Salt-and-pepper dyspigmentation as a distinctive feature in systemic sclerosis: A case series

Case 1

A 28-year-old male reported experiencing joint pain, body aches, skin pigmentary changes, and shortness of breath during exertion for 3 years, accompanied by a 3-week history of an ulcer on the second toe of his left foot.

Examination revealed rigidity and restricted movement in the interphalangeal and metacarpophalangeal joints. Ulceration with blackish discoloration on the second toe of the left foot had progressed to gangrene. In addition, there was skin thickening and sclerodactyly of the fingers on both hands, along with salt-and-pepper-like dyspigmentation on the upper limbs.

Complete blood count (CBC) report revealed hemoglobin level of 6.9 g/dL, a white blood cell (WBC) count of 9,300/cumm, red blood cell (RBC) count of 2.85 million/cumm, and a platelet count of 3.1 lakh/cumm. Additional investigations showed random blood sugar (RBS) at 92 mg/dL, total serum bilirubin at 0.4 mg/dL, serum glutamic oxaloacetic transaminase of 46 U/L, SGPT (serum glutamic pyruvic transaminase) of 27 U/L, serum urea of 41 mg/dL, serum creatinine of 0.8 mg/dL, thyroid-stimulating hormone (TSH) of 2.63 mIU/L, with normal serum electrolytes. Urine analysis revealed albuminuria and the presence of granular casts. X-ray of both hands with wrists and forearms detected osteoporotic changes and ulnar deviation of fingers. High-resolution computed tomography (HRCT) of the thorax revealed interstitial lung disease (ILD) with pericardial effusion. A Doppler study of the left lower limb detected ischemic changes affecting the second left toe.

IIFA showed the presence of a homogenous nucleolar ANA pattern, and LIA confirmed the presence of anti-Scl-70 antibody. With an ACR-EULAR score of 12, a diagnosis of SSc with ILD and digital gangrene was established. He received conservative treatment during his hospital stay.

Case 2

A 42-year-old female presented with easy fatigability, dyspnea with moderate exertion, occasional non-productive cough, arthralgia, skin dyspigmentation, and skin tightening around the mouth for around 3 years, with a history of hypothyroidism and Raynaud’s phenomenon during winters. Examination revealed skin tightening around the perioral region and upper limbs, along with restricted mouth opening. Dyspigmented salt-and-pepper-like lesions were noted on her scalp and ears. On palpation, the thyroid gland was found to be normal in shape and contour.

The CBC report indicated lower levels of hemoglobin, WBC count, and RBC count. The absolute lymphocyte count was found to be low at 0.39 × 10³/μL. The details of blood parameters are shown in Table 1. HRCT thorax revealed ILD, while both echocardiography and abdominal ultrasonography (USG) results were normal.

IIFA showed a nuclear homogeneous ANA pattern, and LIA detected the presence of anti-Scl-70 antibody. With an ACR-EULAR score of 10, she was diagnosed as a case of SSc with ILD and managed conservatively.

Case 3

A 60-year-old female presented with a 2-year history of skin thickening and abnormal pigmentation, and finger-tip scars for 1 year. On examination, skin tightening and fibrosis were observed on her face and upper limbs. She exhibited microstomia with significantly limited mouth-opening capacity. Dyspigmented salt-and-pepper-like lesions were observed on her hands and around her eyebrows. She also had nail clubbing, puffy fingers, fingertip scars, and finger shortening.

The CBC report revealed low hemoglobin levels but normal levels of WBC, RBC, and platelet counts [Table 1]. RBS, liver function test (LFT), and kidney function test (KFT) were also normal [Table 1]. Chest X-ray, electrocardiogram (ECG), and USG abdomen did not reveal any abnormality. IIFA showed a homogenous nucleolar ANA pattern, and LIA demonstrated anti-Scl-70 antibody. With an ACR-EULAR score of 11, she was diagnosed with SSc and treated conservatively.

Case 4

A 35-year-old female presented with a 2-year history of abnormal skin pigmentation and breathing difficulty, along with ulcerations on the elbows, left knee, and buttocks for the past 4 months.

Extensive depigmented salt-and-pepper-like lesions were observed on her neck, chest, upper limbs, and lower limbs. Sparing of serpentine supravenous hyperpigmentation (SSH) over the anterior surface of the lower limbs was also noticed. Gross ulcerations were seen over her elbows and buttocks. A smaller ulceration was present on her left knee. She had alopecia and sclerodactyly of the fingers. Calcinosis, appearing as whitish-yellowish papules and nodules, was visible across various parts of her skin. Over time, she became bedridden due to decreased muscular strength. Gross muscular fibrosis and atrophy of her limb muscles were also noticed. She previously had episodes of Raynaud’s phenomenon.

Blood investigations revealed low hemoglobin level and high WBC count; however, RBS, LFT, and KFT were normal [Table 1]. Proteinuria was detected by 24-h urinary protein analysis [Table 1]. Other investigations, such as serum electrolytes and lipid profile, were normal. HRCT of the chest revealed ILD, and USG abdomen suggested B/L nephrocalcinosis and renal calculi. Spirometry indicated severe impairment of lung function. Echocardiography and barium swallow X-ray were normal. A nuclear homogeneous ANA pattern was detected by IIFA, and anti-Scl-70 antibody was detected by LIA. Her ACR-EULAR score was 12. She was diagnosed with SSc with ILD and treated conservatively.

Case 5

A 35-year-old male presented with an 8-month history of diffuse skin thickening, abnormal skin pigmentation, and fingertip scars. Thickened skin was observed on his hands and face, with visible scars on his fingertips, with a history of Raynaud’s phenomenon. Depigmented, salt-and-pepper-like lesions were noted on his scalp, forehead, and hands.

