Patients will often be seen once in the mosaicism service, have phenotyping and genetic investigations, and then be followed up by the most appropriate team within GOSH or locally.
Conditions which can be referred to the mosaicism service
- Any undiagnosed condition suspected to be due to cutaneous mosaicism
- Congenital melanocytic naevi
- Sturge-Weber syndrome
- Phakomatosis pigmentovascularis
- Extensive dermal melanocytosis
- Naevus of Ota or Ito
- PIK3CA-related overgrowth spectrum
- Proteus syndrome
- Hypomelanosis of Ito
- Hyperpigmentary or hypopigmentary mosaicism
- Naevus achromicus
- Mosaic neurofibromatosis type 1.
Genetic testing and analysis
Where the genes are already known for particular diagnoses we offer blood tests and skin biopsies with genetic testing done in the diagnostic laboratories in GOSH.
Research into mosaic disorders
Where the genes are not already known for particular diagnoses, or where there is no diagnosis, or if the known genes transpire to be normal, we offer patients further investigation on a research basis.