Overlap syndrome is a rare condition involving the coexistence of at least two distinct autoimmune diseases, such as systemic lupus erythematosus and systemic sclerosis. This condition has limited studies on epidemiology probably because it is often under-recognized. We present a 22-year-old Filipino female with a 10-month history of hyperpigmented patches on the malar surface and extremities, with associated photosensitivity, fatigue, pallor, arthralgia, and oral ulcers, and positive antinuclear antibody titer. She was treated with oral Prednisone in tapering doses, leading to clinical improvement. Eight months later, there was a recurrence of hyperpigmented patches on the face and extremities with skin tightening and diffuse hair loss, development of shiny skin with facial fold loss, a beak-like nasal appearance, and episodes of dyspnea and malaise. Consistent with scleroderma, the patient was started on mycophenolate mofetil (MMF) 500 mg daily, with close monitoring for disease progression and systemic involvement. Overlap syndrome remains under-recognized due to its variable presentation and rarity. Treatment is individualized based on the specific connective tissue diseases involved and the patient’s symptoms. Multidisciplinary care is crucial for timely management and to adjust treatment as needed, given the potential for life-threatening complications involving cutaneous and internal organs.

Introduction: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are complex autoimmune conditions that can co-exist with 6.8% prevalence based on cohort studies. This case report details the clinical journey of a 45-year-old female with an SLE-SSc overlap syndrome particularly presenting with autoamputation of digits, which is a rare and debilitating complication of SSc, with a scarcity of published reports as of writing. Case Description: This patient was diagnosed with SLE nearly a decade ago, presenting with alopecia, joint pains, malar rash, and a positive antinuclear antibody test. Initial treatment with prednisone and hydroxychloroquine showed improvement, but hydroxychloroquine was discontinued due to adverse effects. Subsequently, she developed skin tightness, deformities in her digits, and progressive vision loss, consistent with SSc, but she did not seek timely medical attention. During the COVID-19 pandemic, her symptoms worsened, leading to hand weakness, digit shortening, and loss of fingernails. She was eventually diagnosed with SSc by a rheumatologist. The patient commenced treatment with prednisone (10 mg daily) and mycophenolate mofetil (500 mg thrice daily). Six months into treatment, she showed significant improvement in skin pliability and hand functionality, with regrowth of fingernails. The patient demonstrated excellent adherence to the treatment regimen and regular follow-up visits, resulting in continued improvement in her condition. Conclusion SLE-SSc overlap syndromes pose diagnostic challenges due to shared clinical features. This case underscores the need for early recognition and tailored treatment strategies, as evidenced by the patient’s positive response to combined immunosuppressive therapy. Addressing these complexities requires ongoing research and interdisciplinary collaboration to optimize patient outcomes.
Human ; Female ; Middle Aged: 45-64 Yrs Old ; Scleroderma, Systemic ; Lupus Erythematosus, Systemic

Morphea is a rare, chronic inflammatory condition that affects the skin and subcutaneous tissues with an unclear etiology. Genetic predisposition, autoimmune dysregulation, and environmental factors play a role in its pathogenesis. It affects both adults and children and presents as erythematous patches or plaques that develop sclerotic centers with a violaceous border. Early diagnosis and treatment are crucial to minimize damage and physical sequelae.

We present here a 30-year old female who presented with a solitary, violet-hue in color, indurated plaque on her left forearm after wearing a metal smartwatch for 4 months. She experienced on and off episodes of overheating from the watch but continued wearing it. There was no associated pruritus, tenderness, or loss of sensation. Anti-dsDNA showed a borderline positive result. Vitamin D levels were below the lower limit revealing a severe Vitamin D deficiency. Dermoscopy revealed fibrotic beams, branching vessels and an erythematous to pink background. Histopathologic analysis showed superficial and deep perivascular and periadnexal infiltrates of lymphocytes and plasma cells with compact collagen bundles and notable loss of periadnexal fat. The patient was started on topical halobetasol then shifted to tacrolimus 0.01% and started on targeted NB-UVB. Excellent response was seen after 9 sessions of phototherapy. There was a decrease in induration, size and no further progression.

Morphea is a rare inflammatory condition without a clear etiology and early diagnosis and treatment are important. This case highlights the relationship between gadget trauma and the development of Morphea.

