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Incontinentia pigmenti syndrome(IP)

MedGen UID:
7049
Concept ID:
C0021171
Congenital Abnormality; 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)
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: IP - Incontinentia pigmenti (367520004); Incontinentia pigmenti of Bloch-Sulzberger (367520004); Bloch-Sulzberger syndrome (367520004); Bloch-Siemens syndrome (367520004); Incontinentia pigmenti syndrome (367520004)
 
Gene (location): IKBKG (Xq28)
OMIM®: 308300

Definition

Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system. Characteristic skin lesions evolve through four stages: I. Blistering (birth to age ~4 months). II. Wart-like rash (for several months). III. Swirling macular hyperpigmentation (age ~6 months into adulthood) . IV. Linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including cognitive delays/intellectual disability and learning disability are occasionally seen. [from GeneReviews]

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 GHR
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 evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs.Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.  https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Scarring
MedGen UID:
3093
Concept ID:
C0008767
Pathologic Function
The formation of fibrous tissue in the place of normal tissue during the process of WOUND HEALING. It includes scar tissue formation occurring in healing internal organs as well as in the skin after surface injuries.
Breast aplasia
MedGen UID:
539633
Concept ID:
C0266009
Congenital Abnormality
Failure to develop and congenital absence of the breast.
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Presence of more than two nipples.
Breast hypoplasia
MedGen UID:
75594
Concept ID:
C0266013
Congenital Abnormality
Underdevelopment of the breast.
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Underdevelopment of the nipple.

Term Hierarchy

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

Recent clinical studies

Diagnosis

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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