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PNS Pathology (Soft tissue tumor (Fatty tumors, Fibrous tumors,…

- - - - Spinal muscular atrophy (Infantile motor neuron disease)
  - - - Lipid myopathy
        
        Carnitine, Dehydrogenase enzyme異常
        
        脂質堆積
      - Mitochondrial myopathies
        
        母系遺傳： mtDNA point mutation, deletion / duplication
        
        異常的粒線體在肌肉細胞邊緣堆積 >> Ragged red fibers
        
        電顯下粒線體不正常的 Creatine kinase 堆積形成的 cytstals 叫作 Parking lot inclusions
    - - Central core disease
      - Nemaline myopathy
        
        Nemaline myopathy-nemaline rod body
        
        是堆積在subsarcolemma的現狀沉積物
      - Myotubular myopathy
    - - Duchene & Becker
        
        X-linked
        
        Muscle fiber size 的 pseudohypertrophy (pic-Duchene)
        
        Scarring之後會有 endomysial connective tissue堆積
      - Limb girdle muscular dystrophy (RARE)
      - Myotonic dystrophy
        
        顯性遺傳，Myotonia protein kinase異常
        
        CTG repeat
        
        Ring fiber
        
        肌肉無力、白內障、性腺萎縮、心肌病
    - - Hypercalcemic, hypokalemic, normakalemic period paralysis
        
        SCN4A (骨骼肌的鈉離子通道蛋白)基因突變
      - Malignant hyperthermia
        
        Sacrolemma 的鈣離子通道異常
  - - - Thyrotoxic myopathy
      - Ethanol myopathy
      - Drug-induced myopathies
        
        Statin
        
        Steroid
        
        Chloroquine (治療瘧疾)
  - - - 單一萎縮：Angulated fiber
        
        一整群萎縮：小、圓 fiber
    - - 纖維萎縮
        
        喪失橫紋
        
        Zenker’s hyaline change
        
        局部核濃縮
        
        巨噬細胞流入以清除殘骸 >> 但不代表發炎，淋巴球及嗜中性球多才是發炎
        
        典型例子：segmental 病灶，只要endomysial tubule完整，肌肉纖維就還可以再生。
    - - 細胞質呈現 basophilic
        
        核移至肌纖維中心
        
        核仁明顯
    - - Denervation - reinnervation，細胞骨架重組所致。
    - - 鄰近之肌纖維大小差異很大
    - - Myofilaments 在纖維周圍呈現同心圓環繞 >>> Myotonic dystrophy
- - - - 為Immune-mediated，可能機制為
        
        Molecular mimicry of microbe cell surface Ag
        
        Immune刺激，活化self tolerant T cells/ MHC complex expression 造成過度cytokines release
        
        藥物和self Ags作用
      - 通常都有前驅事件
        
        感染
        
        系統性疾病：Lymphoma, Leukemia
    - - Leprosy痲瘋
        
        似結核菌，造成granulomatous inflammation
        
        攻擊Schwann cells
        
        Myelinated & Unmyelinated both affected >> segmental demyelination & remyelination
        
        主要侵犯痛覺神經，病人受感染後喪失感覺
      - Diphtheria白喉
        
        外毒素造成麻痺、無力，本體感覺、震動覺喪失
        
        最早病變出現於sensory ganglion 此處 blood-nerve barrier 不完整
      - Varicella-zoster virus皰疹病毒
        
        在感覺神經中潛伏
        
        所造成的皰疹，沿神經走向 (胸椎、三叉神經) 分佈，呈現帶狀，痛
        
        主要破壞神經元
    - - Hereditary motor & sensory neuropathies
        
        HMSN I : Charcot-Marie-Tooth disease
        
        Sensory，年輕成人
        
        症狀：
        
        Peroneal muscle atrophy
        
        Pes cavus 馬蹄足：足弓特別高起來
        
        基因突變：和 myelin 結構 & 聯繫蛋白相關基因 >> 主要傷害 myelin
        
        Demyelination、Hypertrophy (Onion bulbs)
        
        HMSN II : CMT 2
        
        Sensory，幼兒
        
        Demyelination、Axonopathy
        
        Kinesin family 基因異常>> 主要傷害axon / neuron
        
        HMSN III : Dejerine-Sottas Neuropathy
        
        Autonomic，幼兒
        
        症狀：
        
        Peripheral nerve變大
        
        四肢、身體肌肉萎縮
        
        Heterogeneous myelin-associated gene
      - Hereditary sensory & autonomic neuropathy (RARE)
      - Familial amyloid polyneuropathies
        
