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Disease: Macules hereditary congenital hypopigmented and hyperpigmented

  • CafĂ©-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome
  • Cutis tricolor of pure cutaneous trait as leukoderma and nevus spilus
  • Cutis tricolor parvimaculata in two patients with ring chromosome 15 syndrome
  • Cutis tricolor parvimaculata: a distinct neurocutaneous syndrome?
  • Hereditary congenital hypopigmented and hyperpigmented macules
  • Hereditary congenital hypopigmented and hyperpigmented macules (Westerhof syndrome) in two siblings
  • Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria
  • Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita
  • Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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