A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features

Eur J Med Genet. 2016 May;59(5):283-9. doi: 10.1016/j.ejmg.2016.03.002. Epub 2016 Mar 12.


Neurocutaneous disorders represent a heterogeneous group of conditions affecting the skin (with pigmentary/vascular abnormalities, hamartomas or tumors) and the central and peripheral nervous systems. In recent years, besides the well-known neurocutaneous diseases (e.g., the different forms of neurofibromatosis, tuberous sclerosis complex, Sturge-Weber syndrome and mosaic pigmentary/hamartomatous disorders), new distinctive syndromes have been characterized, extending our knowledge on the spectrum of these conditions. The concurrent presence of pigmentary abnormalities (both of the hypo- and hyperpigmented type), and primary microcephaly has not been commonly reported. We report on a 4.5-year-old girl with primary microcephaly, who had in addition moderate to severe developmental delay, behavioral and stereotypic abnormalities and a cutaneous pattern of paired hypo- and hyperpigmented lesions variously distributed over the body, particularly on the trunk. Failure to thrive and mild facial dysmorphic features were also present. To our knowledge, this complex malformation (neurocutaneous) phenotype has not been previously reported.

Keywords: Hyperpigmented macules; Hypopigmented macules; Neurocutaneous syndromes; Primary microcephaly; Short stature.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Developmental Disabilities / complications
  • Developmental Disabilities / physiopathology*
  • Female
  • Growth Disorders / complications
  • Growth Disorders / physiopathology*
  • Humans
  • Microcephaly / complications
  • Microcephaly / physiopathology*
  • Neurocutaneous Syndromes / complications
  • Neurocutaneous Syndromes / physiopathology*
  • Phenotype
  • Skin Abnormalities / physiopathology