Journal of Clinical Case Reports

Systemic Sclerosis: A Hard Approach in a Hardened Skin

Abstract

Helena Marques and Cristina Ferreira Tavares

Systemic sclerosis (SSc) is a multisystem disease characterized by widespread vascular dysfunction and progressive fibrosis of the skin and internal organs. SSc’s prevalence ranges from 30 to 240 per million inhabitants, being females mostly affected. This case is about a female, 43 years old. Visited family doctor with complaints of fatigue, lumbago at nighttime and systemic myalgia. Pain, edema and thumb’s paresthesia persisting for a week preceding the time of the appointment. Physical examination showed edema of the distal phalanges bilaterally. No skin or nail changes were present. No signs of arthritis. Raynaud’s phenomenon with coarse speckle >1:160, normal ds-DNA and RF, sedimentation rate of 32 mm/h. The patient was referred to a rheumatology consultation. During one year of follow-up in rheumatology consultation, just kept arthralgia without other symptoms. In September 2014, the physical exam showed skin wrinkling in the distal ends of the fingers with positive Raynaud. New immunological study ANA, rheumatoid factor (RF), C3, C4, anti-centromere antibody (ACA), topoisomerase I (anti-Scl-70) and nailfold capillaroscopy were requested. Positive ANA, negative ACA and anti-Scl-70. Nailfold capillaroscopy showed dilated capillary loops, microhemorrhages and architectural derangement. Systemic sclerosis (SE) was diagnosed. Methrotrexate and prednisolone treatment were initiated. Currently, progressive worsening of tissue fribrosis despite maximal immunosupression with methrotrexate. Tocilizumad treatment under consideration. Annual follow-up with pulmunary function testing (PFT), lung CT and Doppler echocardiography.

Overlapping symptomatology with other diseases such as systemic lupus erythematosus (SLE), dermatomyositis and rheumatoid arthritis may occur. Therapy requires a systemic and multidisciplinary overview of the patient. It must be coherently adapted to target its manifestations, as to improve quality of life and prevent, when possible, disease progression.