What Distinguishes Childhood Masturbation from Other Potential Diagnostic Entities?

Patient Presentation
A 3-year-old female came to clinic for followup after seeing an urgent care provider for possible urinary tract infection 3 days previously. The parent had complained that the child had been putting her hands in her genital area more frequently or “holding herself.” The provider had noticed some vulvar and vaginal irritation and had started her on antibiotics for possible urinary tract infection. Her mother had continued to see the behavior and was concerned. During the visit the child sat on a child-sized chair and would put her hand in her genital area and did some rocking back and forth. The mother said that this was the behavior she was worried about and had also videotaped it. The video showed the child at a table during a meal performing the same behavior. The pediatrician noted that the child did not seem distressed or worried when performing the behavior. The mother agreed and said that she seemed calmer. The mother noted that she was always aware/awake during the episodes as well and would stop the behavior her name was called out, a hand was put on her arm or otherwise distracted. The mother denied any concerns for child maltreatment. The past medical history was negative for any renal problems and the family history was negative for genital or renal problems. The review of systems showed no specific urinary frequency or dysuria, fever, or malodorous urine or vaginal discharge. Stooling was normal.

The pertinent physical exam showed a healthy female with normal vital signs and growth parameters. She had some mild vaginal irritation. The hymen was intact and no other lesions including bruises or rashes were noted in the genital area, abdomen or legs.

The diagnosis of vaginal irritation and childhood masturbation was made. “It can be difficult to tell if there was irritation which started her touching herself which then continued, or if she was touching herself which caused some irritation,” the pediatrician explained. “Either way, improving her hygiene will help the irritation,” she explained. The pediatrician also went on to explain the normal self exploration and stimulation that young children perform, and how the mother could explain to the child that this is normal but people don’t do this in public. The antibiotics were also stopped.

Childhood masturbation (CM) is defined as self-stimulation of the genitalia in a prepubescent child.” CM is normal sexual behavior and can be noted at all ages including infancy. It becomes very common after puberty. It is one of the most common sexual behaviors. CM can resemble the same adult masturbatory activity including flushing, sweating, muscular contracting and breath holding or tachypnea. However in younger children these changes are not recognized, are interpreted differently or infants and young children may also have different activities. “…(1)stereotyped posturing of the lower extremities and/or mechanical pressure on the perineum or suprapubic area, (2) associated intermittent (quiet) grunting, irregular breathing, facial flushing and diaphoresis, (3) variable duration of the episode (lasting from a few seconds to several hours) and variable frequencies of episodes (range form once in a while to almost continuously), (4) no alteration of consciousness, (5) cessation with distraction, (6) the episodes cannot be explained by abnormalities on physical and other diagnostic (technical, laboratory) examinations.”

In young children CM is part of their curiosity of the world and in this case in exploring their own and other’s bodies (i.e. viewing genitalia) and in discovering pleasurable sensations. Sexual behaviors in puberty and post-pubertal youth and adults is more intentional with sexual arousal and/or orgasm as goals. Some parents especially worry that the behaviors are abnormal or excessive. There is no specific definition of normal or excessive and these are left to interpretation. Normative behavior is based on cultural, group or societal expectations with the idea that they support health or at least do not hinder it. For example, as children mature and reach school age, they are less likely to do CM activities in public as they have learned that certain behaviors are not acceptable in public. If the CM causes distress for the child, is outside the developmental range for the child’s age, or there are concerns for child maltreatment, or there are multiple behavioral problems, then simple normative CM may not be the only diagnosis to consider. In children with psychological stress, CM can be a regulating mechanism. It can also be a stimulatory activity for children with severe lack of external stimulation in their lives.

