Incontinentia Pigmenti Achromians (IP) malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
42NIH Rare Diseases, 43NINDS, 22Genetics Home Reference, 46OMIM, 64Wikipedia, 20GeneReviews, 32MalaCards
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NINDS:43 Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator). Males are more severely affected than females. Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration fades with age. Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex. About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures. They are also likely to have visual problems, including crossed eyes, cataracts, and severe visual loss. Dental problems are also common, including missing or peg-shaped teeth. A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.
MalaCards based summary: Incontinentia Pigmenti Achromians, also known as incontinentia pigmenti, is related to hemimegalencephaly and ectodermal dysplasia, and has symptoms including abnormality of the fontanelles or cranial sutures, strabismus and hypopigmented skin patches. An important gene associated with Incontinentia Pigmenti Achromians is IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma). The drug dihydroxyacetone has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain.
NIH Rare Diseases:42 Hypomelanosis of ito, also called incontinentia pigmenti achromians, is a rare birth defect that causes streaked, whirled, or mottled patches of light-colored skin. these skin changes often develop within the first two years of life. other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus. the underlying cause of the condition is currently unknown. girls tend to be affected more commonly than boys. last updated: 2/24/2012
Genetics Home Reference:22 Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
OMIM:46 Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is... (308300) more...
Wikipedia:64 Incontinentia pigmenti achromians (also known as \"Hypomelanosis of Ito\") is a cutaneous condition... more...
Description from OMIM:46 300337
GeneReviews summary for i-p
Incontinentia Pigmenti Achromians, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases
ICD10: 27 26
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
nevus of ito:
Inheritance: Sporadic; Age of onset: Variable
hypomelanosis of ito:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Age of onset: Childhood; Age of death: Normal
Symptoms by clinical synopsis from OMIM:300337
Clinical features from OMIM:308300,300337
Symptoms:48 (show all 95)
HPO human phenotypes related to Incontinentia Pigmenti Achromians:(show all 150)
MalaCards organs/tissues related to Incontinentia Pigmenti Achromians:32
Skin, Eye, Brain, Cortex, Testes, Bone, Cerebellum, Heart, Small intestine
Articles related to Incontinentia Pigmenti Achromians:(show all 36)
UniProtKB/Swiss-Prot genetic disease variations for Incontinentia Pigmenti Achromians:63
Clinvar genetic disease variations for Incontinentia Pigmenti Achromians:7
Search GEO for disease gene expression data for Incontinentia Pigmenti Achromians.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet