PubMed journal article [INCONTINENTIA ALVI were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad. PubMed journal article [Sphincteroplasty in incontinentia alvi were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad. Author: KUMMER A, Journal: Nederlands tijdschrift voor geneeskunde[/11].

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Incontinentia pigmenti IP is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.

The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails.

Associated problems can include delayed algi, intellectual disability, seizures and other neurological problems.


Most males with the disease do not survive to childbirth. There is no specific treatment; individual conditions must be managed by specialists. Alopeciahypodontiaabnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. 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 extremitiesis slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines.

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The discoloration sometimes fades with age. Neurological problems can include: They are also likely to have visual problems, which can include: Dental problems are common, and include missing or peg-shaped teeth – patients with IP often keep milk teeth into adult life. IP is inherited in an X-linked dominant manner. Parents may either be clinically affected or have germline mosaicism. Genetic counselingprenatal testing, and preimplantation genetic diagnosis is available.

In females, the cells expressing the mutated IKBKG gene due to lyonization selectively die around the time of birth so the X-inactivation is extremely skewed. The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Such testing is available clinically. In addition, females with IP have skewed X- chromosome inactivation; testing for this can be used to support the diagnosis.


Many people in the past were misdiagnosed with a second type of IP, formerly known as IP1. This has now been given its incontinentiq name – ‘ Hypomelanosis of Ito’ incontinentia pigmenti achromians. This has a slightly different presentation: It inxontinentia not inherited and does not involve skin stages 1 or 2.

Its chromosomal locus is at Xp11, rather than Xq There does not yet exist a specific treatment for IP. Treatment can only address the individual symptoms. This disorder was first reported by Swiss dermatologist Bruno Bloch in and American dermatologist Marion Sulzberger in Congenital malformations and deformations of skin appendagesTemplate: Pigmentation disordersTemplate: DNA replication and repair-deficiency disorder.

From Wikipedia, the free encyclopedia. Not to be confused with Incontinentia pigmenti achromians. Retrieved 26 December Schweizerische medizinische Wochenschrift in German. Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis—sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix.

Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome. Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel—Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Meleda disease Keratosis pilaris ATP2A2 Darier’s disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis qlvi decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris.

Capillary hemangioma Port-wine stain Nevus flammeus nuchae.

Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal—Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark.

Phakomatosis Q85 Sturge—Weber syndrome Von Hippel—Lindau disease. Type I Type II. Abdallat—Davis—Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz—Jeghers syndrome Encephalocraniocutaneous lipomatosis. Haemophilia A Haemophilia B X-linked sideroblastic anemia. Ornithine transcarbamylase alvvi Oculocerebrorenal syndrome Dyslipidemia: Hunter incohtinentia Purine—pyrimidine metabolism: Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy.


Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Deficiencies of intracellular signaling peptides and proteins. Neurofibromatosis type I Watson syndrome Tuberous sclerosis.

See also intracellular signaling peptides and proteins. Alezzandrini syndrome Vogt—Koyanagi—Harada syndrome. Piebaldism Waardenburg incontknentia Tietz syndrome.

Oculocutaneous albinism Ocular albinism. Vasospastic macule Inconyinentia ring Nevus anemicus. Nevus depigmentosus Postinflammatory hypopigmentation Pityriasis alba Vagabond’s leukomelanoderma Yemenite deaf-blind hypopigmentation syndrome Wende—Bauckus syndrome. Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli—Franceschetti—Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Alvii disease Revesz syndrome.

Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis. Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister—Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis.

Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration. Carotenosis Tattoo Tar melanosis. Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria. Skin color Skin incontinetia Tanning Sunless. Retrieved from ” https: Eosinophilic cutaneous conditions X-linked dominant disorders Enzyme defects Syndromes affecting the nervous system Rare diseases. Wikipedia articles needing page number citations from January CS1 German-language sources de Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from August Views Read Edit View history.

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This page was last edited on 27 Septemberat By using this site, you agree to the Terms of Use and Privacy Policy. X-linked dominant inheritance works differently depending upon whether the mother left image or father right image is the carrier of a gene that causes a disease or disorder. D ICD – Albinism Oculocutaneous incontihentia Ocular albinism.