CM can occur in children who are victims of abuse. No specific behavior is pathognomonic of abuse and for many victims there are no symptoms at all. However sexualized behavior is one of the common symptoms of child abuse. Examples of inappropriate sexual behaviors include:

  • Putting mouth on breasts or genitals
  • Masturbating with objects
  • Inserting objects into vagina/anus
  • Inserting tongue while kissing
  • Imitating sexual sounds
  • Undressing with other people
  • Wanting to participate in sexual acts or imitating sexual intercourse including with dolls or toys
  • Wanting to see inappropriate video or television

Parental and societal views of CM are different and should be respected. Discussing normal growth and development of the child including their own sexuality usually normalizes the behavior and understanding for families. Based on the family’s beliefs, the child’s age and education, the child (and family) can be educated about their sexuality and taught to masturbate in a private location similar to other private activities such as elimination. Some people have strong feelings about the term masturbation and alternatives include self-stimulation or gratification.

Reasons that CM comes to attention can be attributing it to abdominal pain, seizures, dystonia, movement disorders, urinary tract infections, vaginal discharge or vaginitis, diaper rash, phimosis, balanitis, pinworms, eczema and lichen sclerosus. Sometimes it can be difficult to tell if the CM caused genital trauma which in turn leads to the child complaining of pain or holding or rubbing their genitals, or if it is the other way around. Videotaping the behavior can help with diagnosis as the behavior can be reviewed by the clinician and family together.

Learning Point
The key element which distinguishes CM from other differential diagnostic entities is that it ceases with distraction. Children are awake during the behavior.

Questions for Further Discussion
1. Describe common sexual behaviors in young children. A review can be found here
2. What is differential diagnosis of vulvovaginitis? 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: Sexual Health and Child Behavior Disorders.

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.

Mallants C, Casteels K. Practical approach to childhood masturbation – a review. European Journal of Pediatrics. 2008;167(10):1111-1117. doi:10.1007/s00431-008-0766-2

Strachan E, Staples B. Masturbation. Pediatr Rev. 2012;33(4):190-191. doi:10.1542/pir.33-4-190

Wilkinson B, John RM. Understanding Masturbation in the Pediatric Patient. J Pediatr Health Care. 2018;32(6):639-643. doi:10.1016/j.pedhc.2018.05.001

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

What Are the Oral Equivalents of Milia of the Face?

Patient Presentation
A 2-week-old male came to clinic for his health supervision visit. The family had many first-time parent questions and were adapting to the infant and his needs. The past medical history showed a term male born without difficulties.

The pertinent physical exam he was 3.645 kg, and was past birth weight of 3.380 kg. His length and head circumference were 75%. On physical examination he showed a few lesions of erythema toxicum on his cheeks. On his alveolar ridge he had some fluid-filled inclusions on the palate mid-line and posterior. The rest of his examination was normal.

The diagnosis of a healthy male with erythema toxicum and Epstein’s pearls was made. The family had not noticed the Epstein’s pearls and became concerned. The physician noted how these were a normal variation and would resolve as would the erythema toxicum.

Milia are small, usually < or = to 3 mm, benign, white, superficial keratinous cysts. They can arise spontaneously (are defined as primary) or because of other conditions (are defined as secondary). Milia can occur at any age but are common in adult patients. However, primary care providers for neonates see it commonly as well as congenital milia occurs in 40-50% of newborns.

Milia occurs more often on the face (especially the nose), but also scalp, neck/upper parts of the trunk and upper extremities. They usually resolve spontaneously in a few weeks, but patient and parent preference may dictate treatment. Treatment options include simple extraction by nicking and lateral pressure to extract the keratin. Other options include topical retinoids, electrocautery, or electrodissection. The differential diagnosis for congenital milia usually includes molluscum contagiosum which has a central umbilication, miliaria crystallinia which has pin-point clear vesicles, sebaceous hyperplasia which is usually more yellow than white in color, transient neonatal pustular melanosis where the vesicles present at birth rupture in a couple of days and heal with hyperpigmentation or candidal or bacterial lesions.

Various images of milia can be seen in “To Learn More” below.

Benign primary milia in children and adults occur spontaneously but are more likely to involve the eyelids and cheeks.

