This rare disease is an X-linked dominant inherited disorder. Thus, most males carrying the gene usually die in utero. There are rare males with the disease and presumably these represent new mutations. It affects multiple organs and presents with vesiculobullous lesions with erythema, at birth or soon thereafter. It has a characteristic linear arrangement on the extremities and lateral aspects of the trunk. These bullous and erythematous lesions evolve into verrucous lesions after weeks to months. This may be followed by atrophy or depigmentation with a slate-brown or blue-gray pigmentation. This may not fade until adulthood. Finally, usually in adulthood, there are hypopigmented or depigmented linear macules on the extremities and trunk with a lack of skin appendages.
The diagnosis is usually confirmed by a biopsy but the characteristic collection of organ system changes may strongly suggest the diagnosis.
Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/
Other Diagnostic Testing
Gross Appearance and Clinical Variants Histopathological Features and Variants Special Stains/
Differential Diagnosis Prognosis Treatment Commonly Used Terms Internet Links
EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Bloch-Sulzberger disease INCIDENCE Rare AGE RANGE-MEDIAN Newborn ADULT
Skin biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage (IV): a series of 26 cutaneous biopsies.
Department of Pathology, National Reference Centre for Genodermatoses (Maladies Génétiques à Expression Cutanée MAGEC), Necker-Enfants Malades Hospital, AP-HP, Université Paris-Descartes, Paris, France.
J Cutan Pathol 2009;36:966-971 Abstract quote
BACKGROUND: Hypochromic streaks can be the only cutaneous sign of incontinentia pigmenti (IP) in adulthood (stage IV). Discovery of such lesions in an adult female with no family history of IP is essential for appropriate genetic counselling.
OBJECTIVE: To describe and to validate the histological features of residual skin lesions in adult IP.
METHODS: The analysis and comparison of skin biopsies of 26 women affected with molecularly confirmed IP.
Results: Most biopsies showed slight atrophy and some scattered apoptotic cells in the epidermis, epidermal hypopigmentation and reduced melanocyte number. The dermis appeared thickened and homogeneous and revealed a complete absence of hair follicles (23/26) and sweat glands (22/26). There was no melanin incontinence or inflammatory cells, and the elastic network was normal.
CONCLUSION: These features lead unequivocally to the diagnosis of a stage IV IP skin lesion. Consequently, histology is a major confirmatory criterion for diagnoses of these mild clinical forms of IP. It is therefore a useful tool in genetic counselling and prenatal diagnosis. Moreover, the observations described here may contribute to understanding the physiopathology of the late stages of IP.
SEX (M:F) Most males die in utero
- J Am Acad Dermatol. 2007 Feb;56(2):264-7 Abstract quote
Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP. Six of the patients had neurologic, ophthalmologic, or dental manifestations as well.
Three patients showed evidence by polymerase chain reaction analysis of both the normal NEMO gene and the exon 4-10 deletion in NEMO that occurs in the majority of affected girls with IP, confirming postzygotic mosaicism for the NEMO gene.
- De Novo incontinentia pigmenti in female twins.
Su PH, Chen JY, Yu JS, Su CM, Huang TC, Chen SJ.
Department of Medical Genetics and Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Acta Paediatr Taiwan. 2004 May-Jun;45(3):178-80. Abstract quote
The cutaneous lesions of incontinentia pigmenti classically evolve in stages, beginning with erythematous vesicular rash and bullae, followed by verrucose lesions, with an eventual macular pattern of splashed or whorled hyperpigmentation.
We describe female twins presenting with the classic form of cutaneous expression. Ophthalmologic examination revealed abnormal vascular proliferations in the peripheral retinas in twin B. 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. Two-hundred kilobases proximal to this locus, the gene for NEMO (NF-kappaB essential modulator)/IKKgamma (I kappaB kinase-gamma) has been mapped.
We describe herein female twins with incontinentia pigmenti caused by a de novo mutation of this locus, as demonstrated by diagnostic polymerase chain reaction.
