Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).



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Narrow down the case reports



Total: 240 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
51
(4.0%)		 1201810
 Incontinentia pigmenti et achromians.
Mittal R, Handa F, Sharma SC.
Dermatologica. 1975;150(6):355-9.
Nail dystrophy
Child, Preschool Females Homo sapiens Pigmentation Disorders
51
(4.0%)		 1200665
 Incontinentia pigmenti and defective neutrophil chemotaxis.
Dahl MV, Matula G, Leonards R, Tuffanelli DL.
Arch Dermatol. 1975;111(12):1603-5.
Recurrent bacterial infections
IKBKG
Adult Bacterial Infections Chemotaxis Child Complement System Proteins Erythema Multiforme Females Homo sapiens Immunoglobulins Lymphocyte Pigmentation Disorders Staphylococcal Infections
51
(4.0%)		 1157442
 Incontinentia pigmenti with unusual features.
Khan AJ, Mitra N, Evans HE, Elguezabal A.
Clin Pediatr (Phila). 1975;14(9):874-6.
Single umbilical artery
Alkaline Phosphatase Child, Preschool Females Homo sapiens Immunoglobulin M Pigmentation Disorders Syndrome
51
(4.0%)		 1059263
 Incontinentia pigmenti (Bloch-Sulzberger syndrome) associated with acute granulocytic leukemia.
Rivera R, Cangir A, Strong L.
South Med J. 1975;68(11):1391-4.
Leukemia
IKBKG
Females Homo sapiens Infant Leukemia, Myelocytic, Acute Pigmentation Disorders Remission, Spontaneous Syndrome
51
(4.0%)		 708679
 Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report.
Jain RB, Willetts GS.
Br J Ophthalmol. 1978;62(9):622-6.
Retinitis
Child Child, Preschool Females Fluorescein Angiography Homo sapiens Infant Infant, Newborn Pigmentation Disorders Retina Skin Neoplasms Syndrome
51
(4.0%)		 677916
 Incontinentia pigmenti. Evidence for both neutrophil and lymphocyte dysfunction.
Jessen RT, Van Epps DE, Goodwin JS, Bowerman J.
Arch Dermatol. 1978;114(8):1182-6.
Bacteremia
IKBKG
Chemotaxis, Leukocyte Females Homo sapiens Infant Lectin Lymphocyte Pigmentation Disorders Syndrome
51
(4.0%)		 644407
 Incontinentia pigmenti in a Black baby: a case report.
Baker R, Baker S.
S Afr Med J. 1978;53(1):29-30.
Hyperkeratosis
IKBKG
Females Homo sapiens Infant, Newborn Pigmentation Disorders Syndrome
51
(4.0%)		 553451
 Incontinentia pigmenti achromians as part of a neurocutaneous syndrome: a case report.
Hamada K, Tanaka T, Ohdo S, Hayakawa K, Kikuchi I, Katsuya H.
Brain Dev. 1979;1(4):313-7.
Short stature
IKBKG
Child Epilepsy Females Homo sapiens Intellectual Disability Skin Pigmentation Syndrome
51
(4.0%)		 308349
 Infant with abnormal pigmentation, malformations, and immune deficiency.
Ment L, Alper J, Sirota RL, Holmes LB.
Arch Dermatol. 1978;114(7):1043-4.
Patent ductus arteriosus
Cleft Palate Homo sapiens Immunologic Deficiency Syndromes Infant Infant, Newborn Limbic System Male Pigmentation Disorders T-Lymphocyte
51
(4.0%)		 290427
 A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).
Stewart RE, Funderburk S, Setoguchi Y.
Cleft Palate J. 1979;16(4):358-62.
Seizure
Cleft Palate Females Fingers Homo sapiens Infant Pigmentation Disorders Syndrome Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 67

HPO ID Term Frequency
HP:0000668 Hypodontia Very frequent (99-80%)
HP:0000988 Skin rash Very frequent (99-80%)
HP:0001000 Abnormality of skin pigmentation Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0001595 Abnormal hair morphology Very frequent (99-80%)
HP:0001597 Abnormality of the nail Very frequent (99-80%)
HP:0001804 Hypoplastic fingernail Very frequent (99-80%)
HP:0007400 Irregular hyperpigmentation Very frequent (99-80%)
HP:0008066 Abnormal blistering of the skin Very frequent (99-80%)
HP:0010783 Erythema Very frequent (99-80%)
HP:0100585 Telangiectasia of the skin Very frequent (99-80%)
HP:0200043 Verrucae Very frequent (99-80%)
HP:0000202 Oral cleft Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000962 Hyperkeratosis Frequent (79-30%)
HP:0000975 Hyperhidrosis Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0001880 Eosinophilia Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002797 Osteolysis Frequent (79-30%)
HP:0004097 Deviation of finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005815 Supernumerary ribs Frequent (79-30%)
HP:0005922 Abnormal hand morphology Frequent (79-30%)
HP:0006482 Abnormality of dental morphology Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0010978 Abnormality of immune system physiology Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)
HP:0100555 Asymmetric growth Frequent (79-30%)
HP:0200042 Skin ulcer Frequent (79-30%)
HP:0000491 Keratitis Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000532 Abnormal chorioretinal morphology Occasional (29-5%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0000554 Uveitis Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000573 Retinal hemorrhage Occasional (29-5%)
HP:0000592 Blue sclerae Occasional (29-5%)
HP:0000682 Abnormality of dental enamel Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001257 Spasticity Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0001810 Dystrophic toenail Occasional (29-5%)
HP:0001821 Broad nail Occasional (29-5%)
HP:0002092 Pulmonary arterial hypertension Occasional (29-5%)
HP:0002120 Cerebral cortical atrophy Occasional (29-5%)
HP:0002383 Encephalitis Occasional (29-5%)
HP:0002637 Cerebral ischemia Occasional (29-5%)
HP:0003298 Spina bifida occulta Occasional (29-5%)
HP:0004050 Absent hand Occasional (29-5%)
HP:0004374 Hemiplegia/hemiparesis Occasional (29-5%)
HP:0006101 Finger syndactyly Occasional (29-5%)
HP:0007850 Retinal vascular proliferation Occasional (29-5%)
HP:0008388 Abnormal toenail morphology Occasional (29-5%)
HP:0008402 Ridged fingernail Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 88

