Systemic Sclerosis

An Illustrated Guide to Manifestation and Management in Asian Skin

Arun C Inamadar, Aparna Palit, Arun C Inamadar, Aparna Palit

• Publisher: CRC Press
• Year: 2019
• ISBN:
  9781351063920
• Edition: 1
• Topic: Medizin
• Subtopic: Medizinische Theorie, Praxis & Referenz

This book presents a wide variety of cutaneous features of systemic sclerosis under one cover as cutaneous manifestations are often the first to appear and help in diagnosing this condition early. It has a multidisciplinary approach as systemic sclerosis is a multi-system disorder which comes under the purview of various medical specialties like dermatology, rheumatology and nephrology. Numerous cutaneous features are illustrated with explanatory notes. This book would help the students, teachers and professionals in identification, followed by subsequent treatment and management at an early stage.

Key Features

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• Focuses exclusively on systemic sclerosis

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• Includes diagnostic tips

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• Explores systemic sclerosis in dark skinned people

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• Consists of key points at the end of each chapter

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• Discusses diagnostic algorithms and flow charts

1

Systemic sclerosis: An overview

APARNA PALIT AND ARUN C. INAMADAR

Introduction

Historical perspectives

Epidemiology

References

INTRODUCTION

Systemic sclerosis (SSc), or scleroderma, is a unique collagen vascular disorder characterized by variable degree of dermal fibrosis. The resulting skin hardening gives rise to a typical set of tell-tale changes in patient’s appearance that are evident to the clinicians and other regular onlookers as well.¹ All patients with advanced scleroderma bear a look-alike face making it easy to identify the disorder from a distance. The associated impaired quality of life and morbidity are devastating for the patient, and the progressive course of the disease, in spite of all treatment modalities, are wearisome for the clinicians.

HISTORICAL PERSPECTIVES

Historically, the patients described by Hippocrates with “hard, parched and sweat-less skin” probably suffered from SSc.^1,2 Italian physician Giovambattista Fantonetti was the first to coin the term “scleroderma” (1836), though the evolution of the disease in his description does not tally well with this disorder.¹ By the end of nineteenth century, scleroderma was a clinically well-recognized disorder among the physicians with cutaneous and systemic involvement.¹ Sir William Osler³ aptly compared the gradual withering and wasting of patients suffering from scleroderma to the appearance of the Greek mythological figure Tithonus, who was gifted immortality without everlasting youth.^1,4

EPIDEMIOLOGY

SSc is ubiquitous affecting people of any race, though gender and geographical location-wise variations have been observed. The reason for an apparent increase in the incidence of SSc in recent epidemiological studies may be manifold; newer, more sensitive and specific diagnostic criteria, improved diagnostic techniques, and better understanding of the pathogenesis of the disease.^5,6

In several epidemiological studies from different regions of the United States (published 1971–2008), the incidence rate of SSc was <2/million populations and the prevalence rate was >25 cases/million populations.⁷ In another, a US healthcare claims database (2003–2008) study, where age and gender-adjusted patient data was estimated, incidence and prevalence of systemic sclerosis were 5.6 and 13.4–18.4 cases/100,000 populations, respectively.⁷ Currently, the US has the highest prevalence rate for SSc (276 cases/million inhabitants) followed by Australia (233 cases/million inhabitants).⁵

European countries have a lower incidence rate as compared to the US; a higher prevalence of the disease has been found in southern European countries as compared to northern.⁶ In a rheumatologists-assessed epidemiological study on SSc patients (2014) conducted in Brazil, the incidence rate was found to be 11.9%/million habitants and the prevalence rate was 105.6%/million inhabitants.⁵ An incidence rate of 7.2% and a prevalence of 38%–53% has been reported from a Japanese study (1987).⁸ Other Asian countries, like Taiwan and India, also have a lower prevalence of SSc.^9,10,11

Various authors have reported a region-wise higher prevalence of the disease in a given country. Such variations were attributed to the high frequency of susceptibility to HLA- haplotypes (HLA-B51 and HLA-DR2) among the inhabitants as well as the level of exposure to silica-dust.^6,12,13,14

A higher incidence, earlier onset, and greater severity of the disease has been recorded among black races.⁶ Females are more common sufferers than males (7:1).⁶ A higher occurrence among females (9.7:1) was recorded in the Italian population.^15,16 The reason for gender predilection is unknown; influence of estrogen, oral contraceptives, pregnancy, early menarche, or reproductive history do not appear to have a direct relation to the higher occurrence of the disease in women.⁶ However, though men suffer from a more severe disease and show worse laboratory parameters, the Health Assessment Questionnaire with Disability Index (HAQ-DI) was found to be lower as compared to women.¹⁷

