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A Case-Control Study of the Lymphatic Phenotype of Yellow Nail Syndrome

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A Case-Control Study of the Lymphatic Phenotype of Yellow Nail Syndrome LYMPHATIC RESEARCH AND BIOLOGY Volume 16, Number 4, 2018 Original Articles ª Mary Ann Liebert, Inc. DOI: 10.1089/lrb.2018.0009 A Case-Control Study of the Lymphatic Phenotype of Yellow Nail Syndrome Emma Cousins, MSc,1 Viviana Cintolesi, PhD, MD,1 Laurence Vass, BSc,2 Anthony W.B. Stanton, PhD, MB BCh,1 Andrew Irwin, PhD,2 Susan D. Heenan, MA, FRCP, FRCR, MSc,3 and Peter S. Mortimer, MD, FRCP1,4 Abstract Background: Yellow nail syndrome (YNS) is a rare disease manifesting as a triad of yellow–green dystrophic nails, lymphedema, and chronic respiratory disease. The etiology of YNS is obscure and investigations are few. A single lymphatic pathogenesis has been proposed to account for all the associated features, and despite the lack of evidence for a unifying lymphatic mechanism, this hypothesis prevails. The objective was to explore the lymphatic phenotype in YNS and to establish whether lymphatic dysfunction could be a major contributing factor to the disease process. Methods and Results: Four-limb lymphoscintigraphy was performed on patients with YNS and on healthy, age- matched controls. All 17 patients had lower limb swelling, and 14 (82%) had upper limb swelling also, including 5 (29%) with hand involvement. None of the YNS lymph scans was completely normal. Combined qualitative and quantitative assessment showed that 67% of YNS scans were clearly abnormal compared with 36% of healthy control scans. Mean axillary and ilio-inguinal nodal tracer uptakes were 41%–44% lower in the YNS group than in the controls ( p < 0.0001). Conclusions: YNS is a lymphatic phenotype because lymphatic insufficiency was found to exist in all patients and the insufficiency was widespread (upper and lower limbs), with a common mechanistic fault of poor transport. The origin of the lymphatic fault is unclear. In healthy individuals, lymphatic abnormalities may be relatively common in the fifth decade of life onward. Keywords: lymphatic dysfunction, lymphedema, lymphoscintigraphy, phenotype, yellow nail syndrome Downloaded by 23.31.64.25 from www.liebertpub.com at 09/04/18. For personal use only. Introduction reported and some with a family history.8–12 The pathophys- iological basis of YNS is obscure and investigations are few. amman and White originally described the ‘‘yellow nail’’ The presence of lymphedema provides strong grounds for Ssyndrome in 1964, the main features being slowly growing considering YNS to be a lymphatic phenotype and despite the discolored (pale yellow to green) nails and edema.1 The as- lack of evidence, a unifying lymphatic mechanism is often sociation of respiratory disease such as bronchiectasis, pleural assumed. One study investigating lymphatic involvement in effusions, or chronic sinusitis, was later recognised.2–6 Diag- YNS using the now obsolete direct contrast lymphangiography nosis can be difficult because the clinical features do not ap- identified abnormalities in four patients.1 Lymphoscintigraphy pear at the same time and can improve spontaneously. Yellow is still the gold standard method for lymphatic investigation in nail syndrome (YNS), while rare with fewer than 400 cases humans. Bull et al. performed lymphoscintigraphy on 17 YNS reported in the literature, is a debilitating condition that can patients, all with nail abnormalities, the majority with respi- cause premature death.6,7 YNS is cited in the Online Mende- ratory disease and two-thirds with lower limb swelling.13 lian Inheritance in Man genetics database (OMIM) as a genetic Reduced upper and lower limb lymph drainage (with some disorder (OMIM 153300). Cases are typically sporadic and variation) was found, relative to the normal controls. The affect adults later in life; however, congenital cases have been control group consisted of the clinically normal limbs of 1Molecular and Clinical Sciences Research Institute (Dermatology Unit), St George’s, University of London, London, United Kingdom. Departments of 2Medical Physics and Clinical Engineering, 3Radiology, and 4Dermatology, St George’s University Hospitals NHS Foundation Trust, London, United Kingdom. 340 A CASE–CONTROL STUDY OF YELLOW NAIL SYNDROME 341 patients rather than healthy participants. The authors proposed Lymphoscintigraphy that any lymphatic insufficiency was functional and inconsis- Four-limb lymphoscintigraphy was performed according tent with the conventional understanding of lymphedema. to standard local procedure. 