Naegeli-Franceschetti-Jadassohn Syndrome 

  • Author: Rebekah H Clifford, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Apr 20, 2012
 

Background

Description

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare autosomal dominant form of ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. The incidence is estimated to be 1 case in 2-4 million population. NFJ syndrome is entry 161000 in the Online Mendelian Inheritance in Man database. The syndrome is allelic to dermatopathia pigmentosa reticularis.

In 1927, Naegeli first described the syndrome as familiãrer Chromatophoren-Naevus in a Swiss family. In 1954, Franceschetti and Jadassohn further analyzed the syndrome, as did Itin and colleagues in 1993.

NFJ syndrome is a reticulate pigmentary disorder. Other reticulate pigmentary diseases include X-linked reticulate pigmentary disorder, dermatopathia pigmentosa reticularis, Dowling-Degos disease, dyschromatosis, confluent and reticulated papillomatosis of Gougerot and Carteaud, and reticulated acropigmentation of Kitamura.

Differential diagnoses

Franceschetti and Jadassohn distinguished Naegeli syndrome from incontinentia pigmenti (Bloch-Sulzberger syndrome) by the equal frequency of the disorder in males and females and by the presence of palmar and plantar hyperkeratosis, hypohidrosis, and dental abnormalities. In contrast, incontinentia pigmenti is inherited as an X-linked dominant trait.

Dermatopathia pigmentosa reticularis, allelic to NFJ, shares many features but is distinguished by alopecia, reticulate pigmentation that lasts into adulthood, and the lack of dental abnormalities.[1] Dyskeratosis congenita patients can have dental findings, reticulate hyperpigmentation, adermatoglyphia, palmoplantar hyperkeratosis, and nail anomalies similar to NFJ patients. However, these patients may have alopecia, premalignant leukoplakia, poikiloderma, and blood dyscrasias and dyskeratosis congenita is inherited most commonly in an X-linked recessive manner.

The distribution of the reticulate pigmentation in Dowling-Degos, dyschromatosis symmetrica and hereditaria, and reticulate acropigmentation of Kitamura makes these disorders easier to distinguish.[1]

Hereditary bullous acrokeratotic poikiloderma of Weary-Kindler has some striking similarities to NFJ syndrome. However, hyperhidrosis is not reported with this entity, and dental abnormalities are only rarely observed.[2]

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Pathophysiology

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome may be associated with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21 (see Causes).

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Epidemiology

Frequency

United States

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare.

International

The estimated incidence of Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is approximately 1 case in 2-4 million population.

Race

Several families with Naegeli-Franceschetti-Jadassohn (NFJ) syndrome have been reported in Switzerland, Japan, Italy, and Greece (see Physical).

Sex

No sexual predilection is recognized for Naegeli-Franceschetti-Jadassohn (NFJ) syndrome.

Age

Because of the inability to sweat, Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is usually diagnosed early in life. The lack of fingerprint lines (ie, dermatoglyphics) can be easily checked.

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Contributor Information and Disclosures
Author

Rebekah H Clifford, MD  Resident Physician, Department of Dermatology, Walter Reed 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 Women's Association, and 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, and Association of Military Dermatologists

Disclosure: Nothing to disclose.

Specialty Editor Board

James Fulton Jr, MD, PhD  Center for Cosmetic Dermatology; Consultant, Vivant Pharmaceuticals, LLC

James Fulton Jr, MD, PhD is a member of the following medical societies: American Academy of Cosmetic Surgery, American Academy of Dermatology, American Society for Laser Medicine and Surgery, Dermatology Foundation, International Society of Cosmetic and Laser Surgeons, and Skin Cancer Foundation

Disclosure: Vivant Pharmaceuticals Grant/research funds Consulting

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.

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.

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 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

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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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