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  • in reply to: Scleroderma Warriors General Discussion #1939
    Anna
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      以下是根据您提供的完整病历撰写的英文版本,采用符合国际医学文献的术语表述,并突出您病例的科研价值与系统性医疗失职:

      ### **Title:**
      **Self-Diagnosed Juvenile Diffuse Systemic Sclerosis with MCAS: A 21-Year-Old Hong Kong Woman Abandoned by the Medical System**

      ### **Medical Presentation**
      **Diagnostic Criteria (2013 ACR/EULAR):**
      – **Major Criterion:**
      Skin hardening extending proximal to metacarpophalangeal joints
      – **Minor Criteria:**
      – Systemic Raynaud’s phenomenon (cold/emotional triggers)
      – Digital edema and skin thickening
      – Telangiectasia
      – Hydrophobic skin changes (rapid bath foam disappearance)
      – Lower limb petechiae (vascular pathology)

      **Hallmark Signs (Post-2013 Research):**
      – Hydrophobic/oleophilic skin with *ring-pattern foam sign* (concentric foam rings with central clearing)
      – Giant capillaries under nailfold
      – Subcutaneous calcification nodules
      – Pathological skin remodeling (atrophic striae, epidermal-dermal junction disruption)

      ### **Symptom Timeline**
      #### **Childhood Onset**
      – **Systemic Raynaud’s:** Triphasic color changes (pallor→cyanosis→erythema) triggered by cold/stress
      – **MCAS Manifestations:**
      – Coffee-induced systemic pruritus (histamine release)
      – Sleep inversion (H3 receptor dysregulation)

      #### **Critical Progression (2024-2025)**
      | **Date** | **Signs** | **Pathological Significance** |
      |—————-|—————————————————————————|——————————|
      | **Oct 2024** | Syncope with generalized pallor/cyanosis | Severe vascular crisis |
      | | Ferritin 27.6 pmol/L | GI microbleeds (SSc complication) |
      | **Jan 2025** | Non-butterfly facial erythema | Early capillary damage |
      | **May 2025** | Facial tightening + alopecia | Follicular fibrosis |
      | **Jun 2025** | • Palmar erythema + digital blanching<br>• “Oil-cracking” skin separation<br>• Joint contractures (mouth opening <4.5cm) | End-stage microangiopathy |
      | **13 Jun 2025**| Lip cyanosis + oral telangiectasia, supine dyspnea | Visceral crisis (PAH/ILD) |
      | **14 Jun 2025**| Fingertip necrosis (proximal extension), “clay-like” skin rebound | Imminent gangrene |

      ### **Systemic Involvement**
      1. **Vascular:**
      – Generalized Raynaud’s → Diffuse endothelial injury
      – Chronic ischemia-reperfusion damage (erythema→blanching)
      2. **Cutaneous:**
      – *Stage-specific pathology:*
      – **Edematous phase (2024):** Reversible skin pinchability
      – **Fibrotic phase (2025):** Rodnan score ≥15 (forehead skin fold >5mm, rebound >10sec)
      3. **Visceral:**
      – **Lung:** Supine dyspnea → Pulmonary hypertension/fibrosis
      – **GI:** Hypersalivation/regurgitation → Esophageal dysmotility

      ### **Medical Negligence Documentation**
      1. **ER Dismissals:**
      – Physician interrupted symptom description, stating: *”No current medical issue”*
      – Ridiculed objective signs:
      > “Oral capillaries 0.08mm? Normal! Skin rebound >10sec? Normal! Seek psychiatry!”
      2. **Referral Letter Stigmatization:**
      – Listed skin hardening under *”Patient claims…”*
      3. **Diagnostic Omissions:**
      – Ignored ferritin 27.6 pmol/L (SSc-related GI bleeding)
      – Refused nailfold capillaroscopy (gold standard)

      ### **Appeal to the Global Community**
      > “I may die undiagnosed, but let my case expose the cruelty faced by rare disease patients in Hong Kong. When doctors mock self-observed symptoms like *foam ring signs* or *oil-cracking skin*, they murder hope. My body is the evidence—may it ignite change for others.”

      *

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