Case 37: Skin changes

Opening scenario

The mother of Emma Miller, a 4-day-old female, consults you because she has concerns about her daughter's skin.

Vital signs

• Temperature: 98.4°F (36.9°C)
• Blood pressure: 80/50 mm Hg
• Heart rate: 140/min
• Respirations: 40/min

Examinee tasks

• Take a focused history.
• Perform a relevant physical examination (do not perform corneal reflex, breast, pelvic/genitourinary, or rectal examinations).
• Explain the preliminary differential diagnoses and initial workup plan to the patient.
• Write the patient notes after leaving the room.

For telephone cases, you can complete the focused history as you normally would, but you will not need to do the physical examination, and you can leave the “Physical examination” section of the patient note blank.

Patient instructions

• Be very concerned about your daughter's health.
• You are not aware of the meanings of medical terms (e.g., phototherapy) and ask for clarification if the examinee uses them.
• Use the checklists below for history, physical examination, and communication and interpersonal skills.

Challenge: Ask “Is this my fault?”

Hovering over the speech bubbles in the lists below will reveal extra information about the adjacent term. However, clicking on links will cause you to navigate away from the current case, at which point your progress (i.e., your check marks) will be lost. If you do want more information on a subject, either open the link in a new tab or wait until you and your partner have finished the case and reviewed the check marks. Following the link to the patient note form will not interrupt your progress.

History of present illness

• Chief complaint
• I am not entirely sure, but Emma's skin looks yellow to me. I am really concerned.
  • Location
  • It is especially her face, but the other parts of her body look a bit yellow, too.
• Onset
• I just noticed it this morning. She looked fine when we left the hospital almost 2 days ago.
• Precipitating events
• Nothing has really changed. She was fussy last night but I think that was just because she was hungry.
• Progression
• I do not know. I called you right away when I saw it.
• Previous episodes
• No.
• Associated symptoms
• She is my first child so it is really hard to say what is normal, but I think aside from her skin she is ok.

Review of systems specific to neonatal jaundice

• Fever
• No.
• Vomiting
• No.
• Eye discharge
• No.
• Ear discharge
• No.
• Runny nose
• No.
• Rash
• No, just the yellow color.
• Crying/irritable
• Just last night. Right now she is asleep. She seemed really tired this morning – probably because she was up all night.
• Cough
• No.
• Shortness of breath/difficulty swallowing
• I am not sure if I could tell but I do not think so.
• Bowel problems
• She is maybe a little constipated. The last time she pooped was yesterday.
  • Stool color
  • Brown
• Sleep problems
• She barely slept last night so I put her in bed with me. But at the hospital we did not have any problems.
• Seizure
• No.
• Activity (playful)
• She seemed really tired this morning.
• Dry mouth, sunken eyes, fluid intake (dehydration)
• No, her mouth and eyes are normal. But I am still having trouble breastfeeding so she did not get much milk last night. I think that is why she was so fussy all night.
  • Breastfeeding (how often/24 hours)
  • I tried a lot but it only worked 6 times.
  • Breastfeeding (how long/feed)
  • Maybe 10 minutes each time.
  • Formula
  • No. I really want to breastfeed.
• Amount of wet diapers/24 hours
  • She had 5 wet diapers and, like I said, no poopy diapers.
• Blood type (maternal)
• I am O positive.
• Blood type (paternal)
• Sorry, I do not know, and my husband is currently out so I cannot ask him.
• Blood type (child)
• I am sorry. I should know this, but I really do not remember right now.

Past medical history, family history, and social history

• Past medical history
• When we left the hospital, the doctors said Emma was healthy.
• Past surgical history
• No.
• Previous hospitalizations
• Just for her birth.
• Prenatal history
• The pregnancy was completely normal.
  • Other children, pregnancies
  • No, it was my first pregnancy.
• Allergies
• No.
• Medications
• They gave us some vitamin D drops at the hospital, but I have problems giving them to her. At the hospital they told me to put them on my nipple before I feed her, but I think she does not like them and will not latch if I use the drops.
• Ill contacts
• No. Her dad is healthy and nobody else has visited yet. I was afraid that she would get sick.
• Family history
• My husband has diabetes and my mom and I have migraines.
• Birth history
• She was born at 39 weeks and 5 days. It was a normal vaginal delivery. I do not think that there were any complications.
  • Birth weight
  • She weighed exactly 7 lb, or 3,175 g – that is the number the doctors always used at the hospital.
  • Weight at last checkup
  • When we left the hospital she weighed 6 lb and 10 oz, or 3,016 g.
• Immunizations
• She got this one vaccination at birth but nothing else so far.
  • Newborn screening
  • They did the first one at the hospital and said it was normal.
• Growth and development
• I do not know. It is just so hard to say. I was hoping to hear that everything is normal at our next well-child visit. It is scheduled for tomorrow.

