eMedicine Specialties > Neurology > Pediatric Neurology

Incontinentia Pigmenti: Differential Diagnoses & Workup

Author: Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Contributor Information and Disclosures

Updated: Apr 6, 2007

Differential Diagnoses

Other Problems to Be Considered

Differential for multiorgan involvement includes the following:

Dyskeratosis congenita
Focal dermal hypoplasia of Goltz
Hypomelanosis of Ito (incontinentia pigmenti achromians)
MIDAS syndrome
Naegeli syndrome
X-linked chondrodysplasia punctata

Differential for stage 1 lesions includes the following:
Arthropod reaction
Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis)
Bullous dermatosis
Bullous impetigo
Bullous mastocytosis
Bullous pemphigoid
Drug reaction
Epidermolysis bullosa, especially Dowling Meara type
Eosinophilic cellulitis (Wells syndrome)
Eosinophilic pustular folliculitis (Ofuji disease)
Erythema toxicum neonatorum
Hypereosinophilic syndrome
Herpes simplex and varicella zoster
Milker nodule
Pemphigus
Polycythemia rubra vera
Porokeratosis of Mibelli (benzyl hydrochlorothiazide induced)
Scabies
Subcorneal pustular dermatosis (Sneddon Wilkinson disease)

Differential for stage 2 lesions includes the following:
Linear epidermal nevus
Lichen striatus

Differential for stage 3 lesions includes the following:
Linear and whorled nevoid hypermelanosis
Dermatopathia pigmentosa reticularis

Workup

Laboratory Studies

  • Complete blood count (CBC) frequently shows eosinophilia in about one third of males.
  • Genetic testing for NEMO mutations - Southern blot or direct sequencing of exons (see GeneTests)

Imaging Studies

  • CT scan or MRI of the brain should be performed if the neurologic examination or the child's development are abnormal or if vascular retinal findings are present. CNS lesions also correlate with scalp lesions. CNS findings are usually present at birth or within the first few months of life. CT and MRI findings may include the following:
    • Atrophy
    • Hypoplasia and partial agenesis of corpus callosum
    • Gray matter dysplasia
    • Periventricular white matter disease (A transient white matter lesion on MRI has been reported.)
    • Strokes or focal encephalomalacia; lesions extend radially and can involve structures from the ependyma to the cortex. The lesions do not correspond to usual vascular territories.
    • Diffuse cortical necrosis
  • Fluorescein angiography is helpful in defining the retinal vascular abnormalities.

Procedures

  • Skin biopsy is used to confirm the diagnosis.

Histologic Findings

The 4 cutaneous stages are associated with the following histologic findings:

  • Stage 1 has eosinophilic spongiosis that is characterized by spongiotic dermatitis with eosinophils in an inflammatory reaction, vacuolated basal cells, and dyskeratotic cells.
  • Stage 2 has papillated epidermal hyperplasia that is characterized by dyskeratotic cells, eosinophils in the dermis and epidermis, hyperkeratosis, acanthosis, and vacuolated basal cells.
  • Stage 3 is the postinflammatory stage that is characterized by a thickened papillary dermis, many melanophages, deposits of melanin in the dermis, and vacuolar alteration of epidermal basal cell layer.
  • Stage 4 is the atrophic, hypopigmented stage that is characterized by increased melanin in the upper dermal layers, hyperkeratosis, acanthosis, atrophy, scarring, and an absence of skin appendages.

More on Incontinentia Pigmenti

Overview: Incontinentia Pigmenti
Differential Diagnoses & Workup: Incontinentia Pigmenti
Treatment & Medication: Incontinentia Pigmenti
Follow-up: Incontinentia Pigmenti
Multimedia: Incontinentia Pigmenti
References
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Further Reading

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Keywords

Bloch-Sulzberger syndrome, incontinentia pigmenti type 2, skin pigmentation disorder, X-linked inherited disorder, loss of melanin, incontinentia pigmenti type 1, hypomelanosis of Ito, IP, hypohidrotic ectodermal dysplasia with severe immunodeficiency, EDAID, anhidrotic ectodermal dysplasia, EDA-ID, osteopetrosis, lymphedema, hemangiomas, OL-EDA-ID, hyper-IgM syndrome, NEMO gene

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Contributor Information and Disclosures

Author

Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Celia H Chang, MD is a member of the following medical societies: American Academy of Neurology and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

David A Griesemer, MD, Professor, Departments of Neurology and Pediatrics, Medical University of South Carolina
David A Griesemer, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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