Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease

Abstract

Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn.

Incontinentia Pigmenti: A Series of Six Cases with Isolated Cutaneous Involvement

“…IP is a rare condition reported in approximately 1 in 40,000 neonates, almost exclusively affecting females (F:M = 37:1). [ 3 ] Mutations in the NEMO gene in males are usually associated with intrauterine death. Therefore, in our first case, the previous spontaneous abortions reported by the mother may have been affected male fetuses.…”

“…Skin lesions typically appear along developmental paths of cell migration called Blasckho’s lines and progress through four stages: vesicular, verrucous, hyperpigmentary, and hypopigmentary or atrophic. [ 3 ] The onset and duration of each stage vary among individuals, with considerable overlap between stages, or the absence of certain stages in the sequence. [ 1 3 ] The vesicular stage may begin in-utero, at birth, or within the first 2 weeks and last for up to 18 months.…”

“…[ 3 ] The onset and duration of each stage vary among individuals, with considerable overlap between stages, or the absence of certain stages in the sequence. [ 1 3 ] The vesicular stage may begin in-utero, at birth, or within the first 2 weeks and last for up to 18 months. The hyperpigmented stage is the most frequently encountered stage, seen in 98% of patients, appearing as linear or whorled brownish streaks in bizarre, splashed, or Chinese figure patterns.…”

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“…In addition to cutaneous manifestations, IP is characterized by a variety of ocular abnormalities, neurologic manifestations, and dental or skeletal abnormalities. [7] Patients with IP commonly experience dental anomalies such as hypodontia (missing teeth) and misshapen teeth, leading to potential oral health challenges. Eye complications in these patients are frequent, including retinal detachment and strabismus, which can adversely affect visual function and necessitate ophthalmic interventions.…”

Bloch-Sulzberger syndrome: a rare genodermatosis

“…It is a rare heritable multisystem ectodermal disorder that has dermatologic, dental, ocular and neurologic abnormalities. 1,2…”