Other milia variations include:

  • Milia en plaque which is rare but has an erythematous plaque lesion with multiple milia lesions contained within it.
  • Nodular grouped milia are also uncommon and are similar but have a nodule with multiple milia contained within it.
  • Generalized milia with nevus depigmentosus where multiple milia are found in the area of hypopigmentation.
  • There are multiple genetic syndromes which also include milia as part of their syndrome. For example hereditary vitamin D dependent rickets, or basal cell nervus syndrome.
  • Secondary milia are localized milia but associated with disease, trauma or medications. They can resolve spontaneously but are less likely.

Learning Point
Oral equivalents of congenital milia are seen with the oral inclusion cysts called Epstein’s pearls on the palate near the midline raphe or Bohn’s nodules on the alveolar ridge and lateral palate.

Questions for Further Discussion

1. What are some options for oral thrush treatment? A review can be found here
2. What causes leukoplakia? A review can be found here
3. What are some of the skills dentists bring to overall pediatric health?

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: Common Infant and Newborn Problems.

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.

Berk DR, Bayliss SJ. Milia: a review and classification. J Am Acad Dermatol. 2008;59(6):1050-1063. doi:10.1016/j.jaad.2008.07.034

Kansal NK, Agarwal S. Neonatal milia. Indian Pediatr. 2015;52(8):723-724.

Wang AR, Bercovitch L. Congenital Milia En Plaque. Pediatr Dermatol. 2016;33(4):e258-259. doi:10.1111/pde.12888

Zaouak A, Chamli A, Ben Jennet S, Hammami H, Fenniche S. Milia en plaque. La Presse Medicale. 2019;48(12):1589-1590. doi:10.1016/j.lpm.2019.09.001

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

What Are Common Presentations for Factitious Disorder?

Patient Presentation
A 17-year-old female came to clinic with a history of 4 episodes over the past month of saying she didn’t feel well, falling to the floor, shaking of her hands and face and then after a period of time would be responsive. The episodes lasted an unknown period of time but less than 2 minutes. She would be normal after them within 5-10 minutes. They occurred when she was doing something like cooking, but had not been standing for long periods of time nor was exercising. She had no loss of bowel or bladder control and those around her say she was unresponsive to her name. She denied trying to diet, taking medications or drugs, and reported normal sleeping. She denied any recent abnormal events or stress. During the office visit, she had one of these episodes and during it she had a pulse of ~90 beats/minutes and steady, pulse oximeter was 100%, she had tremulousness of her arms, hands and face, but none of her lower extremities and did not have jerking. Her eyes had tremulousness when the examiner opened them but saw normal pupils and reactivity. She was responsive to name within 20 seconds, and fully alert within 90 seconds. The past medical history was positive for depression and she was taking an anti-depressant. There were stimulant medications in the home for another sibling. The family history was negative for seizures or other neurological problems, or cardiac problems. They denied any early or unexplained deaths. There was diabetes in the family. The review of systems was negative.

The pertinent physical exam showed a healthy appearing female with normal vital signs with weight in the 75% and height in the 90%. Her examination was otherwise unremarkable. The diagnosis of an unexplained episode that possibly was a seizure, but did not appear to be syncopal. The patient’s clinical course showed she was sent to the emergency room for further evaluation and was admitted overnight. Laboratory testing was normal as was an electroencephalogram and the cardiac monitoring during the hospitalization showed no abnormalities. The health care personnel did not know what these episodes represented. She was diagnosed with “abnormal behavior” and was to followup with her primary doctor who was also managing her mental health.

Factitious disorder (FD) is when patients fabricate illness in themselves or another person without obvious gain. FD has had other terminology and in the past has been called Munchausen Syndrome (if FD in themselves) or Munchausen Syndrome by proxy or FD by proxy (if FD being perpetuated in another person). The current DSM-V terminology is FD imposed on self or FD imposed on another. Malingering (sometimes referred to as simulation) is similar but those that fabricate illness or medical need have an obvious external reward such as gaining access to public social service benefits, free hospital room and board, or evading military service. Malingering does not have a DSM-V designation but has a “V” code for criteria to consider in making other diagnoses. Intentionality is the key difference here between FD and malingering.

