Pachyonychia Congenita Workup

  • Author: Saira J George, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 9, 2010
 

Laboratory Studies

Molecular DNA analysis in pachyonychia congenita reveals missense mutations, deletion mutations, substitution mutations, and other mutations of keratin genes K6a, K6b, K16, and K17.

Oral leukokeratosis is to be differentiated from leukoplakia or cancer either by performing an oral biopsy or by recognizing its presence in patients with other symptoms of pachyonychia congenita.

Microscopy or culture of nail clippings or scrapings can help differentiate candidal or fungal onychomycosis from pachyonychia.

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Histologic Findings

Histologic examination of plantar hyperkeratotic plaques reveals an acanthotic epidermis with parakeratosis and orthokeratosis compatible with rapid keratinocyte proliferation and differentiation. Cytologic atypia is not seen. Immunostaining shows positive immunostaining of K14, as would be expected along with K6, K16, K17 in the basal cell layer. In the suprabasal layers, K6, K16, K17, and K14 staining persists and K10 staining appears.[5, 25, 26]

Electron microscopy on palmar or plantar plaques shows thickened and clumped intermediate filaments, as well as enlarged keratohyaline granules. In the broadened granular layer, thick masses of tonofilaments and large, irregular keratohyaline granules are present. In the spinous layer, thick masses of tonofilaments are found at the periphery of the cells.

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Contributor Information and Disclosures
Author

Saira J George, MD  Staff Dermatologist, Dermatological Association of Texas

Saira J George, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Gregory J Raugi, MD, PhD  Professor, Department of Internal Medicine, Division of Dermatology, University of Washington at Seattle School of Medicine; Chief, Dermatology Section, Primary and Specialty Care Service, Veterans Administration Medical Center of Seattle

Gregory J Raugi, MD, PhD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside 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: Nothing to disclose.

Lester F Libow, MD  Dermatopathologist, South Texas Dermatopathology Laboratory

Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Texas Medical Association

Disclosure: Nothing to disclose.

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, 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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, and previous author, Aleksej Kansky, MD, PhD, to the development and writing of this article.

References

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The most prominent feature is a substantially thickened, brownish gray nail plate with a rough surface.
Leukokeratosis of the oral mucosa is a prominent sign. Patchy whitish areas may be seen on the back of the tongue; the buccal mucosa; and sometimes, the gingiva.
Hyperkeratotic lesions of the skin may involve acanthosis, hyperkeratosis, and parakeratosis.
 
 
 
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