I am blue: a toddler’s Raynaud’s phenomenon

Abstract

Raynaud’s phenomenon (RP) is a well-known disorder of self-limiting paroxysmal vasospasms occurring in small arteries of the digits, in the order of skin pallor (white), followed by cyanosis (blue), ending with hyperemia (red). These designative triphasic colour changes with exposure to cold, or emotional response is diagnostic in adults. RP is a very rare phenomenon in the young paediatric population as noted by Nigrovic et al with 123 patients <19 year old in a large children’s centre over 10 years and only 4 patients being <2 years old, with 69% of these being primary RP. To our knowledge, this is the youngest documented case of Raynaud’s disease that has not required treatment.

Background

Raynaud’s phenomenon (RP) is a well-known disorder of self-limiting paroxysmal vasospasms occurring in small arteries of the digits, in the order of skin pallor (white), followed by cyanosis (blue), ending with hyperemia (red). RP is a very rare phenomenon in the young paediatric population as noted by Nigrovic et al and considerations of serious illnesses in extremely young patients might alarm providers, resulting in transfers to larger institutions as with our patient or unnecessary extra testing due to extreme young age.¹ This case provides guidance with the young age child, supporting outpatient workup if applicable.

Case presentation

A previously healthy 17-month-old girl presented to a free-standing community emergency department (ED) for intermittent bluish discolouration of hands and feet that started 1 week ago in the winter. Parents noted with each episode of colour change, it seemed to be getting progressively worse, lasting hours long on the day of presentation. These episodes would get worse with cold exposure. No blue change to her lips or difficulty breathing was noted during the episodes. The toddler was not bothered by this, still using her hands and feet as usual, without pain or pruritus.

Parents denied changes in activity, in weight, appetite, recent injury, fever, rashes, difficulty breathing, diarrhoea, sick contacts, recent illnesses or travel. Patient did not take any medications and immunisations were up to date. There was no concern for ingestion and there was second hand exposure to electronic cigarette smoke. On further questioning, the patient’s maternal grandmother and maternal great grandmother were both diagnosed with Raynaud’s disease at adult ages. There was no family history of other rheumatological diseases.

She was afebrile with reassuring vitals for age. Her physical examination was remarkable for acrocyanosis involving all of her fingertips, distal portions of both hands, all of her toes and both feet (figures 1–4). There was never any circumoral cyanosis. This was the classic triphasic white/blue/red textbook findings of hands and feet. The remainder of her examination was unremarkable, including good pulses in all four extremities, and her heart examination was regular with no murmurs noted.

Figure 1.

Fingertips with cyanosis (blue) at initial evaluation in the emergency department.

Figure 2.

Bilateral fingertips with cyanosis (blue).

Figure 3.

Toes with cyanosis (blue) at initial evaluation in the emergency department.

Figure 4.

Bilateral toes with cyanosis (blue) stage.

The community ED obtained baseline electrolytes and complete blood count. Due to the extremely young age, the patient was transferred to a paediatric tertiary care facility for a second opinion and further management.

Differential diagnosis

Having a wide differential due to the extreme young age was important. Other causes considered were hypoxemia, hypothyroidism, polycythemia, haematologic causes, toxicological causes and infectious causes like mycoplasma, which may cause autoimmune haemolytic anaemia.^2–6 The evaluation for these was normal including a renal function, venous blood gas and electrocardiogram. A urine drug screen including a gas chromatography coupled with mass spectrometry (GCMS) analysis was performed for consideration of multiple toxicological components, which was also negative. Haematological factors including direct antiglobulin test, haptoglobin and Lactate Dehydrogenase (LDH) were normal. Thyroid-stimulating hormone (TSH) was normal. Infectious causes including mycoplasma and Epstein-Barr virus (EBV) also resulted negative.

Other considerations of secondary Raynaud’s like systemic lupus erythematosus, Sjögren syndrome, scleroderma and dermatomyositis were brought to mind, however, given patient’s age and lack of pain or other secondary disease seemed less likely at the time.⁷

Outcome and follow-up

During her ED stay, the patient’s cyanotic bluish discolouration transitioned to bright red hyperemia in the toes and fingers (figures 5 and 6), and then slowly resolved, returning to baseline. She never exhibited discomfort, moving all fingers and toes during her stay. With all her labs being reassuring, she was discharged from the ED with follow-up instructed with a new diagnosis of RP.

Figure 5.

Fingers in hyperemia (red) stage.

Figure 6.

Toes in hyperemia (red) stage.

This toddler was diagnosed with primary RP given her classic physical examination, in addition to the extensive work up and setting of family history. Toddler age presentation is not common, so rheumatology follow-up was also given at discharge along with her paediatrician. Her evaluation by rheumatology is pending. Phone follow-up was performed by us 1 year after this ED presentation and the patient continues to do well.

Discussion

This case highlights the rare presentation of RP in a toddler age patient. Observation of the three classic phases accompanied with reassuring vitals, labs and examination findings ruled out all other causes. For facilities that do not have paediatric specialists, this could be an appropriate plan of care for extremely young children with this same presentation.⁸

Other secondary causes of RP like hypoxemia, hypothyroidism, metabolic causes; haematologic causes like polycythemia, rheumatologic disease, toxicological causes; infections such as mycoplasma causing autoimmune haemolytic anaemia should be considered in a young paediatric patient’s initial presentation with peripheral bluish discolouration.

This child has been doing well since discharge with no significant episodes since the visit to the ED when we followed up by phone. General paediatricians can follow these patients in an outpatient setting. In general, RP in toddlers are rare but does occur, highlighting that the classic findings and work up above are of reassurance in the diagnosis even at this young of age.

Learning points.

• Consideration of causes of secondary Raynaud’s phenomenon at an extremely young age may be needed on initial visit.

• Observation of the three classic phases and return to baseline accompanied with reassuring vitals, labs and examination findings could be an appropriate plan of care for outpatient follow-up even in the extremely young age.

• General paediatricians can also follow these patients in outpatient clinic and refer to a specialist when necessary.

Ethics statements

Patient consent for publication

Parental/guardian consent obtained.