Incontinentia pigmenti.
Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genodermatosis related to the NF kappa B essential modulator (NEMO) gene with approximately 800 cases reported worldwide. It usually occurs in females characterized by cutaneous, skeletal, neurological, ocular and dental abnormalities as well as an increased risk of childhood malignancies. Herein, we report a case of IP in a 14-year-old girl emphasizing early diagnosis and adding to the current literature on the subject.
Motamedi
Mohammad Hosein Kalantar
MH
Department of Pathology, Trauma Research Center, Baqiyatallah University of Medical Sciences, and Attending Surgeon, Azad University of Medical Sciences, Tehran, Iran.
Lotfi
Ali
A
Azizi
Taghi
T
Moshref
Mohammad
M
Farhadi
Sareh
S
D002648:Child; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000473:pathology*; D008437:Maxilla / Q000473:pathology; D008853:Microscopy; D009264:Nails, Malformed / Q000473:pathology; D012867:Skin / Q000473:pathology; D050277:Toe Phalanges / Q000473:pathology; D014070:Tooth / Q000473:pathology