Diffuse cutaneous Systemic Sclerosis (dsSSc) is an uncommon subtype of Scleroderma or Systemic Sclerosis (SSc), a multisystemic autoimmune disease. Philippine reports remain limited, hence there is a need to review this condition to accurately diagnose and manage Filipino patients. We present the case of a 52-year old Filipino female with a one-year history of pruritus and generalized skin thickening presenting as multiple, well-defined, hyperpigmented patches and plaques. She also presented with systemic symptoms like fever, dysphagia, and finger tenderness, swelling, numbness, and color changes upon exposure to extreme temperatures known as Raynaud’s Phenomenon. Clinical findings, alongside dermoscopic, histopathologic, nail capillaroscopy, and diagnostic data, confirmed dsSSc diagnosis with complications like Barrett’s Esophagus and Interstitial Lung Disease. Treatment options include corticosteroids, emollients, immunosuppressants, biologics, and phototherapy. Multidisciplinary teams are essential to address systemic complications.

Introduction: Morpheq, also known as localized scleroderma, describes a distinctive inflammatory skin disorder that ultimately leads to sclerosis. It is differentiated from systemic scleroderma by the absence of vasculopathy and organ involvement. Initial erythema may precede the sclerotic stage by a few months causing initial diagnostic confusion. High index of suspicion and knowledge of disease evolution are essential. We report a case of morphea and its progression, the diagnostic approach and the importance of early treatment and long-term monitoring. Case Summary: A 3l-year-old Filipino female who presented with multiple erythematous plagues on the trunk and extremities and arthralgia was initially diagnosed with cutaneous drug reaction. Prompt treatment led to partial relief of symptoms. However, two months later, eruption of multiple ivory-white small patches and plaques were noted on the same affected areas prompting an impression of morphea. Serum markers revealed elevated antinuclear antibody levels and negative anti-Scl70/anti-centromere serum autoantibodies. Skin biopsy showed homogenized thick dermal collagen bundles confirming the diagnosis of morphea. Topical therapy with calcipotriol + betamethasone dipropionate ointment showed remarkable improvement with decrease in erythema and softening of the lesions while adjunct narrowband-UVB phototherapy also provided relief due to its ability to reduce collagen synthesis and cytokine production. Conclusion Morphea may be easily misdiagnosed during the early stages especially if sclerosis ensues late in the disease. Characteristic clinical appearance of erythematous plaques with violaceous borders may not always be present. Histologic examination and serum autoantibodies help exclude other disorders with the same clinical and histopathological spectrum. Treatment is individualized depending on the severity and depth of skin involvement, early treatment and monitoring should be initiated before complications arise.
Scleroderma, Localized ; Fibrosis

Systemic sclerosis is a disease characterized by skin and internal organ fibrosis, lacking specific therapeutic drugs and having a poor prognosis. Early diagnosis and intervention of the disease is of significant value in improving patient prognosis. This article provides a systematic review of the early diagnosis and treatment of systemic sclerosis, including early symptom recognition, laboratory testing, and drug intervention. It will provide a reference for the prevention of this disease.
Humans ; Scleroderma, Systemic/prevention & control*

OBJECTIVE: To detect the expression of plasma exosomal microRNA (miRNA) in systemic sclerosis (SSc), and to investigate its clinical significance. METHODS: A total of 20 patients who were initially diagnosed with SSc and did not receive medication in Department of Rheumatology and Immunology of Meizhou People' s Hospital from January 2020 to January 2022 were recruited, as well as 15 healthy individuals whose gender and age matched with those of the SSc patients. Plasma exosomes were isolated using ultracentrifugation method. The expression levels of exosomal miR-34-5p, miR-92-3p and miR-142-3p were detected by quantative real-time polymerase chain reaction (qRT-PCR). Correlations between the expression levels of exosomal miRNAs and clinical characteristic were analyzed by Spearman's rank correlation coefficient test. RESULTS: The mean age of 20 patients with SSc was (52.6±12.6) years, including 7 males and 13 females. Among the 20 SSc patients, 13 cases were diagnosed as limited cutaneous systemic sclerosis (lcSSc) and 7 cases were diagnosed as diffuse cutaneous systemic sclerosis (dcSSc) according to the extent of skin involvement. According to the findings of high resolution chest CT, 7 of 20 SSc patients were diagnosed with interstitial lung disease (ILD) and 13 SSc patients were diagnosed with non-ILD. The expression levels of exosomal miR-34-5p, miR-92-3p and miR-142-3p were significantly elevated in the SSc patients compared with those in the healthy controls group (P=0.003, P=0.000 1, and P=0.016, respectively). Compared with the SSc patients without ILD, the expression levels of miR-34-5p and miR-142-3p were significantly lower in the SSc patients with ILD (P=0.037 and P=0.015, respectively). The expression levels of exosomal miR-34-5p and miR-142-3p showed negative correlation with ILD (r=-0.48, P=0.031 and r=-0.55, P=0.011, respectively), and arthritis (r=-0.46, P=0.040 and r=-0.48, P=0.032, respectively). The expression levels of exosomal miR-142-3p showed a negative correlation with erythrocyte sedimentation rate (ESR) (r=-0.55, P=0.012). CONCLUSION Plasma exosomal miR-34-5p, miR-92-3p and miR-142-3p were dysregulated in SSc. The dyregulation of exosomal miR-34-5p and miR-142-3p showed correlation with SSc associated ILD (SSc-ILD).
Male ; Female ; Humans ; Young Adult ; Adult ; Clinical Relevance ; MicroRNAs/genetics* ; Scleroderma, Systemic/genetics* ; Lung Diseases, Interstitial