CBC, LFT, and KFT were within normal ranges [Table 1]. Serum electrolytes and lipid profile were also normal. No abnormalities were detected in the ECG, chest X-ray, or USG abdomen. IIFA demonstrated the presence of a homogenous nucleolar ANA pattern, and LIA detected anti-Scl-70 antibody. His ACR-EULAR score was 13, hence diagnosed as a case of SSc and treated conservatively in the hospital.

Case 6

A 35-year-old female presented with a 2-year history of skin tightening, skin dyspigmentation, multiple joint pains, and hypertension. On examination, her blood pressure was elevated at 160/100 mmHg. Skin thickening was observed on her face and fingers. Swelling and tenderness were noted in the metacarpophalangeal joints. Depigmented salt-and-pepper-like lesions were evident on her forehead and hands, and she reported a history of Raynaud’s phenomenon.

Her CBC report indicated a low level of hemoglobin, whereas WBC, RBC, and platelet counts were normal [Table 1]. Additional test results of RBS, LFT, and KFT have also been mentioned in Table 1. Serum electrolytes, ECG, and chest X-ray were normal. However, her USG abdomen report suggested the presence of gall bladder sludge. IIFA demonstrated a homogeneous nucleolar ANA pattern, and LIA confirmed the presence of anti-Scl-70 antibody. With an ACR-EULAR score of 10, she was diagnosed with SSc and managed conservatively in the hospital.

Case 7

A 21-year-old male presented with arthralgia, restricted finger movement, dyspigmentation of skin, restricted mouth opening, and a history of Raynaud’s phenomenon triggered by cold exposure for the past 2 years. He also reported occasional shortness of breath over the past year. Examination revealed stiff skin on his face and fingers, along with proximal interphalangeal joint contractures that limited full extension of his fingers. Calcinosis was observed around some of his joints. Dyspigmented salt-and-pepper-like lesions were noted on his forehead, neck, and thighs.

His CBC report revealed low hemoglobin and normal WBC, RBC, and platelet counts [Table 1]. RBS, LFT, and KFT were within normal limits [Table 1]. C-reactive protein (CRP) was elevated at 42.80 mg/L, and the urine-albumin creatinine ratio of 9.86 indicated proteinuria. Serum electrolytes, TSH, and ECG findings were normal; however, spirometry indicated restrictive lung disease, and NCCT chest revealed ILD. Smooth nuclear envelope ANA pattern was observed by IIFA, and anti-Scl-70 antibody was detected by LIA. His ACR-EULAR score was 12, and diagnosed as SSc with ILD and treated accordingly.

Case 8

A 40-year-old male presented with a decade-long history of weakness, pigmentary changes in skin, multiple joint pains, and skin tightening. He reported color changes in his fingers upon exposure to cold water, indicative of Raynaud’s phenomenon.

On examination, skin tightening was evident on his face, fingers, and forearms. Puffy fingers were noted along with widespread scaling and peeling of skin from the fingers. Calcinosis was observed in the subcutaneous tissue of his right elbow. Dyspigmented salt-and-pepper skin-like lesions were present on his face, ears, neck, chest, forearms, back, and along his spine. In addition, he exhibited mild perioral skin tightening and oral mucosal ulcerations.

His blood test results (CBC, LFT, KFT, RBS, and TSH) have been summarized in Table 1. Lipid profile, electrolytes, chest X-Ray, and ECG were normal. ANA detection by IIFA revealed a homogenous nucleolar pattern, and the presence of anti-Scl-70 antibody was detected by LIA. His ACR-EULAR score was 11, diagnosed as SSc, and managed conservatively.

Case 9

A 59-year-old female presented with multiple joint pains, skin tightening, and abnormal skin pigmentation for the past 6 months. She often suffered from color changes of the digits upon exposure to cold water.

On examination, patches of alopecia were noted, along with dyspigmented salt-and-pepper-like lesions on her scalp, forehead, and face. Swelling and reduced mobility were observed in multiple joints of her upper limbs, particularly in the fingers, where she had developed sclerodactyly. Calcinosis was evident in various finger joints. In addition, the perioral region displayed skin tightening, resulting in limited mouth-opening capacity.

Her CBC report revealed a low hemoglobin level. Details of the blood parameters, such as CBC, RBS, LFT, and KFT, have been summarized in Table 1. Additional tests, such as lipid profile, TSH, electrolytes, X-ray chest, USG abdomen, and ECG reports, were normal. A nuclear, fine speckled ANA pattern was detected by IIFA, and LIA detected anti-Scl-70 antibody. Her ACR-EULAR score was 10, thereby she was diagnosed with SSc; her treatment was initiated accordingly.

Case 10

A 45-year-old female presented with a 4-year history of skin dyspigmentation, skin tightening affecting her face and fingers, difficulty in swallowing, and exertional shortness of breath over the past 6 months. She had a history of Raynaud’s phenomenon. Skin thickening was observed around the face, perioral region, forearms, and fingers of both hands. Alopecia was noted on her scalp, while areas of dyspigmentation, salt-and-pepper-like lesions were seen on her scalp, forehead, and face. Her blood pressure was recorded at 148/94 mmHg.

The CBC report indicated a low hemoglobin level of 9.3 g/dL. Details of WBC, RBC, platelet count, liver enzymes, and KFT values have been shown in Table 1. ECG and abdominal USG were unremarkable. Barium swallow X-ray revealed esophageal dysmotility and distal esophagus stricture, and the HRCT thorax findings suggested ILD. Further, IIFA detected the presence of a few nuclear dots, an ANA pattern, and the presence of anti-Scl-70 antibody. The ACR-EULAR score was 12, diagnosed as SSc with ILD, and treated accordingly.