FD can be very difficult to diagnose and treat as the motivations for the FD are often obscure, the patients deny the problem and often doctor- or hospital-shop so no continuity or pattern is established to make the diagnoses or help with treatment. It is underdiagnosed and less likely to be reported unless severe injury or death are outcomes. Costs to the health system can be enormous because of diagnostic and treatment procedures and hospitalizations, and patients put themselves at iatrogenic risk. Fortunately fatalities reported in the adult literature are rare, but this is not true in at least one systematic review of the pediatric literature.

A systematic literature review of FD in the adult (> 18 year old) population, identified 455 cases, with 66% being female, younger age (mean 32 years) and of the professions identified 47% were in healthcare particularly nursing. FD have co-morbid conditions as well and this study identified depression (42%), personality disorder (17%), substance abuse (15%) and anxiety (15%). Suicidal thoughts or attempts were reported in 14%. Common reasons for diagnosing FD were past health care use, atypical presentation, treatment failure, investigations or evidence of fabrication. Most patients (59%) in this study “…elected to induce illness or injury in themselves instead of attempting only to simulate (19%) or falsely report (22%) a medical problem.”

FD imposed on another can be medical child abuse. In a systematic literature review of perpetrators of medical child abuse, they nearly always the victim’s mother (96%) and almost all female (98%). They also were young with a mean age of 27.6 years and 46% were in the health professions. Common co-morbidities were FD imposed on self (31%), personality disorder (19%) and depression (14%). There was also a strong history of childhood maltreatment (30%).

Learning Point
“The variety of methods available to these patients [to feign an illness] is limited in principle only by their level of dedication, imagination and medical knowledge.” “The wealth of medical knowledge now available on the Internet may enable patients lacking a background in healthcare to present with complex medical problems. It is seldom possible to diagnose FD with conviction….”

In adult FD patients, many patients present with signs and symptoms for protocol-driven admissions such as retrosternal chest pain, or use common medications such as insulin, anticoagulants and thyroid hormones to induce illness and change blood chemistries so there is “objective evidence” of disease. Using hallucinogens to alter perception, hypnotics to include lethargy, or stimulants to produce insomnia and irritability occur. In adult patients the most common presentations were (parentheses indicates number of cases out of 455):

  • Recurrent hypoglycemia – 31
  • Retrosternal chest pain – 29
  • Severe renal pain – 13
  • General dermatological lesions, induced – 10
  • Cushing syndrome symptoms – 9
  • Anemia, induced – 9
  • Thyrotoxicosis, induced – 8
  • Asthma, simulated episodes – 8
  • Breast dermatological lesions, induced – 7
  • Sepsis, induced – 7
  • Chronic pain reported – 7
  • Severe diarrhea, induced – 6
  • Keratoconjunctivities, induced – 6

The cases in the pediatric population most likely differ as children may not be as sophisticated as adults in planning and carrying out FD or mimicking of them, nor may have access to various medications.
In this author’s experience, ill-defined episodes of potential seizures, syncope or vertigo, and chronic pain are fairly common and may represent organic disease or potentially a FD.
Combinations of various signs or symptoms may raise the issue that FD may be part of, or the cause of, and can include:

  • Atypical presentation
  • Symptoms present only when individual is observed
  • Atypical behavior in the hospital or clinic (e.g. arguing with personnel, disobedience of hospital rules)
  • Unusual understanding of hospital/medical terminology and routines
  • Multiple evaluations/treatments in the past without results
  • Few outside visitors during hospitalization
  • Intense relationships with other patients or healthcare providers
  • Developing symptoms of other patients
  • Worsening of symptoms after discharge from hospital
  • Evidence of traveling to multiple institutions
  • Pseudologia fantastic (pathological liar)

Patients with rare or difficult to diagnose organic disease can also have strange or abnormal symptoms which may require careful monitoring and evaluation to also diagnose. There can be an important, and difficult balance between monitoring of symptoms for organic disease and more evaluation in a patient with potential FD.

