Incontinentia pigmenti syndrome
- Synonyms
- Bloch-Sulzberger syndrome; INCONTINENTIA PIGMENTI, TYPE II; IP2 (formerly); Incontinentia Pigmenti; Incontinentia pigmenti type 2 (formerly); Incontinentia pigmenti, familial male-lethal type
- Modes of inheritance
- X-linked dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Angela E Scheuerle
- Matilde Valeria Ursini
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Conical tooth
Conical tooth
- MedGen UID: 82730
- Concept ID: C0266037
- Finding: Congenital Abnormality
Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Oligodontia
Oligodontia
- MedGen UID: 904670
- Concept ID: C4082304
- Finding: Congenital Abnormality
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Conical tooth
- Abnormality of the breast
- Breast aplasia
Breast aplasia
- MedGen UID: 539633
- Concept ID: C0266009
- Finding: Congenital Abnormality
Abnormality of the breast
- Breast hypoplasia
Breast hypoplasia
- MedGen UID: 75594
- Concept ID: C0266013
- Finding: Congenital Abnormality
Abnormality of the breast
- Hypoplastic nipples
Hypoplastic nipples
- MedGen UID: 98156
- Concept ID: C0432355
- Finding: Congenital Abnormality
Abnormality of the breast
- Supernumerary nipple
Supernumerary nipple
- MedGen UID: 120564
- Concept ID: C0266011
- Finding: Congenital Abnormality
Abnormality of the breast
- Breast aplasia
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypoplasia of the fovea
Hypoplasia of the fovea
- MedGen UID: 393047
- Concept ID: C2673946
- Finding: Finding
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal detachment
Retinal detachment
- MedGen UID: 19759
- Concept ID: C0035305
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal hemorrhage
Retinal hemorrhage
- MedGen UID: 11210
- Concept ID: C0035317
- Finding: Pathologic Function
Abnormality of the eye
- Retinal vascular proliferation
Retinal vascular proliferation
- MedGen UID: 1640625
- Concept ID: C4551695
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the immune system
- Eosinophilia
Eosinophilia
- MedGen UID: 41824
- Concept ID: C0014457
- Finding: Disease or Syndrome
Abnormality of the immune system
- Keratitis
Keratitis
- MedGen UID: 44013
- Concept ID: C0022568
- Finding: Disease or Syndrome
Abnormality of the immune system
- Leukocytosis
Leukocytosis
- MedGen UID: 9736
- Concept ID: C0023518
- Finding: Disease or Syndrome
Abnormality of the immune system
- Maculopapular exanthema
Maculopapular exanthema
- MedGen UID: 98072
- Concept ID: C0423791
- Finding: Finding
Abnormality of the immune system
- Uveitis
Uveitis
- MedGen UID: 52961
- Concept ID: C0042164
- Finding: Disease or Syndrome
Abnormality of the immune system
- Eosinophilia
- Abnormality of the integument
- Abnormal blistering of the skin
Abnormal blistering of the skin
- MedGen UID: 412159
- Concept ID: C2132198
- Finding: Finding
Abnormality of the integument
- Abnormality of skin pigmentation
Abnormality of skin pigmentation
- MedGen UID: 224697
- Concept ID: C1260926
- Finding: Finding
Abnormality of the integument
- Alopecia
Alopecia
- MedGen UID: 7982
- Concept ID: C0002170
- Finding: Finding
Abnormality of the integument
- Atrophic, patchy alopecia
Atrophic, patchy alopecia
- MedGen UID: 870854
- Concept ID: C4025314
- Finding: Disease or Syndrome
Abnormality of the integument
- Coarse hair
Coarse hair
- MedGen UID: 124454
- Concept ID: C0277959
- Finding: Finding
Abnormality of the integument
- Erythema
Erythema
- MedGen UID: 11999
- Concept ID: C0041834
- Finding: Disease or Syndrome
Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dystrophy
Nail dystrophy
- MedGen UID: 66368
- Concept ID: C0221260
- Finding: Disease or Syndrome
Abnormality of the integument
- Nail pits
Nail pits
- MedGen UID: 57463
- Concept ID: C0150993
- Finding: Finding
Abnormality of the integument
- Onychogryposis
Onychogryposis
- MedGen UID: 82671
- Concept ID: C0263537
- Finding: Disease or Syndrome
Abnormality of the integument
- Pallor
Pallor
- MedGen UID: 10547
- Concept ID: C0030232
- Finding: Finding
Abnormality of the integument
- Ridged nail
Ridged nail
- MedGen UID: 140853
- Concept ID: C0423820
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Abnormal blistering of the skin
- Abnormality of the musculoskeletal system
- Hemivertebrae
Hemivertebrae
- MedGen UID: 82720
- Concept ID: C0265677
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Scarring
Scarring
- MedGen UID: 3093
- Concept ID: C0008767
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Supernumerary ribs
Supernumerary ribs
- MedGen UID: 83380
- Concept ID: C0345397
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hemivertebrae
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.