Harlequin Ichthyosis Workup

  • Author: Julie Prendiville, MBBCh; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 28, 2011
 

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 harlequin ichthyosis 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 harlequin ichthyosis who may or may not have a family history of the disorder.[10, 11]

The following laboratory investigations may be helpful in the newborn period to identify complications of harlequin ichthyosis:

  • 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.
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Imaging Studies

Prenatal ultrasonography, particularly 3-dimensional (3D) ultrasonography, may show features suggestive of harlequin ichthyosis. See Special Concerns.[12, 13, 14]

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 harlequin ichthyosis.

No other specific imaging studies are indicated. Further investigations should be based on the history and findings from physical examination.

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Procedures

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

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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.

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Contributor Information and Disclosures
Author

Julie Prendiville, MBBCh  Clinical Professor in Pediatrics, University of British Columbia; Head, Division of Pediatric Dermatology, British Columbia's Children's Hospital, Canada

Julie Prendiville, MBBCh is a member of the following medical societies: American Academy of Dermatology, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

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; Abbott Honoraria Consulting; Merck Salary Management position; Abbott Honoraria Speaking and teaching; Amgen Honoraria Review panel membership; Centocor Honoraria Consulting; Leo Consulting; Merck None Other

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster 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.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

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.

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 Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Sheila Au, MD, to the development and writing of this article.

References

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Ichthyosis fetalis. Courtesy of Dr Bernice Krafchik.
Ichthyosis fetalis. Courtesy of Jason K Rivers, MD, FRCPC, and Dr Lawler.
 
 
 
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