II. Epidemiology
- Incidence: 1 in 60,000 to 300,000 births
- Diagnosis often not identified until age 2-7 years
- Higher Prevalence in Ashkenazi Jews (Carriers: 1 in 89)
III. Pathophysiology
- Autosomal Recessive birth defect associated with VACTERL-H
- Hereditary Bone Marrow failure
IV. Signs
- Patchy brown Hyperpigmentation
- Cafe Au Lait spots
- Short Stature
- Microcephaly
- Hypogonadism
- Strabismus
- Renal hypoplasia
- Microphthalmia
- Mental Retardation
- Extra-digits or absence of digits
- Purpura
V. Labs
-
Complete Blood Count
- Pancytopenia including Neutropenia
- Chromosomal Breakage with exposure to deiepoxybutane
VI. Management
- Corticosteroids
- Maintenance androgen therapy
- Avoid Alcohol and other toxic substances
- Use sun protection (Sunscreen)
- Monitor for hematologic abnormalities
- Transfuse for severe cytopenias as needed
- Consider Bone Marrow Transplant
- Consider Danazol
VII. Complications
- Malignancy (esp. Acute Myelogenous Leukemia)
- Bone Marrow Failure (often by 7 years of age)
VIII. References
- Lee (1999) Wintrobe's Hematology, Lippincott, p. 1473
- Alter (1996) Am J Hematol 53(2):99-110 [PubMed]
- Da Costa (2001) Curr Opin Pediatr 13(1): 10-5 [PubMed]
- Kim (2025) Am Fam Physician 112(6): 618-28 [PubMed]
- Krijanovski (1997) Hematol Oncol Clin North Am 11:1061 [PubMed]