99mTc-Nanocoll (0.2 mL, The study’s aim was to explore the lymphatic pheno- 25 MBq; GE Healthcare, Little Chalfont, Buckinghamshire, type in YNS and to establish whether lymphatic dysfunc- United Kingdom) was injected subcutaneously into the web tion identified by lymphoscintigraphy could be a major space between the first and second metacarpophalangeal contributing factor to the disease process, and not simply a joints of each hand and between the first and second toes of secondary phenomenon. We assessed lymph drainage in each foot. Imaging was performed using a single head Argus the upper and lower limbs of carefully characterized YNS Epic gamma camera (MIC Ltd., Fleet, Hampshire, United patients relative to an age-matched, healthy volunteer group Kingdom; 128 · 128 matrix, low-energy general purpose col- in a case–control study. A secondary objective was to es- limator). Static images (2-minute acquisitions) of the hands tablish the prevalence of lymphatic abnormalities in heal- and feet were obtained immediately postinjection and at 1 thy, middle-aged to elderly controls for which there are no and 2 hours postinjection, and of the axillary and ilio-inguinal published data. lymph nodes at 2 hours postinjection. Dynamic whole body images were obtained at 15 minutes and 2 hours postinjec- tion. Participants were sitting for hand imaging and otherwise Materials and Methods supine. No exercise was performed. Two YNS scans and one Participants control scan were of insufficient quality and were excluded. Figure 2 shows whole-body images at 2 hours. Seventeen patients of mean age 64 years (confidence in- terval [CI]: 59–68 years, range 49–82 years), 7 men and 10 Quantitative analysis of lymph scans women, with a diagnosis of YNS were recruited from St George’s University Hospitals NHS Foundation Trust, Regions of interest were drawn around the regional lymph London; Cheltenham General Hospital, Cheltenham; nodes and depots. Lymphatic function was assessed quanti- Lytham Hospital, Lytham St Anne’s, Lancashire; Oxford tatively as the regional nodal uptake at 2 hours. Nodal uptake University Hospitals NHS Foundation Trust, Oxford; Royal was the nodal activity expressed as a percentage of the ac- Brompton Hospital, London; Royal Derby Hospital, Derby; tivity in the hand or foot depot postinjection, corrected for Royal Hampshire County Hospital, Winchester; Parkside radioactive decay. Reduced lymph transport was assumed if Hospital, Wimbledon, London; University Hospitals Bristol <3% of the injected radioactivity is present in the axillary NHS Foundation Trust (Bristol, United Kingdom). Diagnosis nodes and <8% in the ilio-inguinal nodes at 2 hours, thresh- of the syndrome was made by the consultant skin or chest olds obtained from normative patient data and used in lymph physician, but this was confirmed by clinical assessment. scan assessment at St George’s Hospital and elsewhere.16 Fifteen healthy controls aged 65 years (CI: 58–72 years, Image analysis was performed independently by two opera- range 44–82 years), 7 men and 8 women, were also recruited. tors to verify the nodal uptake values. The controls were spouses or friends of the patients and had no history of limb swelling, abnormal nails, chronic respi- Combined qualitative and quantitative ratory disease, or venous disease. The study was approved by assessment of scans the Research Ethics Service of the Health Research Authority The scans were inspected independently by two consul- of the United Kingdom (reference number 12/LO/1330) and tants blinded to participant status. Abnormal morphological the procedures followed were in accordance with the ethical features were (1) reduced regional node and lymphatic tract standards of the responsible committee and with the De- imaging (delay), in advanced cases functional aplasia (no claration of Helsinki. The use of the radiopharmaceutical was imaging of tracks and nodes) or functional hypoplasia (very Downloaded by 23.31.64.25 from www.liebertpub.com at 09/04/18. For personal use only. approved by the Administration of Radioactive Substances weak imaging of tracks and nodes), at 2 hours; (2) imaged Advisory Committee (ARSAC) (295/3230/29476). All par- popliteal nodes, indicating lymph diversion via the subfascial ticipants gave written informed consent. (deep muscle) system; and (3) dermal backflow (rerouting through the skin). Scans were assessed as either clearly ab- Clinical assessment normal (major morphological abnormality and reduced re- gional nodal uptake in the same limb), indeterminate (either a A detailed history was taken to ascertain the YNS symp- major morphological abnormality with normal uptake or toms, when they had first occurred, their duration, whether normal morphology with reduced uptake), or normal (normal remission had occurred, what treatments had been given, and morphology and normal uptake). These outcome measures whether other conditions such as venous disease could ac- were considered the most discriminating and in line with count for the edema. The nails were assessed for slow growth, recently published criteria.16 transverse overcurvature, thickening,
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