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Advances in dermatology and venereology Acta Dermato-Venereologica
Localized Scleroderma of the Head and Face Area: A Retrospective Cross-sectional Study of 96 Patients from 5 German Tertiary Referral Centres
Alexander KREUTER 1 *, Georg MITRAKOS 1, Silke C. HOFMANN 2, Percy LEHMANN 2, Michael STICHERLING 3, Thomas KRIEG 4, Nina LAHNER 5, Christian TIGGES 1, Nicolas HUNZELMANN 4 and Pia MOINZADEH 4
1
Department of Dermatology, Venereology, and Allergology, HELIOS St Elisabeth Hospital Oberhausen, University Witten-Herdecke,
2
Department of Dermatology, Allergology, and Dermatosurgery, HELIOS University Hospital Wuppertal, University of Witten / Herdecke, Departments of Dermatology, 3 Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, 4 University of Cologne, Köln, and 5 Ruhr-University, Bochum, Germany. * E-mail: alexander. kreuter @ helios-gesundheit. de Accepted Mar 1, 2018, Epub ahead of print Mar 2, 2018
Localized scleroderma( LS) is a relatively rare sclerotic auto immune disease that primarily affects the skin, but might also involve adjacent tissues, such as the fat tissue, fascia, muscle, and bone. A recently published European Dermatology Forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin includes a classification based on the current German guidelines for LS( 1, 2). This guideline distinguishes 5 main subtypes( limited, generalized, linear, deep, and mixed) and considers eosinophilic fasciitis as a separate type within the spectrum of LS( 2).
LS“ en coup de sabre”( LSECDS) and progressive facial hemiatrophy( PFH) are rare subtypes located on the head and face area, belonging to the group of linear LS. Although large studies already exist on the demographic characteristics and subtype distribution in both adult and juvenile LS, there are fewer data available on the clinical findings of LSECDS and PFH, especially in patients with adult-onset disease( 3). As neurological involvement and abnormalities in the central nervous system( CNS) are frequent in LSECDS and PFH, current guidelines recommend magnetic resonance imaging( MRI), irrespective of the presence of clinical symptoms( 1, 2). The purpose of this study was to evaluate clinical, radiological and laboratory characteristics in a large cohort of patients with LSECDS, PFH, or overlap of both diseases.
MATERIALS, METHODS AND RESULTS
A retrospective review was performed using the digital databases of LS patients with linear subtypes, such as LSECDS, PFH, or a combination of both types. A detailed description of the methodology is shown in Appendix S1 1.
A total of 96 patients with head and face LS was included in this retrospective analysis. Of these, 70 patients had LSECDS, 16 had PFH, and 10 overlapping LSECDS and PFH. The female to male ratio was 2.5:1, with 68 female patients( 25 girls and 43 adult women) and 28 male patients( 11 boys and 17 adult men). Mean ± standard deviation age at first diagnosis was 21.9 ± 16.4 years( range 1 – 68)( Table SI 1).
Of the whole cohort, 24( 25 %) patients presented extrafacial LS lesions at initial diagnosis. Extrafacial disease was more frequent in patients with PFH( 37.5 %) and LSECDS / PFH overlap( 40 %) compared with patients with LSECDS( 20 %). The most frequently affected site of extrafacial LS lesions was the trunk( 8.3 %), followed by the neck( 4.2 %)( Table SII 1).
1 https:// www. medicaljournals. se / acta / content / abstract / 10.2340 / 00015555-2920
MRI and computed tomography( CT) evaluations were available in 52( 54.2 %) of the 96 patients( Table SIII 1). Overall, 27( 28.1 %) of the cohort presented neurological symptoms and / or radiological CNS abnormalities. These abnormalities were most common in LSECDS / PFH overlap( 80 %), followed by PFH( 37.5 %) and LSECDS( 18.6 %). Headache( 5.2 %) was the most frequently presented symptom, followed by epilepsy( 4.2 %) and migraine( 3.1 %). Most frequent MRI and CT abnormalities were gliosis( 7.3 %) and white matter lesions( 6.3 %). Psychiatric symptoms were not observed in any of the patients.
Among the 96 patients, 14( 14.6 %) had other rheumatic diseases( 1 case of rheumatoid arthritis and 1 case of spondyloarthropathy) or other autoimmune disorders( 1 case each of lichen sclerosus, linear IgA-dermatosis, multiple sclerosis, primary biliary cholangitis, and systemic lupus erythematosus; 2 cases of alopecia areata; 5 cases of autoimmune thyroiditis). Overall, 73( 76.0 %) of the patients revealed blood parameters of autoimmunity( Table SIV 1). All 10( 100.0 %) patients with LSECDS / PFH overlap had at least 1 positive parameter( total: 18 parameters). The percentage of positive autoimmune parameters was similar in patients with LSECDS( 64.3 %) and PFH( 62.5 %). In the whole cohort, ANA were found most frequently( 27.1 %), followed by anti-smooth muscle antibodies( 11.5 %), and extractable nuclear antigens( 7.3 %). Serological screening for antibodies to Borrelia burgdorferi was performed in 70( 72.9 %) of the patients. Six( 6.25 %) of them had detectable IgM and IgG antibodies. However, there was no history of a tick bite or clinical symptoms of Lyme disease.
DISCUSSION
The demographics and subtype distribution of LS have been well described in several large cohorts, including 4 studies of adult-onset and 6 studies of juvenile LS( for review see Lis-Święty et al.( 3)). Linear LS is the most common subtype in children( 28.6 – 65 %), whereas it accounts for only approximately one-tenth of adult-onset cases( 7.1 – 13.8 %)( 4 – 7). There are limited data available on linear LS of the head and face area. To our best knowledge, only 2 comparable cohorts, including a large number of patients with LSECDS and PFH, have been published so far( 4, 8). Zulian et al.( 4) evaluated 113 patients( 99 with LSECDS, 8 with PFH and 6 with LSECDS / PFH overlap) by retrospectively collecting the data of 70 paediatric dermatology and rheumatology centres from all over the world. Doolittle et al.( 8) performed a retrospective single centre analysis over a 16-year interval and reported the CNS imaging findings of 88 patients with head and face LS( 43 with LSECDS, 30 with PFH and 15 with LSECDS / PFH overlap). In this study, a substantial proportion( 25.0 %) of patients presented LS lesions outside of the head and face
This is an open access article under the CC BY-NC license. www. medicaljournals. se / acta Journal Compilation © 2018 Acta Dermato-Venereologica. doi: 10.2340 / 00015555-2920 Acta Derm Venereol; 2018; 98: 603 – 605