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Ichthyosis Fetalis: Differential Diagnoses & Workup

Author: Julie Prendiville, MB, BCh, Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada
Contributor Information and Disclosures

Updated: Oct 21, 2008

Differential Diagnoses

Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
Ichthyosis Vulgaris, Hereditary and Acquired
Ichthyosis, Lamellar
Ichthyosis, X-Linked
Sjogren-Larsson Syndrome
Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)

Other Problems to Be Considered

Collodion baby (a newborn with LI)
Self-healing LI of the newborn
Conradi disease
Trichothiodystrophy
Recessive X-linked ichthyosis
Restrictive dermopathy

Workup

Laboratory Studies

  • Genetic testing for mutations in the ABCA12 gene is available. Complete sequence analysis of the coding region of this gene is performed to identify specific mutations. Peripheral blood cells or cells from a buccal smear from affected individuals are required. Extensive information regarding genetic testing for ichthyosis fetalis is available from GeneDx.
    • Carrier testing is available for relatives after the proband's mutation is identified.
    • Prenatal diagnosis is available for fetuses with suspected HI who may or may not have a family history of the disorder.9,10
  • The following laboratory investigations may be helpful in the newborn period to identify complications of ichthyosis fetalis:
    • Check the WBC count and blood cultures for signs of infection.
    • Closely monitor serum electrolyte levels, which may be abnormal secondary to dehydration.
    • Check BUN and creatinine levels for signs of renal failure.
    • Monitor hemoglobin levels because anemia is reported.

Imaging Studies

  • Prenatal ultrasonography, particularly 3-dimensional (3D) ultrasonography, may show features suggestive of HI. See Special Concerns.11,12,13
  • Chest radiography may be indicated if respiratory distress is present postnatally.
  • Renal ultrasonography may be indicated if renal failure or poor urine output is evident or if findings from the physical examination are abnormal. Renal dysplasia has been described in ichthyosis fetalis.
  • No other specific imaging studies are indicated. Further investigations should be based on the history and findings from physical examination.

Procedures

  • Skin biopsy at any cutaneous site (including the palms and the soles, excluding mucous membranes) shows characteristic histologic and ultrastructural features.

Histologic Findings

The stratum corneum is thick and compact. Hyperkeratosis may be more marked around hair follicles compared with the interfollicular epidermis. Parakeratosis and orthokeratosis may be present, particularly on the fingers and the toes. Cells within the stratum corneum are abnormally keratinized. Granular, spinous, and basal cell layers appear unremarkable. Inflammatory cells may infiltrate the papillary dermis.

Electron microscopy reveals absent or abnormal lamellar granules within the granular layer keratinocytes. Lamellae are absent in the intercellular spaces between the granular cell layer and the cornified cell layer. Densely packed lipid droplets and vacuoles are seen within the cytoplasm of the aberrantly cornified cells of the stratum corneum. These lipid inclusions involve the entire skin surface but are more evident on the palms and the soles. Keratohyalin granules may be absent, normal, or abnormally small and globular. Keratin intermediate filaments within granular cells may have reduced density.

More on Ichthyosis Fetalis

Overview: Ichthyosis Fetalis
Differential Diagnoses & Workup: Ichthyosis Fetalis
Treatment & Medication: Ichthyosis Fetalis
Follow-up: Ichthyosis Fetalis
Multimedia: Ichthyosis Fetalis
References
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References

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Further Reading

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Keywords

ichthyosis fetalis, harlequin ichthyosis, HI, harlequin baby, ichthyosis congenita, keratosis diffusa fetalis, harlequin fetus

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Contributor Information and Disclosures

Author

Julie Prendiville, MB, BCh, Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada
Julie Prendiville, MB, BCh is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Abby S Van Voorhees, MD, Assistant Professor, Director of Psoriasis Services and Phototherapy Units, Department of Dermatology, University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania
Abby S Van Voorhees, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, National Psoriasis Foundation, Phi Beta Kappa, Sigma Xi, and Women's Dermatologic Society
Disclosure: Amgen Honoraria Consulting; Astellas Grant/research funds Other; Abbott Honoraria Consulting; Genentech Honoraria Consulting; Incyte Grant/research funds Other; Centocor Honoraria Consulting; Warner Chilcott  Consulting; Merck Salary Review panel membership

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

 
 
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