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.

Discussion
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

Author
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.

Discussion
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

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

  • How are Personality Disorders Clustered?

    Patient Presentation
    A 15-year-old male came to clinic for his health supervision visit. He was known to be a high achiever in school and his mother expressed pride in his academic accomplishments. However, since starting 10th grade, he had stopped his sports and music activities stating he wasn’t as good at them, and wanted to “concentrate on what I’m good at.” He had continued math team and an academic knowledge team. His mother said that he was spending more and more time by himself everyday studying for math and knowledge competitions. “And I have to do that so I can win them. Remember last time I was only 5th place,” he interrupted. “But you’re also not sleeping or eating well and I’m worried about you,” she countered.

    The past medical history showed that he was identified for the school’s gifted and talented program in first grade and had been involved with competitive soccer, swimming and had been taking private music lessons since age 5. These activities had stopped over the past year.

    The pertinent physical exam showed a thin male with normal vital signs and his weight was 50% and tracking for age. He examination was normal and he had Tanner IV genitalia. The diagnosis of of a teen with concerning behaviors was made.

    In a private interview with the adolescent, he acknowledged that he had stopped the activities because he felt he “had to get perfect grades,” and “had to win the competitions.” He would go to bed at night but then set an alarm to wake up in the middle of the night to do more studying and math problems or general knowledge quizzes. His friend group had diminished to only a few people but he interacted with them only at club meetings and would be studying during lunchtime at school. He said it really bothered him when he got any homework or math problems wrong. He talked about his study schedule and how he had it organized to the minute using a calendar tool and timer on his phone. He organized his books and pens/pencils on his desk before starting his work and would re-organize them several times while working. “If I don’t organize it, it really bothers me and I can’t get anything done until I get my highlighters and pens in order and check the timer,” he noted. The teen said that he did feel some pressure from his parents to perform, but most of what he did, he felt he had to do because of himself. The pediatrician was concerned about his perfectionistic tendencies along with what might be compulsions with his schedule and tools. He also seemed to be becoming more obsessed with his homework and math competitions and was becoming more isolated. The pediatrician was concerned for a possible obsessive-compulsive disorder. The teen agreed that he was having more anxiety if he couldn’t adhere to his schedule and therefore he was becoming less efficient. He also agreed that he missed spending time with some of his friends. After discussion with the parent and patient, the teen agreed to see a counselor who could help him to continue to achieve his goals but to help him learn to do it in a way that would let him see his friends, and do other activities he might want to do. At 6 month follow up, he was seeing a therapist but was still struggling.

    Discussion
    Personality traits (PT) represent patterns of thinking, perceiving, reacting, and relating that are relatively stable over time. There are 5 major PT:

    • Extraversion (e.g. tendency to be sociable)
    • Neuroticism (e.g. susceptibility to negative thoughts and distress)
    • Conscientiousness (e.g. self-regulation and being able to look at long term goals)
    • Agreeableness (e.g. self-regulations and relationship maintenance)
    • Openness to experience (e.g. imaginative, creative, curiosity).

    Personality disorders (PD) occur when these personality traits become so conspicuous, rigid and maladaptive that they cause impairment in life and work. PDs are “enduring patterns of inner experience and behavior that deviates markedly from the expectations of the individual’s culture, with onset in early adulthood, leading to pervasive, stable and inflexible behavior over time, and causing stress or impairment.” PDs classification is evolving and the DSM-V currently has 10 different ones.

    PDs have a prevalence in the US of ~9% in adults. They are highly co-morbid conditions (~40-80%) with other mental illness especially with major depressive disorder. People with PDs have more social dysfunction and an increased risk of disability including risky sexual behavior, violence, suicide and problems in school, work and relationships.

    Diagnosis includes that the traits are persistent, maladaptive and involve at least two areas of functioning including affectivity, cognition, impulse control, and interpersonal functioning. There must also be significant impaired functioning or distress caused by the maladaptive traits, and the traits must be relatively stable with onset at least by adolescence or early adulthood. PDs are generally not diagnosed in children and youth < 18 years but can be if present for more than 1 year.
    An adolescent study found that PD prevalence is estimated at 6-17% with median of 11%. PT do vary over time and are considered moderately stable by adolescence. The stability of PD diagnosis in adolescence though is modest. However the more persistent the PD symptoms, the more likely the patient is to have impairment in adulthood.

    Learning Point
    PDs are grouped based on similar characteristics but if these clusters are clinically useful has not been established. While patients should be considered as individuals, an aide-memoire for remembering the clusters is: Mad, Bad, Sad.

