Incontinentia Pigmenti (Bloch Sulzberger Syndrome)

A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.

Also Known As:

Networked: 166 relevant articles (3 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pulmonary Arterial Hypertension
2.	Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
5.	Retinopathy of Prematurity (Retrolental Fibroplasia)

Experts

1.	Fusco, Francesca: 6 articles (01/2022 - 05/2008)
2.	Pescatore, Alessandra: 6 articles (01/2022 - 05/2008)
3.	Ursini, Matilde Valeria: 6 articles (01/2022 - 05/2008)
4.	Bodemer, Christine: 6 articles (01/2021 - 10/2002)
5.	Smahi, Asma: 6 articles (12/2017 - 10/2002)
6.	Munnich, Arnold: 5 articles (12/2017 - 10/2002)
7.	Courtois, G: 5 articles (05/2006 - 05/2000)
8.	Smahi, A: 5 articles (05/2006 - 05/2000)
9.	Aradhya, S: 5 articles (10/2001 - 05/2000)
10.	Nelson, D L: 5 articles (10/2001 - 05/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Incontinentia Pigmenti:

1.	Adrenal Cortex Hormones (Corticosteroids)IBA 07/01/1963 - "[EARLY STAGE OF INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER) AND CORTICOSTEROID TREATMENT]." 03/01/2016 - "We report a neonate with acute neurological symptoms of incontinentia pigmenti who was effectively treated with corticosteroid therapy. " 10/01/2019 - "Corticosteroid Therapy in Neonatal Incontinentia Pigmenti With Asymptomatic Cerebral Lesions." 03/01/2016 - "We suggest that corticosteroid therapy may be an effective treatment during the acute phase of central nervous system dysfunction due to incontinentia pigmenti. " 03/01/2016 - "Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti."
2.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 04/11/2019 - "Conclusions: The efficacy of anti-vascular endothelial growth factor in the treatment of retinopathy of incontinentia pigmenti was prelininarily confimed.However" 04/11/2019 - "Objective: To investigate the treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor. " 04/11/2019 - "[Treatment of retinopathy of incontinentia pigmenti by anti-vascular endothelial growth factor]." 03/01/2009 - "This paper will examine the current evidence for use of anti-VEGF therapy in a number of pediatric vitreoretinal disorders and describe a case of anti-VEGF therapy in retinopathy of incontinentia pigmenti." 03/01/2009 - "While angiogenesis inhibitors are already widely used to treat retinal disease in adults, only limited reports are currently available for the use of anti-VEGF in pediatric vitreoretinal diseases such as retinopathy of prematurity, Coats' disease, familial exudative vitreoretinopathy and retinopathy of incontinentia pigmenti. "
3.	Tadalafil (Cialis)FDA Link 03/01/2020 - "We describe a female infant with incontinentia pigmenti complicated by severe pulmonary arterial hypertension that was markedly improved by tadalafil administration. " 03/01/2020 - "Our experience indicates that tadalafil may be beneficial in treating pulmonary arterial hypertension associated with incontinentia pigmenti." 03/01/2020 - "A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension."
4.	Factor VIII (Coagulation Factor VIII)IBA 05/01/2004 - "Several studies have confirmed linkage of familial incontinentia pigmenti to chromosome Xq28, with the factor VIII gene in Xq28 identified as the locus for incontinentia pigmenti. " 10/01/1996 - "The hereditary form of incontinentia pigmenti (IP2) is a rare disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm and has been linked to Xq28 distal to the factor VIII gene (F8C). " 06/01/1993 - "Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia."
5.	DNA ProbesIBA 07/01/1988 - "The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization." 01/01/1989 - "X-specific DNA probes were used to characterize the r(X) of a 45,X/46,X,r(X) female patient with Incontinentia pigmenti. "
6.	TrypsinIBA 05/01/2008 - "Histopathologic and trypsin digestion studies of the retina in incontinentia pigmenti."
7.	Retinaldehyde (Retinal)IBA 09/01/2023 - "This case depicted concurrent, localized abnormalities in retinal thickness and microvasculature in an eye with incontinentia pigmenti." 01/01/2021 - "This case series describes the nature and frequency of retinal manifestations in patients with incontinentia pigmenti (IP). " 01/01/2021 - "To describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography (SD-OCT) and Optical Coherence Tomography Angiography (OCT-A) and an electronegative dark-adapted (DA) 3.0 electroretinogram (ERG), suggestive of inner retinal dysfunction. " 01/01/2021 - "Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction." 01/01/2019 - "Retinal imaging in incontinentia pigmenti."
8.	NF-kappa B (NF-kB)IBA 11/01/2018 - "We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti. " 02/01/2010 - "Incontinentia pigmenti is an X-linked dominant or sporadic multisystemic disorder with involvement of skin, eyes and central nervous system which results from mutations in the gene for NF-kappaB essential modulator (NEMO). " 12/01/2009 - "Incontinentia pigmenti (IP) is a rare genodermatosis caused by a mutation of nuclear factor kappa B essential modulator gene. " 09/01/2009 - "We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-kappa B essential modulator gene at Xq28. " 02/01/2008 - "The same gene is mutated in incontinentia pigmenti (IP), and mutations that do not completely abolish NF-kappaB activity allow survival of male fetuses. "
9.	Fluorescein (Funduscein)FDA LinkGeneric 09/01/2015 - "This report presents evidence from spectral-domain optical coherence tomography and fluorescein angiography of inner foveal structural abnormalities associated with vision loss in incontinentia pigmenti (IP). " 06/01/2013 - "We report a case of an infant with incontinentia pigmenti in whom we were able to acquire angiographic information in an office setting by using an ultra-widefield non-contact system with oral fluorescein. " 01/01/2013 - "Use of fluorescein angiography in incontinentia pigmenti: a case report." 10/01/2009 - "The ophthalmic examination and results of fluorescein angiography using Retcam II are described in a patient with Incontinentia Pigmenti (IP). " 10/01/2009 - "[Fluorescein angiography with Retcam in incontinentia pigmenti: a case report]."
10.	I-kappa B KinaseIBA 10/15/2001 - "The X-linked dominant and male-lethal disorder incontinentia pigmenti (IP) is caused by mutations in a gene called NEMO (IKK-gamma). " 09/15/2001 - "A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations." 12/01/2000 - "Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). " 06/01/2000 - "NEMO/IKK gamma-deficient mice model incontinentia pigmenti." 06/01/2000 - "These symptoms and inheritance pattern are very similar to those of incontinentia pigmenti (IP), a human genodermatosis, synthenic with the IKK gamma/NEMO locus. "

