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Less common disorders:T

2025-04-29 生物化学 加入收藏
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSThrombocythemiaPrimary: cause
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMS
Thrombocythemia

  • Primary: cause unknown
  • Secondary: due to chronic inflammatory disorders, iron deficiency, acute infection, neoplasm, hemorrhage, or postsplenectomy
A clonal abnormality of a multipotent hematopoietic stem cell results in increased platelet production, although platelet survival is usually normal. If combined with degenerative vascular disease, may lead to serious bleeding or thrombosis.
  • Weakness, hemorrhage, nonspecific headache, paresthesia, dizziness, and easy bruising
Thrombophlebitis

  • Caused by endothelial damage, accelerated blood clotting, and reduced blood flow
Alteration in epithelial lining causes platelet aggregation and fibrin entrapment of RBCs, WBCs, and additional platelets; the thrombus initiates a chemical inflammatory process in the vessel epithelium that leads to fibrosis, which may occlude the vessel lumen or may embolize.
  • Varies with site and length of affected vein
  • Affected area usually extremely tender, swollen, and red
Tinea versicolor

  • Caused by Pityrosporum orbiculare ( Melassezia furfur ), which occurs normally in human skin
  • Unclear whether disorder is due to infectious cause or a proliferation of normal skin fungi
Nondermatophyte dimorphic fungus converts to the hyphal form and causes characteristic lesions. Invasion of the stratum corneum by the yeast produces C9and C11 dicarboxylic acids that inhibit tyrosinase in vitro.
  • Asymptomatic, well-delineated, hyperpigmented or hypopigmented macules occur on upper trunk and arms
Torticollis

  • Congenital: include malposition of head in utero, prenatal injury, fibroma, and interruption of blood supply
  • Acquired/acute: inflammatory diseases and cervical spinal lesions that produce scar tissue
  • Hysterical: psychogenic inability to control neck muscles
  • Spasmodic: organic CNS disorder
Contraction of the sternocleidomastoid neck muscles produces twisting of the neck and unnatural position of the head.Congenital:
  • Firm, nontender, palpable enlargement of the sternocleidomastoid muscle visible at birth
Acquired:
  • Recurring unilateral stiffness of neck muscles
  • Drawing sensation that pulls head to affected side
  • Severe neuralgic pain of head and neck
Tourette's syndrome

  • Autosomal dominant multipletic disorder
Obscure pathology; dopaminergic excess has been suggested because tics may respond to treatment with dopamine-blocking drugs.
  • Single or multiple motor tics that commonly affect the face, and phonic tics
Trachoma

  • Infection due to Chlamydia trachomatis
Chronic conjunctivitis due to C. trachomatis that leads to inflammatory leukocytic infiltration and superficial vascularization of the cornea, conjunctival scarring, and distortion of the eyelids. This cause lashes to abrade the cornea, which in turn progresses to corneal ulceration, scarring, and blindness.
  • Mild infection resembling bacterial conjunctivitis; red and edematous eyelids, pain, photophobia, tearing, and exudation
Trichomoniasis

  • Infection of the genitourinary tract due to Trichomonas vaginalis
T. vaginalis infects the vagina, urethra and, possibly, the endocervix, bladder, or Bartholin's or Skene's glands. In males, it infects the lower urethra and possibly the prostate gland, seminal vesicles, and epididymis.In females:
  • Malodorous, greenish-yellow vaginal discharge; irritation of vulva, perineum, and thighs; dyspareunia; and dysuria
In males:
  • Generally asymptomatic; some transient frothy or purulent urethral discharge with dysuria and frequency
Trigeminal neuralgia

  • Cause unknown, possibly a compression neuropathy
  • At surgery or autopsy, the intracranial arterial and venous loops are found to compress the trigeminal nerve root at the brain stem
Painful disorder along the distribution of one or more of the trigeminal nerve's sensory divisions, most often the maxillary.
  • Searing or burning pain lasting seconds to 2 minutes at the trigeminal nerve distribution
  • Touching a trigger point often elicits pain
Trisomy 13 syndrome

  • Chromosomal disorder due to an extra chromosome 13 that is usually maternally derived; risk increases with advanced maternal age
Genes and chromatin carried on chromosome 13 occur in triple dose rather that the normal double dose, resulting in many developmental abnormalities.
  • Microcephaly with holoprosencephaly
  • Microphthalmia and orbital defects
  • Cleft lip and palate
  • Congenital heart defects
  • Flat, broad nose, low set ears, and inner ear abnormalities
  • Polydactyly of hands and feet; club feet
  • Cystic kidneys, hydronephrosis, cystic hygroma, omphaloceles, and genital abnormalities


 


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