Hemihypertrophy

Definition

 

Asymmetry between L and R side more than due to normal variation

 

Upper limb hemiatrophy

 

Prevalence

 

Difficult to determine because no precise definition

 

Difficult to differentiate hemihypertrophy from normal variation

- enlargement soft tissues & bones also

 

Incidence

- 1/13 000 combined

- 1/86 000 non-syndromic

 

Non syndromic hemihypertrophy associated with 4% incidence tumours

 

Aetiology

 

Unknown

 

Non-syndromic is sporadic

 

Clinical Features

 

Rarely apparent at birth

- thicker skin, more hair, accelerated bone age on involved side

- ipsilateral paired organs increased in size also

 

Associations

 

Non-syndromic hemihypertrophy

 

Inguinal hernias

 

Genitourinary

- renal cysts

- cryptorchidism

- sponge kidney

- horseshoe kidney

 

Scoliosis

- non-structural

- compensatory to pelvic obliquity

 

Syndromic hemihypertrophy

 

Associated with cutaneous and vascular lesions

 

Classification

 

Total 

- involvement of ipsilateral paired organs

 

Limited 

- also divided as per extent of involvement

  

Classic hemi - UL & LL

Segmental - UL or LL

Facial - head and neck only

Crossed - opposite UL & LL

 

Diagnosis

 

Normal population may differ up to 1-2 cm in length and circumference

 

Rush and Steiner 1946

- 1000 US army recruits

- 23% equal leg lengths

- 77% 0.75 cm

- 15% > 1 cm

 

1cm difference

- in adolescent within normal

- in infant in pathological range   (4.2%)

 

Hemiatrophy V's hemihypertrophy

 

Compare length of L and R tibia and femora with normal standards

 

Hemiatrophy 

- no association with tumours

 

Non-syndromic hemihypertrophy / Beckwith-Weidermann syndrome

- are at increased risk for intraabdominal tumors 

 

DDX of non-syndromic hemihypertrophy

 

1. Beckwith- Weidmann syndrome

2. NF

3. Klippel-Trenaunay-Weber syndrome

4. Proteus syndrome

5. Malignant tumours

6. Olliers

7. Fibrous dysplasia

8. Poliomyelitis

9. Spastic hemiplegia of CP

10. Russell-Silver synd (short, cafe-au-lait spots, clinodactaly, hemiATROPHY)

11. JCA or haemophilia (secondary to hyperaemia)

12. XRT

13. Conradi-Hunnerman (chondrodysplasia punctata)

 

(5 - 13 may have contra-lateral shortened limb)

 

50% of hemihypertrophy will have syndrome

 

Beckwith-Weidermann Syndrome

 

Features

 

Pre / postnatal overgrowth, birth weight > 90 %

- neonatal hypoglycaemia

- macroglossia

- hemihypertrophy occurs in 13%

 

Predisposition for embryonal tumors (Wilms)

 

Aetiology

 

Genetic abnormality Chr 11 p15

- near gene for IGF -II

- AD transmission but most sporadic

 

Management

 

Need abdominal US

 

BWS with hemihypertrophy c.f. BWS without hemihypertrophy 

- risk embryonal tumour

- 27 V's 9%

 

Neurofibromatosis

 

NF1 may have overgrowth digit or limb

 

Klippel-Trenaunay-Weber

 

Characteristed by Hemihypertrophy + vascular malformations

 

AV Malformation Arm

 

Problems

- varicose veins

- port-wine nevi

- cutaneous and subcutaneous capillary haemangiomas

- cavernous haemangiomas

 

Proteus Syndrome

 

Name after Greek god who could change shape

 

Vascular + lymphatic malformations + lipomas

 

Features

- haemangiomas

- lipomas

- lymphangiomas

- macrocephaly

- hyperostosis skull

- overgrowth long bones