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: 136 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Incontinentia Pigmenti (Bloch Sulzberger Syndrome)
2.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
3.	Retinopathy of Prematurity (Retrolental Fibroplasia)
4.	Lichen Planus (Lichen Ruber Planus)
5.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)

Experts

1.	Courtois, G: 5 articles (05/2006 - 05/2000)
2.	Smahi, A: 5 articles (05/2006 - 05/2000)
3.	Kenwrick, S: 5 articles (01/2002 - 09/2000)
4.	Nelson, D L: 5 articles (10/2001 - 05/2000)
5.	Aradhya, S: 5 articles (10/2001 - 05/2000)
6.	Munnich, Arnold: 4 articles (02/2014 - 10/2002)
7.	Smahi, Asma: 4 articles (02/2014 - 10/2002)
8.	Munnich, A: 4 articles (10/2001 - 05/2000)
9.	Bardaro, T: 4 articles (10/2001 - 05/2000)
10.	Esposito, T: 4 articles (10/2001 - 05/2000)

Drugs and Biologics

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

1.	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."
2.	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. "
3.	TrypsinIBA 05/01/2008 - "Histopathologic and trypsin digestion studies of the retina in incontinentia pigmenti."
4.	Retinaldehyde (Retinal)IBA 02/01/2009 - "Retinal sequelae of incontinentia pigmenti." 03/01/2006 - "Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti." 08/01/2004 - "Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti." 08/01/2004 - "An extreme case of retinal avascularity in a female neonate with incontinentia pigmenti." 12/01/2003 - "A spectrum of retinal features has been recognised in association with incontinentia pigmenti. "
5.	NF-kappa B (NF-kB)IBA 02/01/2014 - "Incontinentia pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of nuclear factor kappaB (NF-kB) signaling. " 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. "
6.	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]."
7.	Hypohidrotic Ectodermal DysplasiaIBA 11/01/2014 - "Mutations in the NEMO gene have been reported in association with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID), OL-HED-ID, and incontinentia pigmenti. " 09/01/2002 - "IKKgamma is encoded by an X-linked gene, deficiencies in which may result in two human genetic disorders, incontinentia pigmenti (IP) and hypohidrotic ectodermal dysplasia with severe immunodeficiency. " 09/01/2009 - "The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency). " 03/01/2001 - "Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection." 01/01/1995 - "This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. "
8.	Norrie diseaseIBA 05/01/2015 - "This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. " 07/01/2000 - "Evaluation of the norrie disease gene in a family with incontinentia pigmenti." 06/01/1988 - "Incontinentia pigmenti: the development of pseudoglioma." 05/01/1983 - "[Incontinentia pigmenti (Bloch-Sulzberger) and pseudoglioma]." 01/01/1974 - "[Pseudoglioma in incontinentia pigmenti (author's transl)]."
9.	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. "
10.	Melanins (Melanin)IBA 11/01/1999 - "Incontinentia pigmenti is a rare syndrome of genetic origin that affects the melanin production of the melanocytes in the epidermis or superficial dermis. " 01/01/1988 - "All of these features suggest that neural structures may be abnormal in incontinentia pigmenti and play a role in transfer of melanin from epidermis to dermis." 01/01/1984 - "To facilitate the mobilization of dermal melanin from the skin, we studied the role of macrophages in the elimination of dermal melanin in incontinentia pigmenti. " 03/01/2015 - "Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. "

Therapies and Procedures

1.	Light Coagulation 05/01/2011 - "Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation." 08/01/2001 - "Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti." 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. " 03/01/2010 - "Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti."
2.	Lasers (Laser) 05/01/2011 - "Predominant exudative retinopathy in incontinentia pigmenti and clinical course after peripheral laser photocoagulation." 08/01/2001 - "Laser photocoagulation in preproliferative retinopathy of incontinentia pigmenti." 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. " 03/01/2010 - "Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti."
3.	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."
4.	General Anesthesia 09/01/1998 - "Twelve baby girls with incontinentia pigmenti were evaluated under general anesthesia by fluorescein angiography of the macula. " 01/01/1998 - "Twelve baby girls with incontinentia pigmenti were examined under general anesthesia by fluorescein angiography of the macula. "
5.	Anesthesia 01/01/2013 - "Because vision loss can cause significant morbidity in incontinentia pigmenti, the use of fluorescein angiography as an adjunctive tool with exams under anesthesia may provide invaluable information in the detection of early vascular changes in this disease." 11/01/1993 - "In infants with incontinentia pigmenti, retinal vascular anomalies are best detected by examination under anesthesia using fluorescein angiography."