Clinic

• • Neutropenia, abn skin pigmentation, dystrophic nails, leukoplakia

  • Nail dystrophy, early hair graying or loss, leukoplakia, hyperpigmented rash, dysmorphic teeth, enamel hypoplasia, restrictive pulm dz, or pulm vasc dz

Definition

• • extremely rare autosomal recessive disorder that causes multifactorial immunodeficiency, pancreatic insufficiency, neutropenia, orthopedic anomalies, and FTT

Clinic

• • Exocrine pancreatic insufficiency, short stature, skeletal anomalies, transient transaminitis

  • mild–mod neutropenia + exocrine pancreatic insuff, short stature, metaphyseal dysplasia. ↑ risk for MDS/AML

Treatment

• • GCSF and prophylactic antibiotics

  • Pancreatic enzyme supplementation

  • Bone marrow transplant

Complications

• • associated with ↑ risk of AML and/or myelodysplastic syndrome