HPO ID Term # of case reports
HP:0000488 Retinopathy 13
HP:0001250 Seizures 10
HP:0001880 Eosinophilia 6
HP:0002721 Immunodeficiency 6
HP:0000541 Retinal detachment 5
HP:0001298 Encephalopathy 5
HP:0010816 Epidermal nevus 5
HP:0000822 Hypertension 3
HP:0000618 Blindness 2
HP:0000639 Nystagmus 2
HP:0001028 Hemangioma 2
HP:0001269 Hemiparesis 2
HP:0001297 Stroke 2
HP:0001945 Fever 2
HP:0002084 Encephalocele 2
HP:0002140 Ischemic stroke 2
HP:0004322 Short stature 2
HP:0008052 Retinal fold 2
HP:0008404 Nail dystrophy 2
HP:0010783 Erythema 2
HP:0011002 Osteopetrosis 2
HP:0031525 Keratoacanthoma 2
HP:0100556 Hemiatrophy 2
HP:0100699 Scarring 2
HP:0000238 Hydrocephalus 1
HP:0000256 Macrocephaly 1
HP:0000486 Strabismus 1
HP:0000491 Keratitis 1
HP:0000501 Glaucoma 1
HP:0000518 Cataract 1
HP:0000545 Myopia 1
HP:0000555 Leukocoria 1
HP:0000577 Exotropia 1
HP:0000579 Nasolacrimal duct obstruction 1
HP:0000607 Periorbital wrinkles 1
HP:0000609 Optic nerve hypoplasia 1
HP:0000648 Optic atrophy 1
HP:0000668 Hypodontia 1
HP:0000951 Abnormality of the skin 1
HP:0000956 Acanthosis nigricans 1
HP:0000969 Edema 1
HP:0000988 Skin rash 1
HP:0001022 Albinism 1
HP:0001159 Syndactyly 1
HP:0001195 Single umbilical artery 1
HP:0001272 Cerebellar atrophy 1
HP:0001287 Meningitis 1
HP:0001409 Portal hypertension 1
HP:0001528 Hemihypertrophy 1
HP:0001629 Ventricular septal defect 1
HP:0001638 Cardiomyopathy 1
HP:0001909 Leukemia 1
HP:0002007 Frontal bossing 1
HP:0002099 Asthma 1
HP:0002133 Status epilepticus 1
HP:0002718 Recurrent bacterial infections 1
HP:0002719 Recurrent infections 1
HP:0002860 Squamous cell carcinoma 1
HP:0003155 Elevated alkaline phosphatase 1
HP:0003198 Myopathy 1
HP:0003764 Nevus 1
HP:0005593 Macular hypopigmented whorls, streaks, and patches 1
HP:0005602 Progressive vitiligo 1
HP:0006846 Acute encephalopathy 1
HP:0007535 Hypopigmented streaks 1
HP:0007546 Linear hyperpigmentation 1
HP:0007894 Hypopigmentation of the fundus 1
HP:0007902 Vitreous hemorrhage 1
HP:0007957 Corneal opacity 1
HP:0007973 Retinal dysplasia 1
HP:0008392 Subungual hyperkeratosis 1
HP:0008443 Spinal deformities 1
HP:0009915 Corneal asymmetry 1
HP:0010566 Hamartoma 1
HP:0012387 Bronchitis 1
HP:0012733 Macule 1
HP:0030048 Colpocephaly 1
HP:0030906 Suck reflex 1
HP:0031864 Bacteremia 1
HP:0032101 Unusual infection 1
HP:0032282 Contact dermatitis 1
HP:0040238 Impaired neutrophil chemotaxis 1
HP:0040292 Left hemiplegia 1
HP:0100021 Cerebral palsy 1
HP:0100786 Hypersomnia 1
HP:0200034 Papule 1
HP:0200134 Epileptic encephalopathy 1
HP:0500041 Myopic astigmatism 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma 8517