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Conradi-Hünermann-Happle syndrome with minimal signs.

Manuel Agud-DiosNelmar Valentina Ortiz CabreraLucero Noguero-MorelAngela Hernández-MartínIsabel ColmeneroRudolf HappleAntonio Torrelo
Published in: Pediatric dermatology (2021)
A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.
Keyphrases
  • case report
  • physical activity
  • genome wide
  • copy number
  • single cell
  • gene expression
  • lower limb
  • wound healing
  • genome wide identification
  • optical coherence tomography