Passmedicine - psorasis , AD , ear irrigation ,sebhorrhoeic dermaitis etc

Question 1

What is Beckwith - Wiedemann syndrome ?

Answer 1

Overgrowth syndrome

FEATURES

o Infants larger than normal (macrosomia) and larger during childhood (growth slows around 8 )
Hemihyperplasia - one side can grow large - uneven appearance

o Macroglossia - large tongue
(can effect breathing , swallowing )

o Visceromegaly - large organs

o creases / pits nears ear

o Hypoglycemia

o kidney abnormalities

• Increased risk of Wilms Tumour (Kidney cancer ) 7 Hepatoblastoma ( form of liver cancer )
• usually occur in childhood.

Question 2

What is Wilms’ Tumour ?

Answer 2

Renal cancer in children - most common form in children (2- 5 years )

PRESENTATION
MAIN
- Unilateral abdominal / flank mass

• Painless

can present rapidly bilaterally.- rare

Other

• Pallor - anaemia

0 Abdominal distension - growing tumour (rapid0
)

• Abdominal pain - either due to tumour rupture etc.

RISK FACTORS
- Personal / family Congenital overgrowth syndromes
(Beckwith Wiederman )

or Urogenital syndromes

• Hypospadias - opening of urethra opens elsewhere - underside of penis vs tip.
• Ambigous genitalia
• Cryptorchidism - undescended testes.

Congenital overgrowth syndromes e.g.
Beckwith
o Perlman syndrome - large babies , large heads , kidneys , liver . May have :
-low muscle tone
- distinctive facial features - big forehead
- Developmental delay.

o Sotos Syndrome
- Distinctive facial features 
o narrow head
o small pinted chin
o flush/reddenened cheeks. 
o High forehead

-Large infant / child- usually become nomal height in adulthood.

Simpson-Golabi-Behmel syndrome -

• Macrosomia (large baby )
• Macroglossia
• Macrostomia - large mouth
• Furrowed tongue - deep groove down middle
• ocular hypertelorism (widely spaced eyes )
• extra nipples
• ublical hernias
• heart defects
• large / malformed kidney
• Hepatosplenomegaly
  interlectual disability , varies - mild to severe

nephrectomy, chemotherapy, and radiotherapy.

Question 3

What are Piles ?

Answer 3

Hemorrhoids / Hemorrhoidal disease

Hemorrhoidal disease occus when the hemorrhoidal vein/plexus inside the cushions and enlarge causing swelling and a lump to form at the anus.

TYPES

Internal - above dentate lie

External - Below dentate line

these hamorrhoids can become thrombosed when a blood clot forms in the vein , obstructing blood flow & causing a painful swelling. not dangerous - BUT VERY PAINFUL & CAN CAUSE RECTAL BLEEDING) - external thrombosed H are much more common than internal.

• dentate / pectinate lne - line divides the upper third & lower 2/3rds of anal canal.

CHARACTERISTICS

• Perianal pain/ discomfort
• Rectal bleeding (MOST COMMON SYMPTOM) - Bright bleeding associated with defecation or straining at stool.
• Anal mass (Prolasping
  hemorrhoid)
• Anal pruritis (itch)
• Thrombosed - Black - bluish (blue) colour lump

RISK FACTORS

• Constipation
• Pregnancy or space - occupying pelvic lesion (ovarian cysts etc)
• Age - 45-65 yrs
• Hemorrhoids are often used interchangable with hemorrhoidial disease - but Hemorrhoids are normal acts a anal cushions, protecting anal sphincter & prevent incontinence when abdominal pressure increases.

They are clusters of :

• smooth muscle
• elastic connective tissue
• highly vasculalised structures.

Question 4

Diagnosis of perianal mass ?

Answer 4

Anoscopic examination
(Anoscope inserted into anus to visualise anal - rectal areas. 

Colonscopy / flexible sigmoidoscopy - used to exclude other serious pathology e.g. IBD or cancer . If presence of supcious symptoms e.g. Altered bwel havit , abdo pain, weight loss , anameia etc

0 FBC - only if there has been period of prolonged bleeding & signs of anaemia

0 Stool for occult haem - only if no signifcant haemorrhoidal tissue is seen on exam.

• if Positive suggest - Piles
• if negative - no further evaluation is needed.

Question 5

Grades of Haemorrhoids ?

• Just for knowlegde

Answer 5

Grade I hemorrhoids project into the anal canal and often bleed but do not prolapse

Grade II hemorrhoids may protrude beyond the anal verge with straining or defecating but reduce spontaneously when straining ceases (ie, return to their resting point by themselves)

Grade III hemorrhoids protrude spontaneously or with straining and require manual reduction (ie, require manual effort for replacement into the anal canal)

Grade IV hemorrhoids chronically prolapse and cannot be reduced; these lesions usually contain both internal and external components and may present with acute thrombosis or strangulation

Question 6

How are Haemorrhoids treated ?

Answer 6

ALL PATIENTS

1ST LINE

Diet + lifestyle modifications
(increased fibre intake & adequate fluid intake)
(this is needed for all sections and lines of treatment)

GRADE 1

1ST LINE

0 Topical Corticosteriods

GRADE 2 Prolasping internal haemorrhoids

1ST LINE

TC

+

either of these :

0 Rubber band ligation

0 Sclerotherapy (S) (injection chemical to destroy haemorrhoid)

0 infrared photocoagulation (IPC) (infrared radiation targets haemorrhoid)

(S & IPC more suitable for smaller haemorrhoids e.g grade 1 &2)

0 Haemorrhoid artery ligation (ligate terminal braches of superior rectal artery)

0 stapled haemorrhoidopexy

GRADE 3 Prolasping internal H

1ST LINE

Rubber band ligation (this uses a anoscope to put rubber band etc)

GRADE 4 nternal, external, or mixed internal and external haemorrhoids

IF grade any of the grade 2 or 3 doesnt work do:

Surgical haemorrhoidectomy

1ST LINE - Surgical haemorrhoidectomy