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Less common disorders:S

2025-04-14 生物化学 加入收藏
佚名 DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSSarcoidosisCause unknown

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DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMS
Sarcoidosis

  • Cause unknown
  • Evidence suggests that disease is result of exaggerated cellular immune response to limited class of antigens
Organ dysfunction results from an accumulation of T lymphocytes, mononuclear phagocytes, and nonsecreting epithelial granulomas, which distort normal tissue architecture.
  • Mainly generalized, most commonly involving the lung with resulting respiratory symptoms
  • Fever, fatigue, and malaise
Scabies

  • Human itch mite ( Sarcoptes scabiei var. hominis )
Mite burrows superficially beneath stratum corneum depositing eggs that hatch, mature, and reinvade the skin.Occur from sensitization reaction against excreta that mites deposit
  • Intense itching, worsens at night; threadlike lesions on wrists, between fingers, and on elbows, axillae, belt line, buttocks, and male genitalia
Schistosomiasis

  • Blood flukes of the class Trematoda; Schistosoma mansoni and S. japonicum infect intestinal tract whereas S. haematobium infects the urinary tract
Infection follows contact by bathing with free swimming cercariae of the parasite, which penetrate the skin, migrate to intrahepatic portal circulation, and mature. Adult worms then lodge in venules of bladder or intestines.Depends on infection site and stage of disease. In initial stage:
  • Pruritic papular dermatitis at penetration site; fever; cough
In later stage:
  • Hepatosplenomegaly and lymphadenopathy
  • May cause seizures and skin abscesses
Shigellosis

  • Acute infectious inflammatory colitis due to Shigella organisms
Shigella is orally ingested or transmitted by fecal-oral route. Invasion of colonic epithelial cells and cell-to-cell spread of infection results in characteristic mucosal ulcerations.In children:
  • Fever, watery diarrhea, nausea, vomiting, irritability, and abdominal pain and distention
In adults:
  • Intermittent severe abdominal pain, tenesmus and, in severe cases, headache and prostration; fever is rare
  • Stools may contain pus, blood, or mucous
Silicosis

  • Exposure to high concentrations of respirable silica dust
Alveolar macrophages engulf respirable particles of free silica, which causes cytotoxic enzymes to be released. This attracts other macrophages into the area and produces fibrous tissue in the lung parenchyma. Note: Silicosis is associated with a high incidence of active tuberculosis.In simple nodular silicosis:
  • Cough and raise sputum, usually no symptoms
In conglomerate silicosis:
  • Severe shortness of breath, cough, and sputum; may lead to pulmonary hypertension and cor pulmonale
Sjogren's syndrome

  • Autoimmune rheumatic disorder with unknown cause; genetic and environmental factors may be involved
Lymphocytic infiltration of exocrine glands causes tissue damage that results in xerostomia and dry eyes.In xerostomia:
  • Dry mouth, difficulty swallowing and speaking, ulcers of tongue, buccal mucosa and lips, and severe dental caries
In ocular involvement:
  • Dry eyes; gritty, sandy feeling; decreased tearing; burning, itching, redness, and photosensitivity
Extraglandular:
  • Arthralgias, Raynaud's phenomenon, lymphadenopathy, and lung involvement
Sleep apnea

  • Caused by occlusion of airway (obstructive), absence of respiratory effort (central) or both
In obstructive sleep apnea, airflow ceases due to upper airway narrowing and glottal obstruction as a result of obesity or congenital abnormalities of the upper airway. When primary brain stem medullary failure occurs, patient may breathe insufficiently or not at all while asleep.In obstructive sleep apnea:
  • Snoring, excessive daytime sleepiness, intellectual impairment, memory loss, and cardiorespiratory symptoms
In central sleep apnea:
  • Sleeping poorly, morning headache, and daytime fatigue
Spasmodic torticollis

  • Cause unknown, believed to be a form of focal dystonia
Rhythmic muscle spasms of sternocleidomastoid neck muscles possibly due to irritation of the nerve root.
  • Unilateral, intermittent, or continuous painful spasms of the neck muscles
Spinal ischemia/infarction

  • Caused by direct vascular compression (tumors and acute disc compression) or by remote occlusion (aortic surgery and dissecting aneurysm)
Major arterial branches that supply the spinal cord can become compressed or occluded, decreasing blood flow to the spinal cord, causing ischemia of cord and resulting in motor and sensory deficiencies.
  • Sudden back pain and pain in distribution of affected segment followed by bilateral flaccid weakness and dissociated sensory loss below level of infarct
Sporotrichosis

  • Fungal infection due to Sporothrix schenckii , which occurs in soil, wood, sphagnum moss, and decaying vegetation
Inflammatory response includes both the clustering of neutrophils and a marked granulomatous response, with epithelioid cells and giant cells producing nodular erythematous primary lesions and secondary lesions along lymphatic channels in cutaneous lymphatic type. In pulmonary sporotrichosis, inflammatory response produces pulmonary lesions and nodules. In disseminated sporotrichosis, multifocal lesions spread from skin or lungs.In cutaneous or lymphatic sporotrichosis:
  • Subcutaneous, movable, painless nodule on hands or fingers that grows progressively larger, discolors, and eventually ulcerates; additional lesions form on the adjacent lymph node chain
In pulmonary sporotrichosis:
  • Productive cough, lung cavities and nodules, pleural effusion, fibrosis, and formation of fungus ball
In disseminated sporotrichosis:
  • Weight loss, anorexia, synovial or bony lesions and, possibly, arthritis or osteomyelitis
Spurious polycythemia

  • Due to conditions that promote dehydration (persistent vomiting or diarrhea, burns, and renal disease), hemoconcentration due to stress, or low normal plasma volume with high normal RBC mass
Concentration of RBCs in the circulating blood increases due to loss of blood plasma.No specific symptoms; following may present:
  • Headache, dizziness, and fatigue
  • Diaphoresis, dyspnea, and claudication
  • Ruddy complexion and short neck
  • Slight hypertension
Stomatitis

  • Acute herpetic due to herpes simplex virus
  • Aphthous cause is unknown; predisposing factors include stress, fatigue, fever, trauma, and solar overexposure
Inflammation of the cells of the oral mucosa, buccal mucosa, lips and palate with resulting ulcers.
  • Papulovesicular ulcers in mouth and throat, mouth pain, malaise, anorexia, and swelling of mucous membranes
Strabismus

  • Eye malalignment that is frequently inherited; controversy exists whether amblyopia is caused by or results from strabismus
In paralytic (nonconcomitant) strabismus, paralysis of one or more ocular muscles may be due to oculomotor nerve lesion. In nonparalytic (concomitant) strabismus, unequal ocular muscle tone is due to supranuclear abnormality within the CNS.
  • Noticeable eye malalignment by external eye examination, ophthalmoscopic observation of the corneal light reflex in center of pupils, diplopia, and other visual disturbances


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