Incontinentia pigmenti (Bloch–Sulzberger syndrome) – a diagnosis valid from birth

Abstract

Incontinentia pigmenti (IP, dye incontinence), or Bloch–Sulzberger syndrome, is a rare genodermatosis (1:40,000 to 1:50,000 births), inherited through a dominant X-linked conjugate, caused by mutations in the IKBKG/NEMO gene located on Xq28, often with eosinophilia. In most cases, the disease affects the female sex. In male fetuses, it is usually lethal.

Incontinentia pigmenti is a multi-system disease. Changes occur in tissues and organs derived from the ectoderm and neuroectoderm and may affect the skin and appendages, eyes, central nervous system, skeleton, and teeth. It is usually diagnosed neonatally or during infancy when a characteristic 4-stage evolution of skin lesions materializes – accompanied by abnormalities in other organs. Skin defects can occur in utero, in which case they are visible at birth.

The only treatment is symptomatic and involves proper skin care and prevention of secondary infections. The patient should have interdisciplinary care (dermatologist, neurologist, ophthalmologist, dentist) for the early diagnosis and treatment of possible disorders within other organs.

The low incidence of the syndrome may delay diagnosis.

The aim of this study is to present the characteristic symptoms of the disease, help clinicians make the right diagnosis and to emphasize the legitimacy of multi-specialist care.