Currently, the pathogenesis of systemic sclerosis remains unclear. There are emerging evidences that SSc is a multi-factorial disorder. Genetic predisposition, immune deregulation, and influence of exogenous factors in variable combinations are involved in the evolution of the disease.²

Various environmental exposures may have direct bearing in the disease occurrence. Occupational exposure to silica and various organic solvents have been extensively studied. Men working in stone queries and gold mines have a higher risk of developing the disease.^18,19 Other occupations in textile industries, professional cleaning, film developing, medical laboratories, and publishing press may have similar higher risk of developing the disease in both males and females.^18,19 A higher risk of occurrence of SSc and other collagen vascular disorders among silicone breast implant users has not been evidenced.²⁰ Smoking does not contribute to the risk of occurrence of SSc but may increase the severity of the disease.¹⁶

Historical cases of probable scleroderma reported undergoing various therapeutic interventions like purging, bathing in hemlock water, and ingesting bittersweet.¹ Phlebotomies, vapor bath, and quicksilver were also tried.¹ Therapy of SSc has since undergone revolutionary changes with improved disease outcomes. At the end of last century, D-penicillamine was the major drug used as an anti-fibrotic agent.²¹ Currently, a wide array of immunosuppressive agents is used for this purpose. Inhibition of the pro-fibrotic pathways by targeted therapy with monoclonal antibodies is on the way. Present therapeutic interventions in patients with SSc are more organ-specific to prevent complications; early therapeutic intervention with angiotensin-converting enzyme inhibitors has reduced the mortality pertaining to scleroderma renal crisis significantly.²¹

The survival rate in patients with SSc has increased over the years—from 54% in 1970s to 64% in 1990s.²² This may be related to better diagnostic criteria leading to early diagnosis, identification of the risk factors, and increasing availability of the effective therapeutic agents over the years. Earlier, the leading cause of death in patients with SSc was “scleroderma renal crisis (SRC).” With better understanding of the precipitating factors for SRC and prophylactic therapeutic interventions, this complication is rarer now a day. However, interstitial lung disease and pulmonary arterial hypertension have taken the forefront, causing great morbidity and mortality to the patients suffering from SSc. The future directions in the research of SSc should be focused at prevention and better management of the pulmonary complications.

REFERENCES

1. De Silva U, Parish LC. Historical approach to scleroderma. Clin Dermatol 1994;12:201–205.

2. David M. A case of scleroderma mentioned by Hippocrates in his aphorisms. Koroth 1981;8:61–63.

3. Osler W. On diffuse scleroderma; with special reference to diagnosis, and to the use of the thyroid-gland extract. J Cutan G-U Dis 1898;16:49–67, 127–134.

4. Victorian poet Lord Tennyson. Available at https://en.wikipedia.org/wiki/Tithonus_(poem). Accessed on June 8, 2018.

5. Horimoto AMC, Matos ENN, da Costa MR et al. Incidence and prevalence of systemic sclerosis in Campo Grande, State of Mato Grosso do Sul, Brazil. Rev Bras Rheumatol 2017;57:107–114.

6. Nikpour M, Stevens WM, Herrick AL, Proudman SM. Epidemiology of systemic sclerosis. Best Pract Res Clin Rheumatol 2010;24:857–869.

7. Furst DE, Fernandes AW, Iorga SR, Greth W, Bancroft T. Epidemiology of systemic sclerosis in a large US managed care population. J Rheumatol 2012;39:784–786.

8. Tamaki T, Mori S, Takehara K. Epidemiological study of patients with systemic sclerosis in Tokyo. Arch Dermatol Res 1991;283:366–371.

9. Barnes J, Mayes MD. Epidemiology of systemic sclerosis: Incidence, prevalence, survival, risk factors, malignancy and environmental triggers. Curr Opin Rheumatol 2012;24:165–170.

10. Kuo CF, See LC, Yu KH et al. Epidemiology and mortality of systemic sclerosis: A nationwide population study in Taiwan. Scand J Rheumatol 2011;40:373–378.

11. Minz RW, Kumar Y, Amand S. Antinuclear antibody positive antibody disorders in North India: An app...