Fanconi Anemia

• multisystem disorder
• AR inheritance
• predispostion to malignancy
• common in ashkenazi jews

Pathophysiology

• defective FA gene
• defect in DNA cross linking and repair

Clincial features

• bone marrow failure in 1st decade of life
  • short stautre
  • stabismus
  • low set ears, microopthalmia
  • abnormal/absent thumb
  • hypopigmented frickles, cafe-au-lait
  • aplastic anemia
  • hypothyrodism, hypopitutiriasm
  • ectopic/ horseshoe kidney
  • hypospadias, phimosis
  • VSD

Complication

• predispostion to maligancny
  • SCC of head and nec, esophagus, cervix
• complication of treatment (androgen therapy)
  • hepatic adenoma, peliosis

Diagnosis

• chromosomal breakage study with DEB and MMC

Management

• HSCT - definitive
• monitoring and cancer screening

Scwachman Diamond Sydnrome

• Ribosomopathy

Clinical features

• exocrine pancratic insufficiency
  • fatty replacement of pancreas
• neutropenia/ aancytopenia
• short staure
• metaphyseal dysplasia, short ribs, osteopenia

Diagnosis

• USG/CT
  • fatty replacement of pancreas
• pancreatic enzymes
  • low isoamylase and trypsinogen
• neutropenia
  • 70% at presntation, and 100% at follow up

differential

• pearson syndrome
  • fibrosis of pancreas
  • cytoplasmic vacuolization of bone marrow

complication

• carcinomas
  • MDS, AML
  • SCC

Treatment

• oral pancreatic enzymes
• G-CSF for neutropenia
• HSCT