Endogenous Pigments and Melanism Disorders
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Questions and Answers

What is the genetic basis for generalised hypopigmentation in albinism?

  • Genetic defect in the enzyme tyrosinase (correct)
  • Deficiency of melanin receptors
  • Complete absence of melanocytes
  • Increase in melanocyte activity
  • What are common features of oculocutaneous albinism?

  • Dark hair and increased melanin in skin
  • Pigmented skin and normal vision
  • Blond hair, poor vision, and severe photophobia (correct)
  • Localized pigmentation and increased sunlight tolerance
  • Which condition is characterized by localized loss of pigmentation in the skin?

  • Generalized hyperpigmentation
  • Leucoderma (correct)
  • Albinism
  • Photodermatitis
  • What is a common risk associated with chronic sun exposure in individuals with albinism?

    <p>Squamous and basal cell cancers of the skin</p> Signup and view all the answers

    What distinguishes vitiligo from leucoderma?

    <p>Vitiligo is more common and may have a familial tendency</p> Signup and view all the answers

    What is the role of tyrosinase in melanocyte cells?

    <p>It synthesizes melanin from tyrosine.</p> Signup and view all the answers

    Which of the following conditions is associated with generalised hyperpigmentation?

    <p>Addison’s disease</p> Signup and view all the answers

    What is the DOPA reaction used to identify?

    <p>Activity of tyrosinase in the tissue.</p> Signup and view all the answers

    Café-au-lait spots are commonly seen in which condition?

    <p>Neurofibromatosis</p> Signup and view all the answers

    Which entity is indicative of focal hyperpigmentation around the mouth?

    <p>Peutz-Jeghers syndrome</p> Signup and view all the answers

    Rain-drop pigmentation is associated with which type of poisoning?

    <p>Chronic arsenical poisoning</p> Signup and view all the answers

    What typically characterizes lentigo?

    <p>Focal hyperpigmentation on body extremities.</p> Signup and view all the answers

    Melanin is NOT normally found in which of the following locations?

    <p>Bone marrow</p> Signup and view all the answers

    Study Notes

    Endogenous Pigments

    • Endogenous pigments are normal cellular components or accumulated substances (melanin, alkaptonuria products, haemoprotein-derived pigments, lipofuscin)
    • Melanin is a brown-black pigment found in hair, skin, mucosa (in places), choroid, meninges, and adrenal medulla.
      • Synthesised in melanocytes and dendritic cells (basal epidermis).
      • Stored in cytoplasmic granules of melanophores (underlying dermis).
      • Melanocytes contain tyrosinase, for melanin synthesis from tyrosine.
      • Tyrosinase inactivity may result in no visible melanin.
      • DOPA reaction (incubating tissue in DOPA) detects tyrosinase presence (dark pigment) - distinguishes amelanotic melanoma.

    Melanism Disorders

    • Generalised Hyperpigmentation:

      • Addison's disease: Skin (light-exposed areas) and buccal mucosa hyperpigmentation.
      • Chloasma (pregnancy): Face, nipples, genitalia hyperpigmentation (due to oestrogen). Similar appearance in oral contraceptive users.
      • Chronic arsenical poisoning: "Rain-drop" skin pigmentation.
    • Focal Hyperpigmentation:

      • Café-au-lait spots: Pigmented patches in neurofibromatosis and Albright's syndrome.
      • Peutz-Jeghers syndrome: Peri-oral pigmentation.
      • Melanosis coli: Pigmented colon mucosa.
      • Melanotic tumours: Benign (pigmented naevi), malignant (melanoma); increased melanogenesis.
      • Lentigo: Pre-malignant condition; hyperpigmentation on hands, face, neck, arms.
      • Dermatopathic lymphadenitis: Melanin deposition in lymph node macrophages.
    • Generalised Hypopigmentation:

      • Albinism: Tyrosinase deficiency; no pigment in skin, blond hair, poor vision, severe photophobia, high sunlight sensitivity; pre-cancerous lesions and skin cancers possible with chronic sun exposure.
    • Localised Hypopigmentation:

      • Leucoderma: Autoimmune loss of skin pigmentation.
      • Vitiligo: Common local skin hypopigmentation (possible familial tendency).
      • Acquired focal hypopigmentation: Due to various causes.

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    Description

    Explore the fascinating world of endogenous pigments, including melanin production and its role in various skin conditions. This quiz covers melanin synthesis, disorders related to hyperpigmentation, and the impact of conditions like Addison's disease and chloasma. Test your knowledge on these crucial biological pigments and their implications.

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