    • Cluster A are PDs where the patients are considered eccentric or odd.
      • Paranoid – distrusts and is suspicious, intentions of others are interpreted as malevolent
      • Schizoid – disinterested in other people, has perceptual or cognitive distortions
      • Schizotypal – has eccentric behavior and ideas, social relationships are detached and have limited range of emotions
    • Cluster B are PDs where patients are characteristically emotional, dramatic or erratic. Is characterized by appearing dramatic, emotional, or erratic.
      • Antisocial – has marked disregard for others, is socially irresponsible, will manipulate and be deceitful of others for personal gain
      • Borderline – has intolerance of being alone and has emotional dysregulation, marked impulsivity, unstable self image and relationships
      • Histrionic – seeks attention
      • Narcissistic – here is overt grandiosity with a fragile self-esteem and/or underlying dysregulation, lacks empathy, needs admiration
    • Cluster C are PDs where the person is anxious or fearful.
      • Avoidant – very sensitive to rejection so will avoid interpersonal contact, feels inadequate, socially inhibited
      • Dependent – is submissive, and needs others to take care of them, clingy behaviors
      • Obsessive-compulsive – can be rigid, have obstinacy and perfectionism, must have order and control

    In a study of adults within a primary care setting, the most common PDs in order were borderline PD, dependent PD, obsessive-compulsive PD, and unspecified PD.

    Questions for Further Discussion
    1. What are psychoses and how common are they in the pediatric population?
    2. What are the diagnostic criteria for different depressive illnesses?
    3. How are personality disorders treated?

    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: Personality Disorder and Topics.

    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.

    Shiner RL. The development of personality disorders: Perspectives from normal personality development in childhood and adolescence. Development and Psychopathology. 2009;21(3):715-734. doi:10.1017/S0954579409000406

    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. Fifth Edition (DMS-5). Washington, DC: American Psychaitric Association; 2013.

    Angstman KB, Seshadri A, Marcelin A, Gonzalez CA, Garrison GM, Allen J-S. Personality Disorders in Primary Care: Impact on Depression Outcomes Within Collaborative Care. J Prim Care Community Health. 2017;8(4):233-238. doi:10.1177/2150131917714929

    Bach B, Sellbom M, Skjernov M, Simonsen E. ICD-11 and DSM-5 personality trait domains capture categorical personality disorders: Finding a common ground. Aust N Z J Psychiatry. 2018;52(5):425-434. doi:10.1177/0004867417727867

    Overview of Personality Disorders – Psychiatric Disorders. Merck Manuals Professional Edition. Accessed July 14, 2020. https://www.merckmanuals.com/professional/psychiatric-disorders/personality-disorders/overview-of-personality-disorders

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

    What are Potential Complications of Ichthyosis?

    Patient Presentation
    A 2-month-old male came to clinic for his health maintenance examination. The family needed some help with home health supplies and identifying some respite care. The past medical history was significant for epidermolytic ichthyosis diagnosed at birth but suspected as the father also had this problem. In the intensive care setting, he had blistering in various areas along with erythema and hyperkeratotic areas. He had some difficulty with feeding and was having problems with consistent weight gain and needed a high-caloric feeding regimen. He also had some problems with thermoregulation in the first few days of life and required 2 courses of antibiotics because of possible sepsis. He was tapering off pain medications.

    The pertinent physical exam showed a fussy infant with copious amounts of lubricant over his body. His weight was 4453g (5th %) and he was gaining 12 grams/day. He would calm more when not handled, would look around and seem curious. His skin showed a few scattered open blisters with healthy tissue that was not infected among the plaque-like scales. He had no contractures. The rest of his examination was normal.

    The diagnosis of epidermolytic ichthyosis with lower weight gain was made. The pediatrician reviewed the general home going plan with the family which included copious amounts of petroleum jelly to the skin and watching it closely. They were limiting his handling, including feeding him while he was propped up. They were monitoring him for potential infection and knew when to call dermatology for more help. He had a followup appointment with palliative care to continue to wean his pain medication. Infectious disease consultation had agreed that he should receive his regular vaccines at this time. The pediatrician offered to have his social worker meet with the family to discuss the supplies and respite care issues. “I know that palliative care can also help you with these problems, but my social worker can also help with coordinating your appointments and other help you may need in the future,” he stated. The mother stated that she would be very grateful for the help as a lot of his daily care was overwhelming her.