- Surviving male with incontinentia pigmenti: a case report.
Cho SY, Lee CK, Drummond BK.
School Dental Care Service, Department of Health, Hong Kong.
Int J Paediatr Dent. 2004 Jan;14(1):69-72. Abstract quote
Incontinentia pigmenti, or Block-Sulzberger Syndrome, is an X-linked dominant disorder with characteristic skin, hair, eye and tooth abnormalities. It is classically considered a male-lethal disorder with recurrent miscarriages of male foetuses. A few cases of surviving males with incontinentia pigmenti have been reported in the medical literature.
This article reports the medical and dental findings of a boy diagnosed with incontinentia pigmenti.
DISEASE ASSOCIATIONS CHARACTERIZATION INFECTIONS
- Pulmonary tuberculosis and cutaneous mycobacterial infection in a patient with incontinentia pigmenti.
Senturk N, Aydin F, Haciomeroglu P, Yildiz L, Totan M, Canturk T, Turanli AY.
Department of Dermatology, Faculty of Medicine, Ondokuz Mayis University, 55139 Kurupelit/Samsun, Turkey.
Pediatr Dermatol. 2004 Nov-Dec;21(6):660-3. Abstract quote
Lupus vulgaris is reinfection tuberculosis of the skin and may result from direct extension, or hematogenous or lymphatic spread from a tuberculosis focus. Lupus vulgaris following bacille Calmette-Guerin (BCG) vaccination is a rare entity. Incontinentia pigmenti is an X-linked dominant genodermatosis in which vesicular, verrucous, and pigmented lesions are associated with various developmental defects. There is evidence of altered immunologic reactivity in some patients with incontinentia pigmenti.
A 12-year-old girl hospitalized for pulmonary tuberculosis presented with bizarre-shaped brown macules following Blaschko lines on the left deltoid area, compatible with incontinentia pigmenti, which had appeared following BCG vaccination at the age of 7 years. Histopathologic examination found noncaseated granulomas in the dermis. Antituberculous treatment for pulmonary and cutaneous tuberculosis was initiated along with genetic counseling. Immunologic abnormalities have been reported in conjunction with incontinentia pigmenti.
Simultaneous occurrence of pulmonary and cutaneous tuberculosis in our patient might be either coincidental or indicate derangements in the cellular immune system.
PATHOGENESIS CHARACTERIZATION Autoimmune Many of the changes thought to be an autoimmune attack on ectodermal clones expressing an abnormal surface antigen or as premature cell death in defective ectodermal clones Immune defects Defects in neutrophil chemotaxis and lymphocyte function
Leukotriene B4 demonstrated in extracts of the crusted scales
X-linked autosomal dominant Rare father to daughter transmission has been described NF-Kb SIGNAL PATHWAY ALTERATIONS
- Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israel A, Courtois G, D'Urso M, Ursini MV.
Institute of Genetics and Biophysics, Adriano Buzzati Traverso-CR, Naples, Italy.
Hum Mol Genet. 2004 Aug 15;13(16):1763-73. Epub 2004 Jun 30. Abstract quote
Incontinentia Pigmenti (IP) is an X-linked genodermatosis that is lethal for males and present in females with abnormal skin pigmentation and high variable clinical signs, including retinal detachment, anodontia, alopecia, nail dystrophy and nervous system defects. The NF-kappaB essential modulator (NEMO) gene, responsible for IP, encodes the regulatory subunit of the IkappaB kinase (IKK) complex required for nuclear factor kappaB (NF-kappaB) activation.
We analyzed the NEMO gene in 122 IP patients and identified mutations in 83 (36 familiar and 47 sporadic cases). The recurrent NEMO exon 4-10 deletion that is the major cause of the disease was present in 73 females (59.8%). In addition 10 point alterations (8.2% of females) were identified: three frameshift, three nonsense, three missense and one in-frame deletion of a single amino acid.
