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SUMMARY

 

1.  Poikiloderma with neutropenia is an autosomal recessive disorder characterized by the following clinical features:

 

- Progressive erythematous rash beginning in infancy
- Hyperkeratosis of the hands and soles
- Telangiectasias
- Poikiloderma (areas of hyper and hypopigmentation)
- Recurrent sinopulmonary infections

 

2.  Persistent severe neutropenia is a hallmark of this disease.  

 

 

                                                   

 

OVERVIEW

 

    Poikiloderma with neutropenia is an autosomal recessive disorder characterized by the following clinical features:

 

- Progressive erythematous rash beginning in infancy
- Hyperkeratosis of the hands and soles
- Telangiectasias
- Poikiloderma (areas of hyper and hypopigmentation)
- Recurrent sinopulmonary infections
- Persistent severe neutropenia

 

 

 

EVALUATION

 

    Currently the diagnosis of this disease is made based on classic clinical features.  Absolute neutrophil counts should be followed over time moderate to severe neutropenia is a key clinical feature.                                                                   

 

 

 

 

                                                                           

RESOURCES

 

 

Literature Resources

 

1. Concolino 2010

     Poikiloderma with neutropenia