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Dermatopathia Pigmentosa Reticularis: Differential Diagnoses & Workup

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Coauthor(s): Hong-Duo Chen, MD, PhD, Director, Immunodermatological Key Laboratory, China; Professor, Chairman, Department of Dermatology, Number 1 Hospital, China Medical University
Contributor Information and Disclosures

Updated: Feb 1, 2008

Differential Diagnoses

Dyskeratosis Congenita
Naegeli-Franceschetti-Jadassohn Syndrome

Other Problems to Be Considered

The diagnosis of DPR is based on the presence of the clinical triad and a typical histopathologic picture; however, the following hyperpigmentation disorders should be considered and excluded:

  • Acromelanosis progressiva
  • Hereditary symmetric dyschromatosis of Dohi
  • Reticular acropigmentation of Kitamura
  • Heterochromia extremitarium
  • Reticulate pigmented dermatosis of the flexures
  • Congenital diffuse mottling of the skin
  • Hereditary universal dyschromatosis
  • Dyskeratosis congenita syndrome
  • Franceschetti-Jadassohn or Naegeli syndrome

Points of differentiation

Each of the following demonstrate a distinctive distribution of pigmentation with diffuse frecklelike or reticulate hyperpigmentation on the dorsa of the hands and feet, the extremities, or the flexural areas (axillae, groin): acromelanosis progressiva, hereditary symmetric dyschromatosis of Dohi, reticular acropigmentation of Kitamura, heterochromia extremitarium, and reticulate pigmented dermatosis of the flexures.

Differentiation from congenital diffuse mottling of the skin can be made histopathologically by demonstrating clubbing of the rete ridges and hyperpigmentation of the basal layer without pigmentary incontinence.

Hereditary universal dyschromatosis is associated with hyperpigmented and hypopigmented macules of irregular shape and size, as well as small stature and high-tone deafness.

Dyskeratosis congenita syndrome is an X-linked condition and occurs most commonly in males, usually, in males older than 5 years. In addition to reticulate hyperpigmentation, nail dystrophy, and hyperkeratosis and atrophy of the palms and soles, patients with dyskeratosis congenita also have leukokeratosis of mucosal surfaces and blood dyscrasias.

Franceschetti-Jadassohn (Naegeli) syndrome is an autosomal dominant condition with gray-brown reticulate pigmentation of the trunk and neck that fades after adolescence. Dental anomalies and a bleeding tendency are frequently observed in these patients.

Franceschetti-Jadassohn (Naegeli) syndrome and DPR share complete absence of dermatoglyphics; a reticulate pattern of hyperpigmentation; palmoplantar keratoderma; abnormal sweating; and anomalies of the teeth, hair, and skin.8

Workup

Laboratory Studies

No abnormal laboratory findings have been consistently documented.

Procedures

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

Histologic Findings

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

More on Dermatopathia Pigmentosa Reticularis

Overview: Dermatopathia Pigmentosa Reticularis
Differential Diagnoses & Workup: Dermatopathia Pigmentosa Reticularis
Treatment & Medication: Dermatopathia Pigmentosa Reticularis
Follow-up: Dermatopathia Pigmentosa Reticularis
References
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References

  1. Bu TS, Kim YK, Whang KU. A case of dermatopathia pigmentosa reticularis. J Dermatol. Apr 1997;24(4):266-9. [Medline].

  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. 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].

  4. 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].

  5. Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, 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].

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

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

  8. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, 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].

  9. Fulk CS. Primary disorders of hyperpigmentation. J Am Acad Dermatol. Jan 1984;10(1):1-16. [Medline].

  10. Maso MJ, Schwartz RA, Lambert WC. Dermatopathia pigmentosa reticularis. Arch Dermatol. Jul 1990;126(7):935-9. [Medline].

  11. Rycroft RJ, Calnan CD, Allenby CF. Dermatopathia pigmentosa reticularis. Clin Exp Dermatol. Mar 1977;2(1):39-44. [Medline].

  12. Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg. Mar 1997;16(1):72-80. [Medline].

  13. van der Lugt L. Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans. Dermatologica. 1970;140(5):294-302. [Medline].

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Further Reading

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Keywords

DPR, Naegeli-Franceschetti-Jadassohn, NFJ, NFJS

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Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Hong-Duo Chen, MD, PhD, Director, Immunodermatological Key Laboratory, China; Professor, Chairman, Department of Dermatology, Number 1 Hospital, China Medical University
Disclosure: Nothing to disclose.

Medical Editor

Jacek C Szepietowski, MD, PhD, Professor and Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Poland
Disclosure: Stiefel Salary Employment

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

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

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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, 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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