Questions for Further Discussion
1. How are FD and seizures similar and different?
2. How are FD and syncope similar and different?
3. If FD is considered, how could this diagnosis be made and what potential therapy is available if the patient was willing?

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: Seizures and Fainting.

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.

Yates GP, Feldman MD. Factitious disorder: a systematic review of 455 cases in the professional literature. General Hospital Psychiatry. 2016;41:20-28. doi:10.1016/j.genhosppsych.2016.05.002

de Sousa D, Kanomata EY, Feldman RJ, Maluf A. Munchausen syndrome and Munchausen syndrome by proxy: a narrative review. Einstein (Sao Paulo). 2017;15(4):516-521. doi:10.1590/S1679-45082017MD3746

Yates G, Bass C. The perpetrators of medical child abuse (Munchausen Syndrome by Proxy) – A systematic review of 796 cases. Child Abuse Negl. 2017;72:45-53. doi:10.1016/j.chiabu.2017.07.008

Tozzo P, Picozzi M, Caenazzo L. Munchausen Syndrome by Proxy: balancing ethical and clinical challenges for healthcare professionals. Clin Ter. 2018;169(3):e129-e134. doi:10.7417/T.2018.2067

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

What Causes Joint Pain?

Patient Presentation
A 9-year-old male came to clinic with a history of intermittent knee pain for several weeks. His mother was concerned because he usually was a happy active child who did not complain but had been complaining of knee pain around dinner time 2-3 days/week for a few weeks. She would tell him to lay down and rest and it usually would go away but a few times she had given him some acetaminophen but wasn’t sure if it was helpful. He would be normal in the morning and throughout the day. It never occurred while he was sleeping. She said she had not noticed any swelling, redness, or any problems with the joints themselves. They denied any trauma but he was a very active child and could have hurt himself when the parent wasn’t around. The past medical history was negative. The family history was negative for any malignancy, or rheumatological, or orthopaedic problems. There was hyperthyroidism in a maternal aunt and heart disease on both sides of the family. The review of systems was negative with both of them denying any rashes, diarrhea, fever, cough, recent illness, weight loss, night sweats, or problems with bruising or bleeding.

The pertinent physical exam showed a healthy boy with normal growth parameters with normal growth velocities since his last visit. His skin examination showed several bruises and scrapes on his knees and lower extremities and he was tanned. His general physical examination was normal. His musculoskeletal examination showed full range of motion in the hips, knees, ankles, forefoot and toes. There was no swelling or redness, nor pain elicited on movement or palpation. He had a normal neurological examination and did not have changes in muscle bulk and strength and tone were normal. Other joints showed full range of motion including his temporomandibular joint.

The diagnosis of of benign nocturnal leg pain was made. The physician explained the natural history to the parent and child but also recommended to monitor the patient and reviewed symptoms to contact him about immediately such as fever, rashes, increased bruising or bleeding, etc.

Musculoskeletal problems are common problems in pediatric practice with up to 15% of acute care visits being for this problem.

Joint pain is a common concern for families but the differential diagnosis is extensive and needs thoughtful consideration. History is a key to discerning the potential diagnosis but also in guiding the physical examination and laboratory examination. Family history especially for systemic diseases should be considered. On physical examination all joints should be examined include sacroiliac and temporomandibular joints.