    The patient’s clinical course revealed that over the next 16 months, the blistering resolved. He still had a lot of hyperkeratotic scale. As he got older and the blistering improved, his need for pain medication decreased and his general disposition improved, although he still had problems with sleep. He received live-virus vaccines at appropriate intervals as he did not have open skin during those visits.

    Discussion
    Ichthyosis is a large group of dermatological disorders which are caused by abnormal epidermal differentiation. The term ichthys means fish and refers to the scale-like dermatological pattern seen in these disorders.

    Acquired ichthyosis is rare but more common in adults than children and has a rough, dry skin with prominent scaling, distributed symmetrically on the trunk and limbs (especially extensor surfaces), and is associated with autoimmune, infectious diseases, metabolic and malignant causes. Congenital or inherited ichthyosis is divided into non-syndromic (more common) and syndromic forms (generally very rare, e.g. Netherton syndrome or Sjogren-Larsson syndrome, Refsum syndrome, etc.). Specific diagnosis in the newborn period is not necessarily helpful, but with aggressive support, over time the specific clinical entity often becomes apparent. Treatment is also similar.

    Some examples include:

    • Ichthyosis vulgaris
      • Most common and mildest form
      • “…xerosis, scaling, pruritis and eczema, and it is strongly associated with atopic manifestations.” Back and lower legs are more affected.
      • Starts after 2 months of age, better in the summer
    • Recessive X-linked ichthyosis
      • Second most common
      • Dark brown scale on entire body
      • Starts around birth and does not improve with age
    • Harlequin ichthyosis
      • Autosomal recessive due to ABCA12 gene, very rare
      • Has thick, armor or plate-like scales which can cause contractures
      • Babies are often born premature
    • Collodion baby
      • Autosomal recessive – various genes
      • This includes several forms but has “…a shiny, taut, cellophane-like membrane”. The membrane is shed over time and the clinical manifestations of the specific entity become more apparent.
      • Babies are often born premature
    • Epidermolytic ichthyosis
      • Keratinopathic ichthyosis that is autosomal dominant due to KRT1 or KRT10 genes
      • Presents at birth with blistered or denuded skin but usually this diminishes and hyperkeratotic skin becomes more prevalent. The hyperkeratosis continues into adulthood.

    Learning Point
    The skin is a very important organ system, therefore complications of ichthyosis are because of the disruption of these vital functions:

    • Fluid and electrolyte balance maintenance
      • Ichthyosis has increased risk of water loss, dehydration and electrolyte imbalance
      • Treatment includes close monitoring of weight, input/outputs, electrolytes and replacement with fluids and electrolytes as appropriate.
        Nutrition consultation may be necessary because of increased metabolic needs
    • Barrier maintenance
      • Ichthyosis causes loss of barrier integrity (e.g. fissuring and denudation) including risk of infection and potential for absorption of substances, and can affect thermoregulation.
      • Treatment includes monitoring for infection and aggressive treatment for suspected infection, use of emollients to prevent barrier break down, minimal handling of patient/area, avoiding tape and using gauze or self-adherent wraps, avoiding topical substances which could lead to absorption to potentially toxic levels (e.g. silver sulfadiazine, salicylic acid, lactic acid, etc.), isolation of patient, and monitoring of temperature regulation and pain management
    • Movement
      • Ichthyosis can cause contractures of various body parts which can restrict chest wall/lung movement, sucking and feeding, joint contractures and compartment syndrome
      • Treatment includes emollients to promote resolution or improvement and flexibility of the skin, respiratory support, nutritional support including nasogastric feedings, consultation with appropriate surgical services such as orthopaedics or ophthalmology (contractures can cause ectropion of the eyes) and otolaryngology/dental (for contractures of the mouth or other head and neck organs).

    Questions for Further Discussion
    1. What else can be considered in the differential diagnosis of blistering skin lesions at birth?
    2. What are indications for a dermatology consultation? When would it be considered an emergency?

    Related Cases

      Symptom/Presentation: Rash

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Skin Conditions

    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.

    Craiglow BG. Ichthyosis in the Newborn. Semin Perinatol. 2013;37(1):26-31. doi:10.1053/j.semperi.2012.11.001

    Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. The Journal of Dermatology. 2016;43(3):242-251. doi:10.1111/1346-8138.13243

    Yoneda K. Inherited ichthyosis: Syndromic forms. The Journal of Dermatology. 2016;43(3):252-263. doi:10.1111/1346-8138.13284

    Glick JB, Craiglow BG, Choate KA, et al. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. 2017;139(1). doi:10.1542/peds.2016-1003

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