We measured the effects of these NEMO point-mutations on NF-kappaB signaling in nemo(-/-) deficient murine pre-B cells. A mutation in the N-terminal domain, required for IKK assembly, reduced but did not abolish NF-kappaB activation following lipopolysaccharide stimulation. Mutations that disrupt the C-terminal domain, required for the recruitment of upstream factors, showed lower or no NF-kappaB activation. A phenotype score based on clinical features of our IP patients was applied for summarizing disease severity. The score did not correlate with mutation type or domain affected indicating that other factors influence the severity of IP. Such a factor is likely to be X-inactivation. Indeed, 64% of our patients have extremely skewed X-inactivation pattern (>/=80 : 20).
Overall IP pathogenesis thus depends on a combination of X-inactivation and protein domain that recruit upstream factors and activate NF-kappaB.
- Incontinentia pigmenti: a window to the role of NF-kappaB function.
Department of Dermatology, University of California, San Francisco, San Francisco, CA 94143-0316, USA.
Semin Cutan Med Surg. 2004 Jun;23(2):116-24. Abstract quote
Incontinentia pigmenti is an uncommon X-linked dominant genodermatosis primarily affecting females. Its hallmark is a unique skin eruption that presents in infancy along the lines of Blaschko and evolves through four stages: inflammatory, verrucous, hyperpigmented, and atrophic. Other persistent findings of the disease include alopecia and dental anomalies. In a minority of cases, serious ophthalmologic and neurological alterations may occur.
Mutations in the NF-kappaB essential modulator (NEMO) that lead to an inability to activate the NF-kappaB pathway produce IP. Less deleterious mutations in NF-kappaB essential modulator give rise to hypohidrotic ectodermal dysplasia with immune deficiency in affected males, a related but distinct phenotype.
These recent discoveries provide insight into the crucial role of NF-kappaB function in regulating the developmental, inflammatory, immune, and anti-apoptotic responses of the skin and other organs.
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology.
Berlin AL, Paller AS, Chan LS.
Department of Dermatology, University of Illinois College of Medicine; Department of Dermatology, Northwestern University Medical School; and West Side Division, Veterans Affairs Chicago Health Care System.
J Am Acad Dermatol 2002 Aug;47(2 Pt 1):169-87 Abstract quote
Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females. Cutaneous manifestations are classically subdivided into 4 stages: vesicular, verrucous, hyperpigmented, and atrophic. Various hair and nail abnormalities, dental anomalies, and ophthalmologic and neurologic deficits are associated with the disorder.
The gene for incontinentia pigmenti has been mapped to Xq28. Recently, mutations in the NEMO/IKKgamma gene located at Xq28 have been found to cause expression of the disease. Knockout mice heterozygous for NEMO/IKKgamma gene deficiency develop a clinical phenotype very similar to that of incontinentia pigmenti. NEMO/IKKgamma is an essential component of the newly discovered nuclear factor kappaB (NF-kappaB) signaling pathway. When activated, NF-kappaB controls the expression of multiple genes, including cytokines and chemokines, and protects cells against apoptosis. The mechanism by which NEMO/IKKgamma deficiency causes, via the NF-kappaB pathway, the phenotypical expression of the disease has recently been elucidated. In addition, the newest research findings on eosinophil recruitment through eotaxin release by activated keratinocytes are described in the review.
Finally, anhidrotic ectodermal dysplasia with immunodeficiency, a disorder allelic to incontinentia pigmenti, is discussed together with implications on the current understanding of NF-kappaB function. (J Am Acad Dermatol 2002;47:169-87.) Learning objective: At the completion of this learning activity, participants will have a comprehensive and current understanding of incontinentia pigmenti, including its typical and uncommon clinical and histopathologic characteristics, diagnostic assessment, and current management strategies. Additionally, participants will gain the most current knowledge of the genetic and molecular basis of cutaneous pathomechanism.
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.
Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israel A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D'Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL.