        體染色體顯性
        
        Transthyretin (TTR) gene異常
        
        血管壁出現amyloid deposits & endoneurium
        
        Atonal degeneration
      - Peripheral neuropathy accompanying metabolic disorders
    - - Adult-onset DM
        
        Subtype
        
        Distal symmetric sensory and sensorimotor neuropathy
        
        Autonomic neuropathy
        
        Focal / multifocal asymmetric neuropathy
      - Metabolic & Nutritional peripheral neuropathy
      - Toxic neuropathy
    - - 修復時可能產生良性的traumatic neuroma
    - - Peripheral nerve tumor
        
        Schwannoma
        
        Neurofibroma
- - - - Rheumatoid arthritis
        
        Pathology- non suppurations proliferation & inflammatory synovitis
        
        (B) Synovial hypertrophy with formation of villi
        (C) Subsynovial tissue containing a dense lymphoid aggregate
        
        Top: Rheumatoid nodule 於壞死區域
        Macrophages和慢性發炎細胞以palisade柵狀樣子排列
      - Juvenile idiopathic arthritis
      - Infectious arthritis
        
        Bacterial staphylococcus
        
        Tuberculous
        
        Lyme
        
        Viral
      - Crystal induce arthritis
        
        Gout
        
        Pathology
        
        Great toe with white tophi 於關節、軟組織
        
        Gouty tophus: Urate crystals 被 reactive fibroblast, mononuclear inflammatory cells, giant cells 包圍
      - Osteoarthritis
        
        Pathology
        
        Eburnated articular surface
        
        Subchondral cyst
        
        Residual articular cartilage
      - Seronegative Spondyloarthropathies
        
        Ankylosis spondyloarthritis
        
        Reiterate syndrome
        
        Enteritis-associated arthritis
        
        Psoriatic arthritis
        
        HLA-B27
        
        Extra-articular involvement
- - - - 原因：應力超過強度產生的結構破壞
        
        分類
        
        修復過程
        
        影響修復因素：移動、位移、感染、年齡身體條件
    - - Trauma
        
        Corticosteroid
        
        Alcohol abuse
        
        Idiopathic
      - *病理：Subchondral infarcts >>
        
        wedge-shaped壞死於subchondral space + cleft formation
        
        Articular-cartilage 仍完好
        
        Necrotic adipocytes >> saponification
        
        Healing >> **creeping substitution恢復慢
        
        Chronic progressive pain*
    - - Pyogenic
      - Tuberculous
      - Skeletal syphilis (Osteochondritis, periostitis)
    - - Bone-forming tumor
        
        Osteoma
        
        Osteoid osteoma & Osteoblastoma
        
        主要發生在小孩，而且很痛
        
        Osteosarcoma (有局部侵犯轉移)
        
        大部分在長骨兩端(骨遘端)
        
        青春期與老人常見
        — Primary：年輕，underlying bone 正常
        — Secondary：年長，輻射、梗塞、paget disease、underlying bone 改變
        
        Conventional type 最常見
        
        High-grade 惡性：complex mutations RB1, TP53, INK4a。
        
        不管細胞看起來像什麼樣子 (Osteoblastic, Chondroblastic, Fibroblastic)，都會製造 bone / bone matrix (Osteoid)
        
        Pathology: Lacelike pattern (anaplastic malignant tumor cells) ➡️ 一般惡性特性
      - Cartilage-Forming Tumors
        
        Osteochondroma
        
        良性、常見、Rarely malignancy
        
        生長板長偏： cartialge-capped bony projection於骨頭表面
        
        會出現顯性遺傳的 syndromic cases: Hereditary multiple osteochondromas
        
        EXT1 / EXT2 gene 造成 chondrocytes突變
        
        Enchondromas
        
        良性，從殘存生長板長出
        
        Endochondral origin，於 medullary cavity
        
        會出現 Syndrome:
        — Ollie’s disease：non-hereditary, multipleenchondromas
        — Maffuci syndrome ：Ollie’s disease + Hemangiomas
        