  • Is this arthritis or arthralgia? Distinction between inflammatory and non-inflammatory joints is important. Joints with inflammation are painful or stiff after rest and improve with activity. Joints without inflammation are better after rest and get worse with more activity.
  • What is the age of patient? The differential diagnosis will change with age. For example back pain is more likely to be due to overexertion or trauma in an adolescent. But true back pain in a child under age 6 may be due to malignancy or more serious problem.
  • How long has the pain been occurring? Acute is generally < 6 weeks, and chronic is more.
  • Single or multiple locations and are the locations consistent or migratory? This helps with classifying juvenile idiopathic arthritis, but also helps with other diagnoses as foreign body, trauma and septic joints are usually single joints. See the differential diagnosis below for additional information about various patterns.
  • What is the joint involvement pattern? Small symmetric joints may point to JIA but large, migratory joints with fever may be rheumatic arthritis. See the differential diagnosis below for additional information about various patterns.
  • Is there an enthesis involved? Soft tissue problems are common and insertion points can commonly be affected. “Entheses are sites of attachment of tendon and ligaments to bone and are typically inflammed in enthesitis-related arthritis.” Example of common sites for this are the patellar ligament on tibial tuberosity, Achilles tendon on the calcaneus or plantar fascia insertion on the metatarsal heads. See the differential diagnosis below for additional information about various patterns.
  • Does the child have objective evidence of a “hot joint” or systemic illness such as redness, swelling, fever, weakness, weight loss, oral/genital ulcers, red eyes, rashes, nail changes, difficulty swallowing, shortness of breath, or diarrhea? Is there true night pain that awakens the patient? If so, then evaluation for malignancies, infections and rheumatological diseases should be carried out.

    Red flags for potentially more serious disease includes:

    • Pain, persistent and localized
    • Pain and/or stiffness after inactivity such as after resting or in the morning
    • Pain at night not relieved by analgesics
    • Joint swelling, redness or stiffness
    • Muscle weakness
    • Weight loss or decelerating growth parameters
    • Fever, malaise
    • Trauma history
    • Abnormal laboratory testing
  • Is the problem affecting activities of daily living and functioning? Is the problem just bothersome or the child limps or refuses to walk or cannot eat, brush their teeth or write?
  • Does the young child have non-specific symptoms? As young children cannot communicate verbally they may refuse to use a limb, adopt strange posture, be irritated, cry, whine or just act abnormally. This may indicate a joint problem.

Many but not all children do not require laboratory evaluation as history and physical examination will usually provide a likely cause. As with any test, one should ask “How will this test’s results alter the evaluation, treatment or outcome?” before ordering a test. Children with a history of suspected potential trauma, or persistent localized pain often will have plain radiographs of the area. Other radiological testing (e.g. magnetic resonance imaging) is usually a secondary test. Laboratory investigation is usually used when there is suspicion for infection, inflammation and malignant conditions and often include complete blood count with differential, lactate dehydrogenase, erythrocyte sedimentation rate and C-reactive protein and urinalysis. If these are completely normal, the probability of one of these rarer conditions is low. Autoimmune tests usually are not helpful in the initial evaluation for joint pain and can lead to false positives.

Learning Point
Many other cases involving rheumatological and orthopaedic problems can be reviewed here

The differential diagnosis of joint pain includes:

  • Trauma
    • Fractures
    • Soft tissue injuries
    • Non-accidental trauma
    • Overuse injuries
  • Orthopaedic
    • Osteochrondrosis
      • Kohler disease
      • Legg-Calve-Perthes disease
      • Osgood-Schlatter disease
  • Miscellaneous
    • Clubfoot
    • Compartment syndrome
    • Developmental dysplasia of the hips
    • Leg length discrepancies
    • Osteochondritis dessicans
    • Slipped capital femoral epiphysis
    • Scheuermann’s disease
    • Synovitis
    • Spondylolisthesis/lysis
  • Hypermobility
    • Benign hypermobility syndrome
    • Syndromes associated with hypermobility
    • Down syndrome
    • Ehlers-Danlos syndrome
    • Marfan syndrome
    • Noonan syndrome
  • Infection
    • Discitis
    • Gonococcus
    • Osteomyelitis
    • Psoas abscess
    • Rubella
    • Septic arthritis
    • Soft tissue infections
    • Viral arthritis – is acute, involving small joints that are symmetrical and not involving the axial skeleton
  • Rheumatological/inflammatory
    • Juvenile idiopathic arthritis (JIA)
    • Oligoarticular is chronic, mainly involving large joints that are asymmetric and usually does not involve the axial skeleton
    • Polyarticular is chronic, involves small and large joints that are symmetrical or asymetric and usually does not involve the axial skeleton
    • Systemic lupus erythematosus is chronic involving the small joints that is symmetrical and doesn’t involve the axial skeleton
    • Ankylosing spondylitis
    • Autoinflammatory syndrome
    • Chronic recurrent multifocal osteomyelitis
    • HLA-B27 arthropies
    • Inflammatory bowel disease
    • Juvenile dermatomyositis
    • Mixed connective tissue disease
    • Psoriatic arthritis is chronic and involves both large and small joints that is usually asymmetrical and may involve the axial skeleton
    • Sarcoidosis
    • Vasculitis
      • Henoch-Schonlein purpura
      • Multisystem inflammatory system disease in children due to novel Coronavirus 19
    • Post-infectious arthritis including mycoplasma, yersinia, meningococcus
    • Acute rheumatic fever is acute and may be migratory, involving large joints that are asymmetrical and usually not involving the axial skeleton
    • Lyme disease
    • Reactive arthritis including transient synovitis is acute involving large joints that are asymmetrical and may or may not involve the axial skeleton
  • Hematological/Neoplastic
    • Bleeding diathesis
    • Hemoglobinopathies
    • Thalassemia
    • Benign tumors
      • Bone cyst
      • Chondroblastoma
      • Osteoblastoma
      • Osteoid osteoma
    • Malignant solid tumors
      • Ewing’s sarcoma
      • Osteosarcoma
      • Histiocytosis
      • Neuroblastoma
    • Malignant hematological tumors
      • Leukemia
      • Lymphoma
  • Idiopathic
    • Benign nocturnal leg pain = “growing pains” are intermittent, generalized pain in the bilateral lower extremities that occurs during the later afternoon or evening (not during the night) in children up to puberty that has a normal physical examination otherwise
    • Complex regional pain syndrome
    • Fibromyalgia
  • Metabolic
    • Fabry disease
    • Hypercortisolemia
    • Hyperthyroidism
    • Hyperparathyroidism
    • Hypophosphatasia
    • McCune-Albright syndrome
    • Rickets
  • Psychological
    • Factitious disorder
  • Other
    • Serum sickness
    • Muscle cramps
    • Reflex sympathetic dystrophy

  • Common joint problems by age includes:
    • All ages
      • Trauma including non-accidental trauma
      • JIA
      • Infection
      • Malignancy
    • < 3 years old
      • Developmental dysplasia of the hip
      • Toddler’s fracture
      • Transient synovitis
    • 3-10 years old
      • Benign nocturnal leg pain = “growing pains”
      • Hypermobility associated pain
      • Perthe’s disease
      • Transient synovitis
    • 11-18 years
      • Complex regional pain
      • Hypermobility associated pain
      • Idiopathic pain syndromes
      • Osteochondrosis
      • Slipped capital femoral epiphysis

    Questions for Further Discussion
    1. What is the Beighton score and how do you do it? A review can be found here
    2. What causes leg pain? A review can be found here
    3. What are indications for advanced radiological imaging such as an magnetic resonance imaging or nuclear medicine testing?

    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 and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Joint Disorders and Leg Injuries and Disorders.

    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.

    Sen ES, Clarke SLN, Ramanan AV. The child with joint pain in primary care. Best Pract Res Clin Rheumatol. 2014;28(6):888-906. doi:10.1016/j.berh.2015.04.008

    Balan S. Approach to Joint Pain in Children. Indian J Pediatr. 2016;83(2):135-139. doi:10.1007/s12098-015-2016-8

    Marrani E, Maccora I, Giani T, Simonini G, Cimaz R. Joint pain management in children and adolescents. Minerva Pediatr. 2018;70(1):79-97. doi:10.23736/S0026-4946.17.05137-4

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