last for up to 6-12 weeks.
  23. POTS – teens with Postural Orthostatic Tachycardia Syndrome have dizziness, fatigue, headaches, nausea, difficulty concentrating and other symptoms related to alterations or dysfunction in the autonomic nervous system (dysautonomia).
  24. Pyloric stenosis – since so many infants spit up, it is not uncommon for the parents and pediatricians to sometimes delay thinking about pyloric stenosis when a baby has it. Unlike reflux or a stomach virus, with pyloric stenosis, because their pylorus muscle becomes enlarged, no food or liquid is able to leave their stomach and they eventually have projectile vomiting of everything they try to eat or drink. It is most common in babies who are about three to five weeks old.
  25. Scalded skin syndrome – unlike typical bacterial skin infections, with scalded skin syndrome, exotoxins that certain Staphylococcus aureus bacteria cause the skin to blister and appear burned, with eventual skin peeling
  26. Stevens-Johnson Syndrome – a rare skin reaction that can be triggered by medications, beginning with flu like symptoms, but then progressing to a blistering rash that includes their mouth and eyes.
  27. Testicular torsion – if one of the testicles twists around the spermatic cord, it can cut off blood flow and quickly lead to permanent damage. Sudden, severe pain and swelling often make it easy to recognize this medical emergency, but sometimes the pain comes on more slowly or the pain is dismissed as happening from trauma, epididymitis, or torsion of the appendix testis.
  28. Toxic synovitis – typically following a viral infection, kids with toxic synovitis have hip pain and limping for a few days, but otherwise seem well, without high fever or other symptoms
  29. Vocal cord dysfunction – often misdiagnosed as asthma, especially exercise induced asthma, and other things, kids with vocal cord dysfunction often have episodes of repeated shortness of breath, chest tightness, wheezing, and coughing – just like asthma. They don’t improve though, even as more asthma medicines are added, which should be a red flag that they don’t have asthma and could have vocal cord dysfunction instead.
  30. Volvulus – a volvulus occurs when the intestines twists on itself, cutting off blood blow. In addition to severe abdominal pain, these kids often having vomiting – typically of a green, bile looking material (bilious vomiting). Green vomitus can also be a sign of other intestinal obstructions, but all would be a medical emergency.

Is knowing about these conditions always helpful?

No, especially if you don’t know what a ‘seal bark’ or ‘hot potato voice’ sounds like or what ‘red currant jelly’ looks like, but it likely shouldn’t hurt to get a little more educated about the diseases that could be causing your child’s symptoms.

What to Know About Recognizing Symptoms of Pediatric Disease

Having the internet and access to Google doesn’t make you a doctor. Get real medical advice if you think that your child is sick and has symptoms that have you concerned. It does help to know which symptoms to be concerned about though.

More on Recognizing Symptoms of Pediatric Disease

 

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