The number of cutaneous disorders of mosaicism is obviously much higher than the few examples below. However, these have been selected for being more representative of the disorders in the group.

  • Congenital melanocytic naevus syndrome and other melanocytic naevus syndromes                     
  • Schimmelpenning Syndrome/Phakomatosis Pigmentokeratotica
  • Hypomelanosis of Ito and other pigmentary mosaic disorders
  • Proteus Syndrome
  • PIK3CA related overgrowth syndromes
  • Papillomatoses ; Pigmentovascularis/Extensive Dermal Melanocytosis/Sturge Weber syndrome
  • Klippel-Trenaunay-Weber syndrome
  • Inflammatory Linear Verrucous Epidermal Naevus and other keratinocytic epidermal naevi
  • Undiagnosed mosaic disorders
  • Specific challenges associated with the recognition of the condition  :

Diagnosable only by experts as rare

  • Specific challenges associated with the diagnosis :

Need full assessment of the child, skin and other systems, genetic diagnosis only from skin biopsy and sequencing

  • Specific challenges associated with the treatment :

Untreatable currently, need multidisciplinary management of complications

  • Specific challenges associated with  care of these patients over their lifespan – Quality of life issues – Gaps accross the care continuum :

Need an expert to coordinate the different strands of care, and to watch for serious complications, often poor transition to adult care as not available

 

 

 

 

 

 

 

 

 

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