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Incontinentia pigmenti syndrome(IP)

MedGen UID:
7049
Concept ID:
C0021171
Disease or Syndrome
Synonyms: BLOCH-SULZBERGER SYNDROME; Incontinentia Pigmenti; Incontinentia pigmenti type 2 (formerly); INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE; INCONTINENTIA PIGMENTI, TYPE II; IP; IP2 (formerly)
SNOMED CT: IP - Incontinentia pigmenti (367520004); Incontinentia pigmenti of Bloch-Sulzberger (367520004); Bloch-Sulzberger syndrome (367520004); Bloch-Siemens syndrome (367520004); Incontinentia pigmenti syndrome (367520004)
Modes of inheritance:
 
IKBKG (Xq28)
 
Monarch Initiative: MONDO:0010631
OMIM®: 308300
Orphanet: ORPHA464
Authors:

Additional descriptions

From OMIM
Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000). 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 4 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. Also see hypomelanosis of Ito (300337), which was formerly designated incontinentia pigmenti type I (IP1).  http://www.omim.org/entry/308300
From MedlinePlus Genetics
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.

Incontinentia pigmenti is characterized by skin abnormalities that typically evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy. Though this blistering heals spontaneously, it can recur during illnesses with high fever. This blistering stage is followed by the development of wart-like (verrucous) lesions that also heal spontaneously. The blisters and wart-like lesions primarily occur on the arms and legs. 

In infancy and early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches, which can occur anywhere on the body, fade with time. Adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. These markings follow the paths along which cells migrate as the skin develops before birth (called the lines of Blaschko).

Individuals with incontinentia pigmenti are at risk of stroke and vision loss, especially within the first year of life. These risks are due to abnormalities in blood vessels in the brain and  in the light-sensitive tissue that lines the back of the eye (retina). Affected individuals at risk often have developmental delays, intellectual disabilities, seizures, or other neurological problems. In the absence of stroke or another brain abnormality, most people with incontinentia pigmenti have normal intelligence. 

Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) on the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), and lined or pitted fingernails and toenails. The features of incontinentia pigmenti may be mild or gone by the time affected individuals reach adulthood. 

  https://medlineplus.gov/genetics/condition/incontinentia-pigmenti

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncontinentia pigmenti syndrome

Professional guidelines

PubMed

Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV
Appl Neuropsychol Child 2017 Oct-Dec;6(4):327-334. Epub 2016 Jun 7 doi: 10.1080/21622965.2016.1188388. PMID: 27267212

Recent clinical studies

Etiology

Santa Maria FD, Barros SE, Chiqueto K, Mariath LM, Schüler-Faccini L, Kiszewski AE
Am J Orthod Dentofacial Orthop 2021 Jul;160(1):66-76. Epub 2021 Apr 24 doi: 10.1016/j.ajodo.2020.03.033. PMID: 33906773
Pizzamiglio MR, Piccardi L, Bianchini F, Canzano L, Palermo L, Fusco F, D'Antuono G, Gelmini C, Garavelli L, Ursini MV
Appl Neuropsychol Child 2017 Oct-Dec;6(4):327-334. Epub 2016 Jun 7 doi: 10.1080/21622965.2016.1188388. PMID: 27267212

Diagnosis

Santa Maria FD, Barros SE, Chiqueto K, Mariath LM, Schüler-Faccini L, Kiszewski AE
Am J Orthod Dentofacial Orthop 2021 Jul;160(1):66-76. Epub 2021 Apr 24 doi: 10.1016/j.ajodo.2020.03.033. PMID: 33906773
Mégarbané A, Vabres P, Slaba S, Smahi A, Loeys B, Okais N
Am J Med Genet 2002 Sep 15;112(1):95-8. doi: 10.1002/ajmg.10666. PMID: 12239729

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