The Skin Is Not the Predominant Problem in Incontinentia Pigmenti

A 6-Day-Old Male Infant With Linear Band of Skin-Colored Papules

“…4 Retinal involvement can be progressive and can result in retinal detachment and blindness. 6 Central nervous system manifestations occur in approximately onethird of affected patients and include seizures, mental retardation, and spastic paralysis. 5 Although incontinentia pigmenti is classified as an X-linked dominant syndrome that is lethal for male patients, a small number of surviving male patients have been reported.…”

A Case of a Surviving Male Infant with Incontinentia Pigmenti

“…Therefore, it is central to many immune, inflammatory responses, and apoptotic pathways. Disruption of NEMO gene leads to diminished NF-κB activity which increases the susceptibility of cells to apoptosis 11,12 . It is quite rare for male patients with IP to survive.…”

“…In addition, females who carry loss-of-function mutations would be expected to often have severe clinical signs, including neurologic: spastic paralysis, convulsion, and mental retardation; ophthalmologic: strabismus, cataracts, microphthalmos, cataract and optic atrophy; and odontologic defects: partial anodontia, delayed impaction, and crown malformations, presenting at birth or during the first few weeks of life 10,11,13,14 . The severity of IP is related to ocular and neurological impairment, in particular, blindness and psychomotor retardation, not skin lesions 1,17 .…”

Pigmentary disorders of the eyes and skin

“…The first stage presents in the neonatal period with vesiculobullous skin lesions that follow the lines of Blaschko. 79 The second stage is marked by hyperkeratotic and verrucous lesions appearing between 2 and 6 months of age. In the third stage the lesions evolve into hyperpigmented patches, usually, by the end of infancy.…”