Systemic sclerosis is a disease characterized by skin and internal organ fibrosis, lacking specific therapeutic drugs and having a poor prognosis. Early diagnosis and intervention of the disease is of significant value in improving patient prognosis. This article provides a systematic review of the early diagnosis and treatment of systemic sclerosis, including early symptom recognition, laboratory testing, and drug intervention. It will provide a reference for the prevention of this disease.
Humans ; Scleroderma, Systemic/prevention & control*

Objective: To summarize the clinical and imaging features of linear scleroderma en coup de saber (LSCS) with central nervous system involvement in children. Methods: The clinical data(clinical manifestations and imaging features) of 6 children diagnosed with LSCS with central nervous system involvement who were admitted to Beijing Children's Hospital Affiliated to Capital Medical University from May 2019 to November 2021 were retrospectively analyzed. Results: The 6 patients were all female, aged 6.8 (3.3, 11.0) years at the time of diagnosis, and aged 3.0 (1.7, 4.1) years at the time of discovery of facial skin lesions. Facial skin lesions appeared before neurological symptoms in 5 cases, and neurological symptoms appeared 2 months before skin lesions in 1 case. All the patients had "sword wound" skin lesions on the forehead with alopecia. Neurological manifestations included epileptic seizures in 6 cases, focal neurological defects in 5 cases, and headaches in 2 cases. The intracranial lesions were all ipsilateral to the skin lesions. The magnetic resonance imaging (MRI) of 6 cases showed abnormal signals mainly involving white matter in 1 hemisphere, and 3 cases showed local encephalomalacia. The scattered low signal was observed in 5 cases on susceptibility weighted imaging. Localized brain parenchyma or leptomeninges enhancement was seen on Gadolinium-enhanced sequences in 5 cases. Scattered foci of calcification on the affected side were seen on cranial CT in 4 cases. Skin biopsy was performed in 2 cases. Part of the lesion of the brain was removed in 1 case, and the pathological findings suggested small vasculitis, which was consistent with skin pathological changes. All patients received symptomatic treatment with antiepileptic drugs. Oral prednisone combined with methotrexate was given in 4 cases, and 1 case was given oral prednisone only. One case was presumed to be in the resting stage of the disease due to significant cerebral atrophy in half of the brain, and only antiepileptic drugs were added. The patients were followed up for 6-36 months. The skin lesions of scleroderma and alopecia did not progress in 5 cases, and hemifacial atrophy was developed in 1 case, which was considered to be combined with Parry-Romberg syndrome. The seizures were controlled in 4 cases. One case had reduced seizure frequency but left hemiplegia. One patient still had intractable epilepsy and paroxysmal headache. Conclusions: LSCS with central nervous system involvement is more common in girls, with seizures and neurological defects as the main manifestations. Intracranial lesions are mostly ipsilateral to the skin lesions. Cerebral microbleeds, calcification, and encephalomalacia foci are common, and the pathological changes in skin and intracranial lesions are consistent with small-vessel vasculitis. Prednisone combined with methotrexate treatment has shown some efficacy, but some children remain with refractory epilepsy and neurological deficit symptoms.
Child ; Humans ; Female ; Scleroderma, Localized ; Anticonvulsants ; Methotrexate ; Prednisone ; Retrospective Studies ; Seizures ; Drug Resistant Epilepsy ; Calcinosis ; Alopecia ; Brain ; Encephalomalacia ; Headache

Antibodies, Antinuclear ; Autoantibodies ; China ; Cohort Studies ; Humans ; Scleroderma, Systemic