Department of Genetics, Unite de Recherches sur les Handicaps Genetiques de l'Enfant INSERMU-393, Hopital Necker-Enfants Malades, Paris, France.
Nature 2000 May 25;405(6785):466-72 Abstract quote
Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males. In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes and central nervous system.
The prominent skin signs occur in four classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. The reasons for cell death in females and in utero lethality in males are unknown.
The locus for IP has been linked genetically to the factor VIII gene in Xq28 (ref. 3). The gene for NEMO (NF-kappaB essential modulator)/IKKgamma (IkappaB kinase-gamma) has been mapped to a position 200 kilobases proximal to the factor VIII locus. NEMO is required for the activation of the transcription factor NF-kappaB and is therefore central to many immune, inflammatory and apoptotic pathways.
Here we show that most cases of IP are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations. As a consequence, NF-kappaB activation is defective in IP cells.
Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti.
Makris C, Godfrey VL, Krahn-Senftleben G, Takahashi T, Roberts JL, Schwarz T, Feng L, Johnson RS, Karin M.
Department of Pharmacology, University of California, San Diego, La Jolla 92093, USA.
Mol Cell 2000 Jun;5(6):969-79 Abstract quote
IKK gamma/NEMO is the essential regulatory subunit of the I kappa B kinase (IKK), encoded by an X-linked gene in mice and humans. It is required for NF-kappa B activation and resistance to TNF-induced apoptosis.
Female mice heterozygous for Ikk gamma/Nemo deficiency develop a unique dermatopathy characterized by keratinocyte hyperproliferation, skin inflammation, hyperkeratosis, and increased apoptosis. Although Ikk gamma+/- females eventually recover, Ikk gamma- males die in utero. These symptoms and inheritance pattern are very similar to those of incontinentia pigmenti (IP), a human genodermatosis, synthenic with the IKK gamma/NEMO locus. Indeed, biopsies and cells from IP patients exhibit defective IKK gamma/NEMO expression but normal expression of IKK catalytic subunits. This unique self-limiting disease, the first to be genetically linked to the IKK signaling pathway, is dependent on X-chromosome inactivation.
We propose that the IKK gamma/NEMO-deficient cells trigger an inflammatory reaction that eventually leads to their death.
NEMO/IKK gamma-deficient mice model incontinentia pigmenti.
Schmidt-Supprian M, Bloch W, Courtois G, Addicks K, Israel A, Rajewsky K, Pasparakis M.
Institute for Genetics, University of Cologne, Federal Republic of Germany.
Mol Cell 2000 Jun;5(6):981-92 Abstract quote
Disruption of the X-linked gene encoding NF-kappa B essential modulator (NEMO) produces male embryonic lethality, completely blocks NF-kappa B activation by proinflammatory cytokines, and interferes with the generation and/or persistence of lymphocytes.
Heterozygous female mice develop patchy skin lesions with massive granulocyte infiltration and hyperproliferation and increased apoptosis of keratinocytes. Diseased animals present severe growth retardation and early mortality. Surviving mice recover almost completely, presumably through clearing the skin of NEMO-deficient keratinocytes. Male lethality and strikingly similar skin lesions in heterozygous females are hallmarks of the human genetic disorder incontinentia pigmenti (IP).
Together with the recent discovery that mutations in the human NEMO gene cause IP, our results indicate that we have created a mouse model for that disease.
Clinical study of 40 cases of incontinentia pigmenti.
Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C.
Department of Dermatology, Hopital Necker-Enfants-Malades, Paris, France.
Arch Dermatol. 2003 Sep;139(9):1163-70 Abstract quote.
OBJECTIVE: To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).
DESIGN: Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999.
SETTING: The private or institutional practice of participating dermatologists and pediatricians.
MAIN OUTCOME MEASURES: Evaluation of IP clinical diagnosis using the Landy and Donnai criteria.
RESULTS: Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively).
CONCLUSIONS: Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.
- Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.
Hayes IM, Varigos G, Upjohn EJ, Orchard DC, Penny DJ, Savarirayan R.
Genetic Health Services Victoria, MCRI, Parkville, Australia.
Am J Med Genet A. 2005 Jun 15;135(3):302-3. Abstract quote
We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions.
A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.
- Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report.
Godambe S, McNamara P, Rajguru M, Hellmann J.
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
J Perinatol. 2005 Apr;25(4):289-92. Abstract quote
Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions. The other systems that are involved include the central nervous system, eye, hair, teeth, musculoskeletal system and, occasionally, the cardiovascular system.
We report a neonate with a diagnosis of incontinentia pigmenti who presented at birth with pulmonary hypertension. This presentation has not been described in the literature.
CENTRAL NERVOUS SYSTEM Seizures
Hypoplasia of the corpus callosum
Periventricular white matter damage
- Diffuse Cortical Necrosis in a Neonate with Incontinentia Pigmenti and an Encephalitis-Like Presentation.
Wolf NI, Kramer N, Harting I, Seitz A, Ebinger F, Poschl J, Rating D.
Department of Pediatric Neurology, University Children's Hospital Heidelberg, Germany.
AJNR Am J Neuroradiol. 2005 Jun;26(6):1580-1582. Abstract quote
Incontinentia pigmenti is a rare neurocutaneous disorder that may present with neurologic symptoms, in addition to a characteristic vesicular rash within the first days of life.
We describe a neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti. Cerebral MR imaging showed extensive cortical necrosis in the acute period.
Incontinentia pigmenti should be included in the differential diagnosis of encephalopathy and cutaneous involvement in neonates, after a viral infection has been ruled out.
DENTAL Hypodontia (small teeth)
Partial adontia (lack of teeth)
Malformed crowns (cone or peg-shaped)
Anophthalmia (absence of eye)
SKIN Alopecia Wolly hair nevus Nail dystrophy with painful subungual tumors On fingers and toes
Usually onset in late adolescence and may involute
HISTOLOGICAL TYPES CHARACTERIZATION SKIN Vesicular-bullous stage Eosinophilic spongiosis with occasional dyskeratotic cells Verrucous stage Hyperkeratosis, acanthosis, irregular papillomatosis, and numerous dyskeratotic cells Hyperpigmented stage Pronounced melanin pigment incontinence with reduced melanocytes SUBUNGUAL LESIONS Hyperkeratosis and verruciform hyperplasia with dyskeratotic cells through all levels of the epidermis
- Incontinentia pigmenti with painful subungual tumors: a two-generation study.
Montes CM, Maize JC, Guerry-Force ML.
Department of Pathology, Baptist Medical Center Montclair, Birmingham, North Carolina, USA.
J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S45-52. Abstract quote
We report 2 cases of painful subungual dyskeratotic tumors occurring in a mother and daughter with incontinentia pigmenti (IP) as a late manifestation of the disease.
Both patients had a history of similar lesions appearing over a period of years on the digits of both the hands and feet. Biopsy specimens of the current lesions were examined and compared with the previous material available on both patients. The current tumors and the earlier lesions (the latter of which had originally been given diagnoses that included squamous cell carcinoma, keratoacanthoma, and verruca vulgaris) showed similar histopathologic features that were consistent with the late (verrucous) stage of IP.
To our knowledge, this is the first reported case of numerous subungual tumors in IP involving more than 1 generation in the same family; the first report of subungual tumors in IP to include a 16-year follow-up; and the first report of a probable recurrence of subungual tumors in IP at the same site of a previously surgically removed tumor.
DIFFERENTIAL DIAGNOSIS CHARACTERIZATION HERPES SIMPLEX
- All that is vesicular is not herpes: incontinentia pigmenti masquerading as herpes simplex virus in a newborn.
Faloyin M, Levitt J, Bercowitz E, Carrasco D, Tan J.
