Congenital disorder characterized by hypopigmented
whorls of skin along the line of Blaschko and associated with multiple other
congenital defects, mostly neurologic, skeletal, hair, and dental anomalies.
Incontinentia Pigmenti Achromians.
First described by the Japanese dermatologist Ito, this
heterogeneous condition belongs to a group of mosaic phenotype
Incidence was approximately 1:1000 new patients
consulting a pediatric neurologic service, or 1:8000-10,000 unselected
patients in a children's hospital. Females outnumber males by 2.5:1. No
Hypomelanosis of Ito is believed to result
from chromosomal mosaicism, which could explain why it is so varied in
phenotype. Genes on 9q33-qter, 15q11-q13, and Xp11 have been implicated in
this syndrome; however, there is no consensus in the literature.
The phenotype may result directly from the loss of
specific pigmentation genes. A migration defect during central nervous system (CNS) maturation
probably accounts for much of the neurologic impairment.
Characterized by mental retardation, behavioral
disturbances, and pigmentary anomalies. Chromosomal mosaicism in epidermal
keratinocytes and confined to the hypopigmented epidermis. The normal
epidermis contains only normal cells.
The disorder is characterized by unilateral or
bilateral macular hypopigmented whorls, streaks, and patches that exist from
birth. The lines of Blaschko are defined by a pattern determined by
different nevoid on the human skin and mucosae. The cause is unknown, and
their distributions do not follow nerves, vessels, or lymphatics. In 1901,
Blaschko pointed out that the lines described by these conditions not only
did not correspond to any known anatomical basis but were remarkably
consistent both from patient to patient and even from one disease to
another. Neurologic impairment (70% of cases) can be severe and present
as mental retardation, seizures, neurologic syndromes, cerebellar signs, and
hearing loss. Abnormalities of the eyes (strabismus, retinal changes, optic
nerve hypoplasia) and the musculoskeletal system (scoliosis, syndactyly)
occur in some patients. Other reported abnormalities include cleft palate,
hair, nail, teeth, limb, hand and/or foot abnormalities, hemihypertrophy,
hypotonia, and face and/or skull anomalies.
Measurement of anticonvulsant levels
and optimization of anticonvulsant therapy must be obtained. Continue
morning dose of anticonvulsants until the day of surgery. Document
neurologic deficits. Evaluate respiratory function in the presence of
scoliosis (effort tolerance, arterial blood gas, lung function tests, chest
radiograph). Assess cardiac function if there is a long-standing history of
In the presence of
significant facial anomalies, evaluate carefully for
difficulties with airway management. Triggers that potentiate
occurrence of seizures are to be avoided. Preoperative
intravenous seizure medication might be indicated during long
surgical procedure or important fluid shift. A regional
technique as the sole anesthetic may be difficult in view of
the patient's mental retardation, behavioral disturbances, and
deformities of the spine. No specific contraindications to
regional anesthesia in patients with preexisting neurologic
syndromes, but careful counseling of patients and detailed
documentation of deficits should be done.