eMedicine Specialties > Dermatology > Pediatric Diseases

Incontinentia Pigmenti: Differential Diagnoses & Workup

Author: Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 18, 2008

Differential Diagnoses

Acropustulosis of Infancy
Impetigo
Bullous Pemphigoid
Insect Bites
Dermatopathia Pigmentosa Reticularis
Langerhans Cell Histiocytosis
Epidermolysis Bullosa
Lichen Striatus
Focal Dermal Hypoplasia Syndrome
Mastocytosis
Herpes Simplex
Milia
Herpes Zoster
Miliaria
Hypomelanosis of Ito
Naegeli-Franceschetti-Jadassohn Syndrome

Other Problems to Be Considered

Stage 1 - Vesicular

Bullous impetigo
Herpes simplex
Varicella (herpes) zoster
Epidermolysis bullosa
Bullous mastocytosis
Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis)
Congenital bullous pemphigoid
Linear IgA bullous disease of childhood
Langerhans cell histiocytosis
Erythema toxicum
Miliaria
Acropustulosis of infancy
Arthropod assault

Stage 2 - Verrucous

Linear epidermal nevus
Lichen striatus
X-linked dominant chondrodysplasia punctata
Verruca vulgaris

Stage 3 - Pigmented

Linear and whorled nevoid hypermelanosis
Pigmentary mosaicism
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
X-linked dominant chondrodysplasia punctata

Stage 4 - Depigmented

Hypomelanosis of Ito (IP achromians)
Focal dermal hypoplasia syndrome (Goltz syndrome)
X-linked dominant chondrodysplasia punctata

Workup

Laboratory Studies

  • Leukocytosis and eosinophilia may be noted.
    • When acute inflammatory skin changes are present, eosinophilia (≤80%) may be seen in the peripheral blood.
    • Evidence of neutrophil dysfunction (defects in chemotaxis), lymphocyte dysfunction (decreased proliferation in response to mitogen stimulation), and altered immunologic reactivity has been reported in some patients. Quantitative immunoglobulin levels and lymphocyte subpopulation counts are normal.

Imaging Studies

  • Head CT scanning and brain MRI16 may demonstrate cerebral edema, hydrocephalus, structural brain abnormalities, cerebral infarctions, and hypointense areas or hypoattenuation.
  • Magnetic resonance spectroscopy and angiography have demonstrated reduced cerebral blood flow and elevated cerebrospinal fluid lactate levels, consistent with cerebral ischemia secondary to cerebrovascular occlusive events.17
  • Single-photon emission CT scanning may show decreased cerebral blood flow.18
  • EEG is helpful for localizing CNS lesions and epileptogenic foci in patients with seizures.

Other Tests

Procedures

  • Skin biopsy may be diagnostic if performed during the early vesicular and verrucous stages of IP (stages 1-2).

Histologic Findings

Stage 1 (vesicular)

Spongiotic dermatitis with eosinophil-filled intraepidermal vesicles and an eosinophilic epidermal and dermal infiltrate are seen. The epidermis often contains dyskeratotic cells, either singly or in small clusters.

Stage 2 (verrucous)

Acanthosis, papillomatosis, and hyperkeratosis with increased numbers of dyskeratotic cells, which sometimes form whorled collections,19 are seen. Basal cells show vacuolization and a decrease in melanin content. Eosinophils can persist in the epidermis and dermis, and melanophages are often present in the papillary dermis.

Stage 3 (hyperpigmented)

Melanin deposition in melanophages within a thickened papillary dermis is seen. Colloid bodies in the papillary dermis, dyskeratotic cells in the epidermis, and basal cell layer vacuolar changes may be seen. The histologic findings are often suggestive of IP but are not specific.

Stage 4 atrophic/hypopigmented)

Atrophic epidermis with loss of the normal rete ridge pattern and dermal eccrine structures with a reduction in basal melanocytes are seen. Colloid bodies may be seen. The histologic findings are nonspecific.

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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References

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Further Reading

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Keywords

IP, Bloch-Sulzberger syndrome, ectodermal dysplasia, neurocutaneous syndrome

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Contributor Information and Disclosures

Author

Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia
Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Bernice R Krafchik, MBChB, FRCPC, Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto
Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Director, Division of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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