WILSONS DISEASE

Muhad Noorman P, Team Dentowesome, Final year

Reference: Davidsons Internal medicine , Internet

Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper overload in the body.

Common cause of liver cirrohsis in children.

Etiology:- A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease

Clinical Features:-

Liver related
Nausea, weakness, vomiting, jaundice, bloating, spider angiomas, muscle cramps etc..

Neurological
Memory, Speech impairments. Altered gait, personality changes, headache, insomnia etc…

Characteristic clinical signs:- SUNFLOWER CATARACT AND KAYSER-FLEISCHER RINGS. KF rings are golden brown ring like discoloration of eyes due to copper deposition.

Lab investigation:- Altered Liver enzymes
Elevated Serum copper level
Increased urinary copper excretion. Low Serum ceruloplasmin level. Liver biopsy will reveal copper deposition. Imaging like MRI/CT for lenticular imaging.

Treatment:-. Copper chelating agents like d-penicillamine, Trientine etc.. can be used. Oral Zinz tetrathiomolybdate can be given ti reduce dietary absorption of Copper.

HEAMOCHROMATOSIS

Muhad Noorman P, Final year, Team dentowesome

Abnormal accumulation of Iron in Liver , Pancreas and heart causing widespread damage of organs resulting in cirrohsis and diabetes mellitus.

Also known as Celtic Curse or Bronze diabetes

Autosomal recessive transmission due to HEF gene mutation.

Clinical features:-

Male : Female ratio = 10:1. Weaknesses, lethargy, diabetes mellitus, liver cirrohsis , arthralgia, skin hyperpigmentation, impotence, hepatomegaly, hypogonadism.

Lab investigation:- Serum Iron
Transferrin saturation > 45%. Plasma ferritin > 200 ng/ml. Liver biopsy (gold standard) > 1000 MCG/L. DNA Mapping study for gene mutation.

Treatment:- Venesection for all people with Iron biochemical overload. Chelating agents like Desferoxamine can be also taken.

References: DAVIDSONS INTERNAL MEDICINE, INTERNET

Purpura :-

It is purpulish discoloration of skin and mucous membrane due to sub-cutaneous and sub-mucous extravasation of blood.

Clinical features :-

  • Occurs among adults below 40 years
  • Females are more affected
  • Bleeding spots on skin or mucosal surface
  • Women may have menses or bleeding between periods
  • Bleeding into TMJ results in pain and trismus
  • Gingival bleeding

Treatment :-

  • Steroid therapy
  • Repeated blood transfusion
  • Splenectomy
  • Immunosuppresive drug therapy

Reference :-

Image :- Google
Writing :- notes made from mastering bds and Sanjay Kumar Purkait books

Dysplasia :-

It is histological cannotation to premalignance marked by abbarent and uncoordinated cellular proliferation depicted at cellular level as atypia which is reflected as dysplasia.

An oral precancerous lesion, also called dysplasia, is a growth that contains abnormal cells confined to the lining of the oral cavity, or mouth. This lining is called the mucosa. It covers the inside of the cheeks, the inside of the lips, the gums, the tongue, and the roof and floor of the mouth.

Dysplasia can be mild moderate and severe.

Clinical features :-

  1. Increased mitosis
  2. Loss of basal polarity
  3. Hyperchromatism of cell
  4. Increased nuclear cytoplasmic ratio
  5. Nuclear atypia
  6. Large prominent nucei
  7. Epithelial pearl
  8. Individual cell keratinisation

Treatment :-

  • NSAIDs for pain and inflammation medical treatment.
  • Excision of the part which is affected along with some part of healthy tissue. This is done under anesthesia.

Reference :-

Image :- Google
Writing :- notes made from mastering bds and Sanjay Kumar Purkait books

Luxation of TMJ :-

TMJ has hinge like junction.

Luxation occurs when :-

  1. Overextension of TMJ
  2. Isolated injury or associated with maxillofacial injuries

Luxation is unilateral but bilateral Luxation also occurs.

Clinical features :-

  • Inability to close mouth
  • Head trauma
  • No deviation of mandible
  • Lower jaw deviated away from luxated side
  • Pain may occur in some cases
  • Inflammation may be seen

Treatment :-

  • NSAIDS should be the medical treatment
  • Closed reduction
  • Fulcrum should be placed
  • Open reduction or mandibular condylectomy are indicated

Reference :-

Image :- Google
Writing :- notes made from mastering bds and Sanjay Kumar Purkait books

Ankylosis of TMJ :-

It is one of most incapacitating of all diseases involving this structure.

Types :-

  • In Complete Ankylosis i.e there is limitation of motion.
  • In Unilateral Ankylosis i.e chin is displaced.
  • In Intra-articular Ankylosis, joint undergoes progressive destruction.
  • In Extra-articular Ankylosis, splitting of TMJ.

Clinical features :-

  • Occurs before 10 years of age
  • Equal sex distribution
  • Restriction in opening of mouth
  • Injury at infancy or childhood, there is associated facial deformity.
  • Pain may occur in some cases
  • Inflammation may be seen

Treatment :-

  • NSAIDS can be use as medical treatment.
  • Surgical methods like condylectomy intraoral coronoidectomy, ramus osteotomy, high condylectomy, forceful opening of the jaw under general anesthesia, lysis of adhesions of the pterygoid space.

Reference :-

Image :- Google
Writing :- notes made from mastering bds and Sanjay Kumar Purkait books