Table 4.

Poikiloderma with Neutropenia: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Skin Dermatologic eval to assess for calcinosis cutis, cellulitis, palmar/plantar hyperkeratosis, & examine for evidence of non-healing ulcers & skin cancer
Dental Dental eval to assess for gingivitis &/or caries
Otolaryngology Otolaryngology eval for complications of chronic otitis media
Pulmonary Pulmonary consult to incl eval for bronchiectasis & granulomas & to assess for reactive airway disease
Hematology
  • CBC w/differential & platelet count
  • Hematology/oncology consultation to eval for need for bone marrow exam (e.g., if >1 cell line is abnormal on CBC)
Endocrine Assess growth & pubertal development in children,
Gastrointestinal
  • AST & ALT
  • GI eval if hepatosplenomegaly &/or ↑ liver transaminases are present
Development Developmental evalIn children age <5 yrs
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of PN to facilitate medical & personal decision making

ALT = alanine aminotransferase; AST = aspartate aminotransferase; CBC = complete blood count; MOI = mode of inheritance; PN = poikiloderma with neutropenia

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Poikiloderma with Neutropenia

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