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Xu, R. Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4462 (accessed on 21 September 2026).
Xu R. Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4462. Accessed September 21, 2026.
Xu, Rita. "Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis" Encyclopedia, https://encyclopedia.pub/entry/4462 (accessed September 21, 2026).
Xu, R. (2020, December 23). Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis. In Encyclopedia. https://encyclopedia.pub/entry/4462
Xu, Rita. "Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis." Encyclopedia. Web. 23 December, 2020.
Naegeli-Franceschetti-Jadassohn Syndrome/Dermatopathia Pigmentosa Reticularis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.

genetic conditions

References

  1. Heimer WL 2nd, Brauner G, James WD. Dermatopathia pigmentosa reticularis: areport of a family demonstrating autosomal dominant inheritance. J Am AcadDermatol. 1992 Feb;26(2 Pt 2):298-301.
  2. Itin PH, Lautenschlager S, Meyer R, Mevorah B, Rufli T. Natural history of theNaegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol. 1993 Jun;28(6):942-50.
  3. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, HenniesHC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosareticularis: two allelic ectodermal dysplasias caused by dominant mutations inKRT14. Am J Hum Genet. 2006 Oct;79(4):724-30.
  4. Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R,Richard G, Sprecher E. KRT14 haploinsufficiency results in increasedsusceptibility of keratinocytes to TNF-alpha-induced apoptosis and causesNaegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008Jun;128(6):1517-24.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 655
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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