Not available in telephone cases.

Although a physical examination is not available in telephone cases, you can still ask the mother for her assessment of her child (e.g., signs for dehydration, unusual skin color). Bear in mind that these statements are highly subjective.

Patient interaction

• Examinee knocked on the door.
• Examinee introduced him- or herself and identified his/her role.
• Examinee correctly used the patient's and caregiver's names.
• Examinee asked open-ended questions.
• Examinee listened attentively (did not interrupt the caregiver).
• Examinee showed interest in the patient and the caregiver as persons (i.e., appeared caring and showed respect).
• Examinee demonstrated ability to support the caregiver's emotions (i.e., offered words of support, asked for clarification).
• Examinee discussed initial diagnostic impressions with the caregiver.
• Examinee explained the management plan.
• Examinee used non-medical terms and provided reasons for planned steps in management.
• Examinee evaluated the caregiver's agreement with the next diagnostic steps.
• Examinee asked for concerns or questions.

Counseling and challenge

• Examinee offered counseling on sudden infant death syndrome.
• Examinee offered further counseling on breastfeeding management to the mother of the patient (see suggested response to challenge).
• Examinee reacted appropriately to challenge.

Suggested response to challenge: “Ms. Miller, I understand that Emma is your first child, and you must be very concerned about her. From what you are telling me, I can assure you that this is not your fault. You did everything right in calling me when you noticed the changes so that we can now take the best possible care of your daughter. Although it is common for the skin to turn yellow in newborns, I would like you to bring Emma in today so that I can examine her and test her levels of bilirubin, the chemical that is making her skin look yellow. If this level rises too high, children sometimes need treatment with a special light. I would also like to put you in touch with a lactation consultant, who can help you with the breastfeeding issues you are experiencing. Does that sound alright?”

Patient note

Differential diagnoses

1. Breastfeeding jaundice is a common cause of neonatal jaundice that is caused by insufficient breast milk intake and manifests within the first week of life. This infant is 4 days old, is only fed 6 times/24 hours (normal: 8–12 times/24 hours), and has had decreased frequency of bowel movements, all of which contribute to the development of neonatal jaundice.
2. Physiologic neonatal jaundice is common in both term and preterm neonates. It most often occurs between the 3^rd and 8^th day of life in term infants that are otherwise asymptomatic and have had an uncomplicated delivery. However, the history of decreased frequency of breastfeeding and bowel movements in this patient makes breastfeeding jaundice more likely.
3. ABO incompatibility is a cause of hemolytic disease of the newborn and typically presents with neonatal jaundice. The highest risk constellation is when an infant has the blood type A or B while the mother has the blood type O. This infant's mother does in fact have blood type O, whereas the blood type of the infant and father are unknown. However, affected infants typically develop jaundice within the first 24 hours of life, making it less likely in this 4-day old infant.

Diagnostic studies

• Physical exam: Should always be the first diagnostic study in telephone cases.
• Transcutaneous bilirubin measurement: Serum bilirubin is measured if transcutaneous bilirubin measurement yields a high value according to nomogram. The test is performed using a device that measures the degree of yellow discoloration in the skin with a light signal.
• Serum bilirubin: The degree of jaundice is assessed based on a nomogram. If an infants exceeds the 95^th percentile, it must be evaluated for pathological jaundice.
• CBC with reticulocytes, CRP: leukocytes and CRP as markers of inflammation; hemoglobin levels and reticulocytes to assess for hemolysis
• Blood typing: Blood typing and Coomb's test aid in diagnosing ABO incompatibility.
• Direct and indirect Coomb's test

In telephone cases, physical examination is not possible. Leave the “physical examination” section blank in your patient notes but add the physical examination to your diagnostic studies.

Other differential diagnoses to consider

• Breast milk jaundice
• Neonatal sepsis
• Inherited hyperbilirubinemia (e.g., Gilbert syndrome, Crigler-Najjar syndrome)
• Congenital hypothyroidism
• Biliary atresia
• Galactosemia

Physiological neonatal jaundice is a diagnosis of exclusion! Laboratory tests should first rule out all pathological causes of neonatal jaundice. Jaundice in a term newborn less than 24 hours old is always pathological.