Dermatopathia Pigmentosa Reticularis Workup

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 18, 2011
 

Laboratory Studies

No abnormal laboratory findings have been consistently documented in persons with dermatopathia pigmentosa reticularis.

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Procedures

Cutaneous biopsy findings may be helpful when making the diagnosis of dermatopathia pigmentosa reticularis. Excisional or punch biopsy of the reticular pigmentation may be helpful.

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Histologic Findings

The typical histopathologic picture of dermatopathia pigmentosa reticularis shows liquefaction degeneration of the basal layer and dermal pigmentary incontinence. That is, an interface dermatitis can be present.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and New York Eye and Ear Infirmary; Private Practice

Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Optigenex Consulting fee Independent contractor

Coauthor(s)

Hong-Duo Chen, MD  Director, Immunodermatological Key Laboratory; Professor, Department of Dermatology, Number 1 Hospital, China Medical University, China

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-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.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

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.

References

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  2. Dereure O. [Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14]. Ann Dermatol Venereol. Jun-Jul 2007;134(6-7):595. [Medline].

  3. Oldak M, Kowalewski C, Maksym RB, et al. Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach. J Dermatol Sci. Jan 2010;57(1):69-70. [Medline].

  4. Liovic M, D'Alessandro M, Tomic-Canic M, Bolshakov VN, Coats SE, Lane EB. Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes. Exp Cell Res. Oct 15 2009;315(17):2995-3003. [Medline].

  5. van Steensel MA, Lemmink HH. A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. J Eur Acad Dermatol Venereol. Feb 17 2010;[Medline].

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  7. Heimer WL 2nd, Brauner G, James WD. Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. J Am Acad Dermatol. Feb 1992;26(2 Pt 2):298-301. [Medline].

  8. Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T. Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol. Jun 1993;28(6):942-50. [Medline].

  9. Sprecher E, Itin P, Whittock NV, et al. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol. Sep 2002;119(3):692-8. [Medline].

  10. Whittock NV, Coleman CM, McLean WH, et al. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol. Oct 2000;115(4):694-8. [Medline].

  11. Goh BK, Common JE, Gan WH, Kumarasinghe P. A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. Clin Exp Dermatol. Apr 2009;34(3):340-3. [Medline].

  12. Brar BK, Mehta V, Kubba A. Dermatopathia pigmentosa reticularis. Pediatr Dermatol. Sep-Oct 2007;24(5):566-70. [Medline].

  13. Belligni EF, Dokal I, Hennekam RC. Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?. Eur J Med Genet. May-Jun 2011;54(3):231-5. [Medline].

  14. Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. Oct 2006;79(4):724-30. [Medline].

  15. Tunca M, Koc E, Akar A, Erbil AH, Tastan HB. Early-onset gastric carcinoma in a man with dermatopathia pigmentosa reticularis. Int J Dermatol. Jun 2008;47(6):641-3. [Medline].

 
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