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Naegeli-Franceschetti-Jadassohn Syndrome Treatment & Management

  • Author: Rebekah H Clifford, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 03, 2014
 

Medical Care

No treatment is effective for Naegeli-Franceschetti-Jadassohn (NFJ) syndrome. As with other ectodermal dysplasias, exposure to heat should be limited and sufficient hydration is recommended. Tooth care to prevent early caries is indicated. Doxycycline has been found to interfere with tumor necrosis factor-alpha (TNF-alpha)–mediated signaling and apoptosis in vitro and may have a role in future treatment.[1]

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Activity

Sports-related exercise should be restricted to only nonexhausting activities. In particular, patients with Naegeli-Franceschetti-Jadassohn (NFJ) syndrome can be allowed to swim.

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Contributor Information and Disclosures
Author

Rebekah H Clifford, MD Attending Physician, Department of Dermatology, William Beaumont Army Medical Center

Rebekah H Clifford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Medical Womens Association, Women's Dermatologic Society

Disclosure: Nothing to disclose.

Coauthor(s)

Kenneth J Galeckas, MD Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences; Staff Dermatologist, Director, Laser and Cosmetic Clinic, Intern and Medical Student Coordinator, Department of Dermatology, National Naval Medical Center

Kenneth J Galeckas, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Dermatologic Surgery, Association of Military Dermatologists

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Ulrich Hengge, MD, MBA, Theo Rufli, MD, and Peter Itin, MD, to the development and writing of this article.

References
  1. 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. 2006 Oct. 79(4):724-30. [Medline].

  2. Larrègue M, Prigent F, Lorette G, Canuel C, Ramdenee P. [Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma (author's transl)]. Ann Dermatol Venereol. 1981. 108(1):69-76. [Medline].

  3. Mevorah B, Frascarolo P, Gianadda E, Donatsch J. Sweat studies under conditions of moderate heat stress in two patients with the Nägeli-Franceschetti-Jadassohn syndrome. Dermatology. 1993. 187(3):174-7. [Medline].

  4. Frenk E, Mevorah B, Hohl D. The Nageli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis. Dermatology. 1993. 187(3):169-73. [Medline].

  5. Zillikens D, Mehringer A, Lechner W, Burg G. Hypo- and hyperpigmented areas in incontinentia pigmenti. Light and electron microscopic studies. Am J Dermatopathol. 1991 Feb. 13(1):57-62. [Medline].

  6. Naegeli O. Familiarer Chromnatophotennes. Schweiz Med Wochenschr. 1927. 8:48.

  7. Franceschetti A, Jadassohn W. [On incontinentia pigmenti and differentiation of two syndromes appearing under the same name.]. Dermatologica. 1954 Jan. 108(1):1-28. [Medline].

  8. Sparrow GP, Samman PD, Wells RS. Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. Clin Exp Dermatol. 1976 Jun. 1(2):127-40. [Medline].

  9. 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. 1993 Jun. 28(6):942-50. [Medline].

  10. Kitamura K, Hirako T. [Two Japanese cases of a peculiar reticulous pigmentation.]. Dermatologica. 1955 Feb. 110(2):97-107. [Medline].

  11. Levi L, Galbiati G, Ghislanzoni G. [Reticular pigmentary dermatitis of Franceschetti-Jadassohn syndrome. Case report]. G Ital Dermatol Minerva Dermatol. 1971 Jul. 46(7):319-22. [Medline].

  12. Papini M. Sindrome di Naegeli-Franceschetti-Jadassohn. Ann Ital Dermatol Clin Sper. 1978. 32:281-292.

  13. van Steensel MA, Lemmink HH. A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. J Eur Acad Dermatol Venereol. 2010 Sep. 24(9):1116-7. [Medline].

  14. Tubaigy SM, Hassan HM. Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family. J Forensic Sci. 2014 Mar. 59(2):555-8. [Medline].

  15. Tzermias C, Zioga A, Hatzis I. Reticular pigmented genodermatosis with milia--a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity?. Clin Exp Dermatol. 1995 Jul. 20(4):331-5. [Medline].

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

  17. Bhandari V, Bateman A. Structure and chromosomal location of the human granulin gene. Biochem Biophys Res Commun. 1992 Oct 15. 188(1):57-63. [Medline].

  18. Zhao Z, Lee CC, Baldini A, Caskey CT. A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. Genomics. 1995 May 20. 27(2):370-3. [Medline].

  19. Emi M, Katagiri T, Harada Y, et al. A novel metalloprotease/disintegrin-like gene at 17q21.3 is somatically rearranged in two primary breast cancers. Nat Genet. 1993 Oct. 5(2):151-7. [Medline].

  20. Margolis B, Silvennoinen O, Comoglio F, et al. High-efficiency expression/cloning of epidermal growth factor-receptor-binding proteins with Src homology 2 domains. Proc Natl Acad Sci U S A. 1992 Oct 1. 89(19):8894-8. [Medline]. [Full Text].

  21. Froelich S, Houlden H, Rizzu P, et al. Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. Genomics. 1999 Sep 1. 60(2):129-36. [Medline].

  22. Whiting DA. Naegeli´s reticular pigmented dermatosis. Br J Dermatol. 1971. 85:71-73.

  23. Lugassy J, McGrath JA, Itin P, et al. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun. 128(6):1517-24. [Medline].

  24. 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. 2007 Jun-Jul. 134(6-7):595. [Medline].

  25. Titeux M, Décha A, Pironon N, et al. A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2011 Oct. 131(10):2131-3. [Medline].

  26. Engman MF. Congenital atrophy of the skin with reticular pigmentation. JAMA. 1935. 103:1252-6.

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

  28. Griffiths WA. Reticulate pigmentary disorders--a review. Clin Exp Dermatol. 1984 Sep. 9(5):439-50. [Medline].

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

  30. Kudo Y, Fujiwara S, Takayasu S, Ooki H, Ogawa A. Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome?. Int J Dermatol. 1995 Jan. 34(1):30-1. [Medline].

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

  32. Rebora A, Crovato F. The spectrum of Dowling-Degos disease. Br J Dermatol. 1984 May. 110(5):627-30. [Medline].

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

  34. Tidman MJ, Wells RS, MacDonald DM. Pachyonychia congenita with cutaneous amyloidosis and hyperpigmentation--a distinct variant. J Am Acad Dermatol. 1987 May. 16(5 Pt 1):935-40. [Medline].

  35. Zinsser F. Atrophia curis reticularis cum pigmentatione, dystrophia et leukoplakia oris. Ikonogr Dermat. 1910. 5:219-223.

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Lack of dermatoglyphics in a patient with Naegeli-Franceschetti-Jadassohn syndrome.
Reticulated pigmentation on the trunk in a patient with Naegeli-Franceschetti-Jadassohn syndrome.
Periorbital reticulated pigmentation in a patient with Naegeli-Franceschetti-Jadassohn syndrome.
Spotty palmoplantar hyperkeratosis in Naegeli-Franceschetti-Jadassohn syndrome.
Defective denture with yellow spots on the enamel in a patient with Naegeli-Franceschetti-Jadassohn syndrome.
 
 
 
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