College of Medicine, University of Illinois, Rockford, Illinois, USA.
Pediatrics. 2004 Aug;114(2):e270-2. Abstract quote
Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities.
The skin lesions associated with the disease progress through 4 stages, the first being erythematous vesicles linearly distributed along the lines of Blaschko.
We report a case of an infant who had incontinentia pigmenti and presented with 2 crops of vesicles and was initially thought to have herpes simplex virus.
PROGNOSIS AND TREATMENT CHARACTERIZATION Prognostic Factors Dependent upon the associated organ system changes RECURRENCE
Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.
Bodak N, Hadj-Rabia S, Hamel-Teillac D, De Prost Y, Bodemer C.
Service de Dermatologie, Hopital Necker-Enfants Malades, 149 rue de Sevres, 75015 Paris, France.
Arch Dermatol 2003 Feb;139(2):201-4 Abstract quote
BACKGROUND: Incontinentia pigmenti (IP) is an X-linked genodermatosis that is manifested by neonatal inflammatory vesicles localized along the lines of Blaschko. These lesions usually clear spontaneously within a few months, leaving hyperpigmentation. Ophthalmologic and neurologic symptoms can be associated with IP. Late recurrences of the first-stage inflammatory lesions after the initial rash are uncommon and have been reported infrequently. The mechanism involved in this phenomenon is unclear. However, the recent identification of NEMO/IKKgamma as the gene responsible for IP sheds new light on its pathophysiologic origins.
OBSERVATIONS: We report 5 cases of children who experienced episodes of late reactivation of IP. In all cases, the recurrences occurred on the previously hyperpigmented streaks several months or years after resolution of the initial eruptions. In most cases, the recurrences were preceded by an infectious episode.
CONCLUSIONS: These IP recurrences suggest that mutated cells can persist a long time in the epidermis. We theorize that infections trigger the reactivations. The NEMO/IKKgamma gene encodes a protein essential in nuclear factor kappaB activation, which is required for resistance to tumor necrosis factor alpha-induced apoptosis. We discuss the role of a proinflammatory cytokine such as tumor necrosis factor alpha as a triggering factor for the reactivation.
- The importance of screening for sight-threatening retinopathy in incontinentia pigmenti.
Wong GA, Willoughby CE, Parslew R, Kaye SB.
Department of Dermatology, Royal Liverpool Children's Hospital, Liverpool, England.
Pediatr Dermatol. 2004 May-Jun;21(3):242-5. Abstract quote
Incontinentia pigmenti (IP) is an X-linked dominant disorder of ectodermal structures affecting the skin, hair, teeth, eyes, and central nervous system. The four classic cutaneous stages of the disorder are well known to pediatric dermatologists. However, ocular and neurologic sequelae represent the major morbidity in IP.
The two patients reported here highlight some of the potential ocular manifestations of IP and emphasize the importance of early ophthalmologic assessment in this condition.
- Orthodontic and orthopedic treatment of a patient with incontinentia pigmenti.
Doruk C, Bicakci AA, Babacan H.
Faculty of Dentistry, University of Cumhuriyet, Sivas, Turkey.
Angle Orthod. 2003 Dec;73(6):763-8. Abstract quote
Incontinentia pigmenti is an uncommon, inherited disorder with predominantly ectodermal manifestations that is associated with skin (100%)), dental (90%), skeletal (40%), central nervous (40%), and ocular (35%) deformities. It is an X-linked dominant disease, usually lethal in males and occurring in female infants. The dental effects include delayed eruption, partial anodontia, microdontia, and cone or peg-shaped teeth.
The dental, clinical, and radiological findings in a 16-year-old female are presented here. The patient had peg-shaped teeth and a unilateral maxillary transverse discrepancy associated with oligodontia in the maxillary and mandibular arches.
Orthodontic treatment included rapid maxillary expansion and fixed orthodontic therapy for prosthetic purposes and elimination of the functional midline shift.
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DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
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