Practice Paper 4: Answers
Anthony B. Starr, Hiruni Jayasena, David Capewell, Saran Shantikumar in Get ahead! Medicine, 2016
Systemic sclerosis is a connective tissue disorder characterized by thickening and fibrosis of the skin (scleroderma) with involvement of internal organs. There are two forms: a limited cutaneous type (60%) and a diffuse cutaneous type (40%). Limited cutaneous scleroderma is limited to the distal limbs (i.e. distal to the elbows and knees). Other features include a beaked nose and small, furrowed mouth (microstoma). Limited cutaneous scleroderma also encompasses the CREST syndrome, which is characterized by calcinosis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia. Calcinosis is the formation of calcium deposits in the soft tissues, often seen on the pulps of the fingers. Raynaud’s phenomenon is an idiopathic condition with episodic digital vasospasm precipitated by a cold environment, as a result of which the affected fingers or toes become white and may be painful. Oesophageal dysmotility is manifested as dysphagia and reflux. Sclerodactyly describes the presence of tight, shiny skin over the fingers, producing a fixed flexion deformity. In limited cutaneous scleroderma, the anticentromere antibody is characteristically positive. Pulmonary hypertension is a common internal manifestation.
Spot diagnosis and pattern recognition
Caroline J Rodgers, Richard Harrington in Helping Hands: An Introduction to Diagnostic Strategy and Clinical Reasoning, 2019
The history is consistent with Raynaud’s phenomenon. In the photos, the prominent features are of tight, thickened, shiny, hairless skin with loss of skin creases (sclerodactyly) and joint deformity. Remember that the thickening and tightness of the skin is detected on palpation. This pattern of features coupled with the history of Raynaud’s phenomenon would fit with scleroderma (note that at this stage, without examining the rest of the patient, we do not know if this represents limited or diffuse systemic sclerosis). Approximately 90% of patients with systemic sclerosis have Raynaud’s phenomenon, so it is important to take a careful history in this respect.10 In addition, approximately 95% of individuals with the diagnosis show signs of sclerodactyly.10
Pathophysiology and Management of Diabetic Gastropathy
Emmanuel Opara in NUTRITION and DIABETES, 2005
On physical examination, potential evidence for a peripheral neuropathy (stocking, glove) should be sought. Examination of the extremities includes looking for evidence of sclerodactyly. Upon examination of the abdomen, percussion in the upper abdomen or shaking the upper abdomen may confirm the presence of a succussion splash. It can be helpful to perform auscultation of the abdomen during percussion of the upper abdomen, which is designed to elicit a splashing sound due to the presence of air and fluid in the stomach. Normally, less than 200 ml of fluid is present in the stomach following an overnight fast.
Removal of breast implants as primary treatment for autoimmune/inflammatory syndrome induced by adjuvants
Published in Scandinavian Journal of Rheumatology, 2023
S Ramakrishnan, A Abbas, N Jordan
A 59-year-old woman with early diffuse systemic sclerosis (SSc) and positive anti-RNA-polymerase III antibodies showed a marked improvement in symptoms following removal of bilateral breast implants. She presented to the clinic with a 3 month history of swelling, stiffness, and pain in her hands and feet. She also reported symptoms of new-onset, progressively worsening Raynaud’s phenomenon. She had been previously fit and well, had no family history of autoimmune disease, and had undergone bilateral breast implantation 22 years previously for cosmetic reasons. On examination, there was evidence of sclerodactyly, with puffiness and swelling of all fingers, but no obvious synovitis. Serology was positive for anti-nuclear antibodies on enzyme-linked immunosorbent assay and HEp-2 (speckled pattern), and also for anti-RNA polymerase III. Nailfold capillaroscopy demonstrated an abnormal pattern with multiple dilated and tortuous loops, suggestive of scleroderma spectrum connective tissue disease. She was initially treated with hydroxychloroquine, but her disease progressed rapidly, with skin texture thickening to the distal forearms. She was then commenced on mycophenolate mofetil, but her symptoms worsened following this. She reported pruritus, increased ankle and elbow stiffness, and worsening of her Raynaud’s phenomenon. Following potential implant dislodgement, she underwent bilateral removal of her breast implants. This led to a marked improvement in her symptoms of joint pain, stiffness, and skin thickening, such that she was able to discontinue mycophenolate mofetil, and remains stable on hydroxychloroquine monotherapy as of her most recent follow-up.
Advances in understanding and treatment of scleromyxedema
Published in Expert Opinion on Orphan Drugs, 2018
Laura Atzori, Caterina Ferreli, Franco Rongioletti
Scleromyxedema consists of two different findings: the papular component and the indurated modification (sclerodermoid) of the underlying skin, involving the hands, forearms, head, neck, upper trunk, and thighs. The widespread papular eruption is characterized by small lesion, 2–3 mm, firm, waxy, closely spaced, dome shaped, or flat topped, often arranged in a linear array (Figure 1). A typical finding on the proximal interphalangeal joints is the ‘doughnut sign’, consisting of a central depression surrounded by an elevated rim of thickened skin. Non-tender subcutaneous nodules are sometimes present. At palpation, consistency of the involved skin is harden fibromatous. Progression to stiffening and decreased joint motility can lead to sclerodactyly. In respect to scleroderma, the Raynaud phenomenon is rare, and telangiectasias or calcinosis is absent [2,14]. The other pathognomonic finding is the erythematous and edematous induration of large areas of the skin, progressing to plaques, with a shiny appearance or sometimes with a brownish discoloration. On the trunk and radix of the limbs, induration and loss of elasticity are responsible for the so-called ‘Shar-pei sign’ (Figure 2), which consists of deep longitudinal furrowing similar to the dog’s skin appearance. The same induration and furrowing on the glabella cause the ‘leonine face’ (Figure 3). Another peculiar site of involvement is the auricle (Figure 4). A decrease in eyebrows, and axillary and pubic hair is common. Lesion’s itching is common and may induce the occurrence of a Koebner phenomenon [1]. Mucous membranes are spared, but skin infiltration around the mouth is frequent, and the reduced motility is a very disturbing symptom for the patient, characteristic of active disease (Figure 5).
Effects of sense and functionality changes in the hands on activity and participation in patients with juvenile scleroderma
Published in Modern Rheumatology, 2021
Arzu Dag, Ela Tarakci, Amra Adrovic, Ozgur Kasapcopur
The hands are commonly affected in patients with JS and Raynaud’s phenomenon, and finger swelling and joint pain are the primary manifestations of the disease. Vascular impairment leads to pain in the fingers and ischemic ulcers. At more advanced stages of the disease, the fingers may become atrophic, sclerodactyly, and stiff, with possible tissue loss. Muscle weakness in the upper limbs and impaired dexterity during activities requiring precise movements are common complaints among individuals with JS [7–10].
Related Knowledge Centers
- Calcinosis
- Crest Syndrome
- Scleroderma
- Telangiectasia
- Autoimmune Disease
- Finger
- Toe
- Raynaud Syndrome
- Mixed Connective Tissue Disease
- Esophageal Motility Disorder