Infant with abnormal pigmentation, malformations, and immune deficiency

Arch Dermatol. 1978 Jul;114(7):1043-4.


An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple*
  • Cleft Palate / complications
  • Ductus Arteriosus, Patent / complications
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Infant
  • Infant, Newborn
  • Limbic System / abnormalities
  • Male
  • Pigmentation Disorders / complications*
  • T-Lymphocytes / immunology