        幾乎都是 IDH1/IDH2突變
        
        Pathology: 正常的 Cartilage (藍白細胞 + Lacuna cells) 長成 nodule
        
        Chondroblastoma
        
        Chicken wire-like pattern
        
        Chondromyxoid fibroma
        
        Stellate & spindle cells surrounded by myxoid matrix
        
        Chondrosarcoma (Pelvic, Sacrum易為惡性)
        
        Anaplastic chondrocytes
      - Fibrous & Fibro-osseous tumors
        
        Fibrous cortical defect & Non-ossfying fibroma
        
        良性：Spindle cells + Scattered Osteoclast-type giant cells
        
        Fibrous dysplasia
        
        Curvilinear trabeculae of woven bone
        
        Lack conspicuous osteoblasts rimming
        
        Fibrosarcoma
      - 雜
        
        Ewing sarcoma / Primitive neuroectodermal tumor
        
        Small round cells
        
        Small amounts of clear cytoplasm
        
        Giant-cell tumor
        
        Benign but locally invasive
        
        Background: Mononuclear stromal cells，周圍被macrophages + osteoclast-like giant cells包圍
        
        好發於膝蓋、sacral spine、橈骨遠端
        
        發展難預測，復發率高
        
        Pathology:
        — Neoplastic: Mononuclear cells
        — Reactive change:Multinucleated giant cells ➡️ 似單核細胞融合起來
        — Osteoclastic type：自己會形成一坨坨
        — Secondary changes：
        (1) Hemorrhage, Aneurysmal change & hemosiderin
        (2) Fibroblasts & Fibrosis
        (3) Macrophages & Chronic inflammation
        (4) Cystic change
        
        Aneurysmal bone cyst
        
        Blood-filled cystic space
        
        Wall with proliferating fibroblasts
      - 轉移而來
        
        成人 75%來自 Lung、Thyroid、Kidney、Breast、Prostate (口訣：L.T.K.BP 劉堂桂教授量血壓)
        
        大部分血形轉移
        
        主要在red marrow，Axial skeleton 血液供應充沛處
        
        可以是pure lytic/pure blastic — prostatic adenocarcinoma/mix
        
        最常見骨頭的惡性腫瘤，看到multifocal lesion時可懷疑
    - - Nuclear Proteins & Transcription Factors 異常
        
        先天性未發育、發育異常、數目過多
        
        表現：多指、缺指掌骨、駢指(手指黏在一起)；脊柱裂
        
        Homebox gene 異常
      - Hormones & Signal Transducion 異常
        
        Paracrine 細胞功能失常
        
        FGFR3 mutation—achondroplasia、Thanatophoric dwarfism 致死性侏儒症：頭大、四肢相對短小
      - Extracellular structural protein 異常
        
        Collagen defect
        
        Type 1 — Osteogenesis imperfecta 骨生成不全（玻璃娃娃）
        a. 多處長骨骨折
        b. Accordion-like shortening of the limb
        
        Type 2 – Achondrogenesis
        
        Type 9 — Multiple epiphyseal dysplasia
        
        Type 10 — Schmid metaphysical condrodysplasia
      - Metabolic Pathways 異常
        
        Osteopetrosis 骨石化症
        
        Carbonic Anhydrase II 無法移除舊礦物質
        
        表現：骨髓腔消失、神經壓迫、骨骼變脆
      - Decreased Bone Mass
        
        Osteoporosis
        
        （Primary）原因：年齡、活動量、基因、養分、賀爾蒙
        
        Secondary: Endocrine、Neoplasia、GI、Drug、Homocystinuria、Anemia
      - Osteoclast Dysfunction
        
        Pager disease
        
        混合基因與環境因素
        
        部分有家族史： SQTM1
        
        RANKL & RANK/OPG 異常
        
        會增加腫瘤發生機會
        
        3 Phases: Osteolytic / Mixed / Osteosclerotic phase
      - Mineral Homeostasis 異常
        
        Vit K 異常
        
        Rickets 佝僂症
        
        Osteomalacia 軟骨病
        
        Hyperparathyroidism
        
        Dissecting osteitis: osteoclasts 進入trabeculum中心
        
        Brown tumor
        
        Renal osteodystrophy
        
        原因：
        
        磷無法被排除(retention)導致鈣磷不平衡
        
        Secondary hyperparathyrodism
        
        Active Vitamin D 太少
        
        Metabolic acidosis
        
        Aluminum deposition
        
        Amyloid deposition