Therapies and Procedures

1.	Therapeutics 01/01/2015 - "There are no specific therapies available for the manifestations of incontinentia pigmenti. " 09/01/2008 - "Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis." 11/01/1987 - "It is reported on four girls aged 8 to 20 with Incontinentia pigmenti (Ip) The ectodermal dysplasia was associated with oligophrenia, therapy resistant epilepsy with severe psychorganic syndromes and dementia, Lennox syndrome, lability of emotion with severe disorders of social adaptations, spasticity, hypo- and areflexia, hemiathetosis, choreiform unrest, pathological EEG findings, including spike-potentials; relations to cleidocranial dysostosis, dysraphia, Poland's, Greig's and Chotzen's syndrome were found. " 03/01/2016 - "We report a neonate with acute neurological symptoms of incontinentia pigmenti who was effectively treated with corticosteroid therapy. " 10/01/2019 - "Corticosteroid Therapy in Neonatal Incontinentia Pigmenti With Asymptomatic Cerebral Lesions."
2.	Light Coagulation 08/01/2001 - "Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti." 05/01/2011 - "Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation." 04/01/2010 - "Regression of retinal neovascularization after laser photocoagulation in incontinentia pigmenti." 08/01/2001 - "Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. " 11/01/2020 - "Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti."
3.	Lasers (Laser) 08/01/2001 - "Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti." 05/01/2011 - "Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation." 04/01/2010 - "Regression of retinal neovascularization after laser photocoagulation in incontinentia pigmenti." 08/01/2001 - "Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. " 11/01/2020 - "Early laser photocoagulation for extensive retinal avascularity in infants with incontinentia pigmenti."
4.	Intravitreal Injections 10/15/2019 - "A six-week-old female infant with Incontinentia Pigmenti developed a foudroyant necrotizing enterocolitis shortly after intravitreal injection of bevazicumab due to a retinopathy with impending tractional detachment of the left eye. " 01/01/2021 - "Case Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti." 01/01/2018 - "Intravitreal injection of ranibizumab in severe retinopathy of incontinentia pigmenti."
5.	Cryotherapy (Therapy, Cold) 06/01/1991 - "Cryotherapy for retinopathy of incontinentia pigmenti." 06/01/1990 - "Early diagnosis of the retinopathy of incontinentia pigmenti: successful treatment by cryotherapy." 08/01/2001 - "Therapeutic intervention with laser photocoagulation and cryotherapy for the proliferative vitreoretinopathy of incontinentia pigmenti has met with variable success. " 06/01/1991 - "We propose that cryotherapy may be a good treatment method for progressing retinal vascular lesions of incontinentia pigmenti." 06/01/1990 - "Prospective retinal examination of newborn female siblings of children with incontinentia pigmenti is advised, with early cryotherapy recommended if progressive neovascularisation is detected."