Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Ocular manifestations of incontinentia pigmenti

“…Neonatal eye screening of children with incontinentia pigmenti during the first years of life is mentioned by several authors (Rahi & Hungerford 1990;Goldberg & Custis 1993;Landy & Donnai 1993;Fekrat et al 1998). In spite of the incomplete knowledge of the natural history of retinal disease in IP as well as of the indications and exact timing for treatment, we also advocate such screening.…”

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“…They rarely affect the trunk or the face, but may occur on the scalp. 3 This phase lasts for several weeks, with the lesions becoming lighter in color at 6 months of age in 80% of patients. 4 The next phase affects 98% of patients, with hyperpigmentation that usually disappears by the end of the second decade of life.…”

“…The patients present with peripheral leukocytosis and eosinophilia. 1,3 The condition is often confused with herpes lesions or bacterial infection. 4 In 70% of cases, the vesicular phase is followed by the verrucous phase, generally appearing in the distal part of the limbs as soon as the blisters begin to heal, becoming dry and hyperkeratotic.…”

“…2 The name incontinentia pigmenti (IP) describes a nonspecific histological characteristic in which there is melanin incontinence of the melanocytes in the basal layer of the superficial dermis. 3 Nuclear factor kappa B (NF-KB) regulates the expression of various genes, including cytokines and adhesion molecules. Activation of NF-KB also confers protection against apoptosis induced by tumor necrosis factor (TNF).…”

NF-κB-related genetic diseases

“…13,14 In affected females, the disorder is highly variable in presentation but always associated with skin defects. Typically, IP is characterized by four distinct dermatological stages that begin within 2 weeks after birth with blisters and an inflammatory response, accompanied by a massive eosinophilic granulocytes infiltration into the epidermis (Stage I/Vesicular Stage).…”