Incontinentia pigmenti: a report of ten cases

Vicente-Villa, Asunción; Lamas, J. Villanueva; Pascual, A.; Cuesta, Daniel Lopez; Marfa, Mercedes Pinede; González-Enseñat, Maria Antònia

doi:10.1007/s004310000589

Cited by 14 publications

(7 citation statements)

References 2 publications

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“…Four clinical stages are defined: The most commonly described presenting symptoms in the neonatal period are vesicular rash, exanthema, therapy refractory seizures, paresis [22,40,45], and head circumference increase [41]. More unusual features include persistent pulmonary hypertension (PPHN) [16], alopezia [16,47], or in the later neonatal period, low concentrations of IgG subclasses [33].…”

Section: Discussionmentioning

confidence: 99%

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

et al. 2007

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Section: Discussionmentioning

confidence: 99%

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

et al. 2007

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“…In the past it was presumed that skin lesions usually appear before the end of the 1st week [5] . However, a more recent report suggests an earlier onset [6] .…”

Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti in Combination with Decreased IgG Subclass Concentrations in a Female Newborn

Pauly

Linderkamp²,

Pöschl³

2005

Neonatology

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Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-ĸB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe gastroenteritis. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.

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“…Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation [9]. In fact, multidisciplinary rehabilitation is fundamental in conditions with physical, sensory, perceptive and cognitive deficits caused by prenatal, natal or postnatal causes [10].…”

Section: Introductionmentioning

confidence: 99%

Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects

Lioce¹,

Milani²,

Bistolfi

et al. 2014

Disability and Rehabilitation

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Purpose: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. Method: Patient management and rehabilitation programs from birth to the last follow-up. Results: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. Conclusion: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living.ä Implications for Rehabiliation Incontinentia pigmenti (Bloch-Sulzberger syndrome). Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement. Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation. In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child's physical development and personal needs.

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Incontinentia pigmenti: a report of ten cases

Abstract: A multidisciplinary approach is necessary in the care of patients with incontentia pigmenti (Bloch-Sulzberger syndrome).

Cited by 14 publications

References 2 publications

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti

Incontinentia pigmenti in Combination with Decreased IgG Subclass Concentrations in a Female Newborn

Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects

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