Fig. 7.1
Vasculitis lesions on hands/toes: A 12-year-old girl presented with rash on her hands, feet, and ear lobes associated with recent-onset cold extremities and biphasic color change. She had an 8-week history of fatigue, fever, and weight loss. She had normal nailfold capillaries but with vasculitic purpuric rash on nearly all of her fingers with dusky appearance, sluggish capillary refill, and a vasculitic discoloration under the nail beds with normal peripheral pulses. Investigations confirmed a diagnosis of C1q deficiency and JSLE associated with systemic vasculitis (see section “Case 1”)
Fig. 7.2
Ischemic fingers and abnormal NFC: A 5-year-old girl presented acutely with digital ischemia affecting her finger (left-hand panel) with a background history of 2 months of Raynaud’s symptoms, lethargy, and weakness. She responded well to 5-day intravenous iloprost, analgesia, and antibiotics with no tissue loss. She was ANA positive (titer 1:640, nucleolar pattern) with negative ENA and dsDNA panel. NFC (right-hand panel) showed some dilated capillaries and areas of hemorrhage. A diagnosis of systemic sclerosis with myositis overlap was made based on skin thickening, abnormal capillaroscopy, raised muscle enzymes, and MRI findings in keeping with myositis
Patients with primary RP benefit from education and non-pharmacological control measures while those with secondary RP more often require drug therapy. Long-acting CCBs are the most commonly used first-line drugs for RP in children. Severe or critical digital ischemia requires immediate evaluation to identify reversible vascular and coagulation defects and aggressive intervention with vasodilatory therapies to restore blood flow. As for adult patients, consideration should be given to pain control and treatment of secondary infection.
The complexity involved in conducting clinical trials in pediatric patients and the lack of standard outcome measures for RP remain a challenge to investigators. However, advances in the understanding of the pathogenesis of RP and the recent clinical trials in adults continue to improve outcomes, particularly for those with severe disease. The lack of pediatric data for newer drugs limits the availability of these therapies in clinical practice because of lack of pediatric licensing. Extrapolation from adult studies is not a substitute for robust pediatric clinical trials which are much needed in both primary and secondary RP.
Case 1
A 13-year-old girl presented with triphasic color change in her hands associated with pain and stiffness. Exacerbations were triggered by cold, wind, or changes in temperature. This was affecting her function, in particular her writing ability at school and her performance as a dinghy sailor. She had felt a little more fatigued recently and apart from some mild periungual erythema, there were no other features suggestive of an underlying CTD on history or examination. Full blood count, ESR, and thyroid function tests were normal and ANA was positive 1:160. ENA screen and anti-dsDNA were all negative. NFC was normal and she had some delayed re-warming on cold challenge thermography (Fig. 7.3). A diagnosis of primary RP (but with positive ANA) was made. The patient and family were educated about RP and non-pharmacological measures were introduced. However, her symptoms continued to impact on her function and she was started on oral amlodipine with good result, allowing her to continue to compete in her sport. Over several years of follow-up she remained otherwise well with no change in either NFC or autoantibody profile.
Fig. 7.3
Normal nailfold capillaroscopy (upper panel), thermograms showing cold fingers at 23 °C (middle left) but which warmed at 30 °C (middle right), and re-warming curves after a cold challenge, showing delayed but complete re-warming (lower panel). These capillaroscopy and thermography findings are consistent with a diagnosis of primary RP
References
1.
LeRoy EC, Medsger Jr TA. Raynaud’s phenomenon: a proposal for classification. Clin Exp Rheumatol. 1992;10(5):485–8.PubMed
2.
3.
Pavlov-Dolijanovic S, Damjanov N, Ostojic P, Susic G, Stojanovic R, Gacic D, et al. The prognostic value of nailfold capillary changes for the development of connective tissue disease in children and adolescents with primary Raynaud phenomenon: a follow-up study of 250 patients. Pediatr Dermatol. 2006;23(5):437–42.PubMedCrossRef
4.
Piotto DG, Hilario MO, Carvalho NS, Len CA, Andrade LE, Terreri MT. Prospective nailfold capillaroscopy evaluation of Raynaud’s phenomenon in children and adolescents. Acta Reumatol Port. 2013;38(2):114–21.PubMed
5.
6.
7.
8.
Sharathkumar AA, Castillo-Caro P. Primary Raynaud’s phenomenon in an infant: a case report and review of literature. Pediatr Rheumatol Online J. 2011;9:16.PubMedCrossRefPubMedCentral
9.
Shouval DS, Mukamel M, Zulian F, Amir J, Harel L. Iloprost treatment for refractory Raynaud’s phenomenon in two infants. Clin Exp Rheumatol. 2008;26(3 Suppl 49):S105–7.PubMed
10.
11.
Russo RA, Katsicas MM. Clinical characteristics of children with Juvenile Systemic Sclerosis: follow-up of 23 patients in a single tertiary center. Pediatr Rheumatol Online J. 2007;5:6.PubMedCrossRefPubMedCentral
12.
Scalapino K, Arkachaisri T, Lucas M, Fertig N, Helfrich DJ, Londino Jr AV, et al. Childhood onset systemic sclerosis: classification, clinical and serologic features, and survival in comparison with adult onset disease. J Rheumatol. 2006;33(5):1004–13.PubMed
13.
Hawley DP, Baildam EM, Amin TS, Cruikshank MK, Davidson JE, Dixon J, et al. Access to care for children and young people diagnosed with localized scleroderma or juvenile SSc in the UK. Rheumatology (Oxford). 2012;51(7):1235–9.CrossRef
