Patients will often be seen once in the pigmentary service for clinical diagnosis, and then be followed up by the most appropriate team within GOSH or locally. There is significant overlap with the cutaneous mosaicism service and referrals to either will be accepted.
Conditions which can be referred to the pigmentary service
- Any undiagnosed condition involving increased or decreased skin pigmentation
- Suspected neurofibromatosis type 1
- Suspected tuberous sclerosis
- Melanocytic naevi, congenital or acquired
- Multiple lentigines
- Other RASopathies
- Phakomatosis pigmentovascularis
- Extensive dermal melanocytosis/Mongolian blue spots
- Naevus of Ota or Ito
- Hypomelanosis of Ito
- Hyperpigmentary or hypopigmentary mosaicism
- Naevus achromicus.
Genetic testing and analysis
We do not routinely offer genetic testing for neurofibromatosis or for tuberous sclerosis, but do refer to the appropriate teams to have these done where appropriate.
Research into pigmentary 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. This always involves a blood test and sometimes also a skin biopsy.