20 results match your criteria Naegeli-Franceschetti-Jadassohn Syndrome

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Naegeli-Franceschetti-Jadassohn syndrome: A rare case.

Indian Dermatol Online J 2015 Nov-Dec;6(6):403-6

Department of Dermatology, BJ Medical College, Civil Hospital, Ahmedabad, Gujarat, India.

Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene. We report here a case of NFJS in a 27-year-old male who presented with reticulate hyperpigmentation over skin, dental changes, absence of dermatoglyphics, hypohidrosis, and hair changes. Read More

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January 2016
5 Reads

Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.

J Forensic Sci 2014 Mar 21;59(2):555-8. Epub 2013 Nov 21.

Department of Medico Legal Medicine, Public Security, Ministry of Interior, P.O. Box 103223, Riyadh, 11695, Saudi Arabia.

In the course of applying to become a soldier, a 23-year-old Saudi Arabian man was found to have no fingerprints. Further medical examination has been carried out for the young man and for the rest of family members including two sisters, mother, and brothers except the father who had died sometime previously. Subsequent medical investigations suggested that he and his two brothers displayed most of the features of the Naegeli-Franceschetti-Jadassohn (NFJ) syndrome. Read More

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March 2014
10 Reads

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 2011 May-Jun;54(3):231-5. Epub 2011 Jan 18.

Department of Pediatrics, University of Torino, Torino, Italy.

Naegeli(-Franceschetti-Jadassohn) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation localization and hair and dental manifestations. They resemble Dyskeratosis Congenita and Poikiloderma Clericuzio type in many of the skin changes, but especially the presence of leukoplakia and bone marrow disfunctioning in the first, and of telangiectasias, generalized hyperkeratosis of palms and soles, and nail pachyonychia in the latter are distinguishing features. Read More

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September 2011
5 Reads

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

J Invest Dermatol 2008 Jun 29;128(6):1517-24. Epub 2007 Nov 29.

Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin. We recently demonstrated that NFJS is caused by heterozygous nonsense or frameshift mutations in the E1/V1-encoding region of KRT14, but the mechanisms for their deleterious effects in NFJS remain elusive. In this study, we further expand the spectrum of NFJS-causing mutations and demonstrate that these mutations result in haploinsufficiency for keratin 14 (K14). Read More

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June 2008
7 Reads

[Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis. Two allelic ectodermal dysplasias related to mutations of dominant gene coding for keratin 14].

Authors:
O Dereure

Ann Dermatol Venereol 2007 Jun-Jul;134(6-7):595

Service de Dermatologie, Hôpital Saint Eloi, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5.

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October 2007
2 Reads

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Am J Hum Genet 2006 Oct 25;79(4):724-30. Epub 2006 Aug 25.

Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion-Israel Institute of Technology, Haifa, Israel.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. To decipher the molecular basis of these disorders, we studied one family with DPR and four families with NFJS. We initially reassessed linkage of NFJS/DPR to a previously established locus on 17q11. Read More

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October 2006
13 Reads

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 2002 Sep;119(3):692-8

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Read More

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September 2002
6 Reads

The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.

J Invest Dermatol 2000 Oct;115(4):694-8

Department of Cell and Molecular Pathology, St John's Institute of Dermatology, The Guy's, King's College, and St Thomas' Hospitals' Medical School, London, UK.

Naegeli-Franceschetti-Jadassohn syndrome is a rare autosomal dominant form of ectodermal dysplasia affecting sweat glands, nails, teeth, and skin. We have studied a multigeneration family of Anglo-Saxon British descent using microsatellite markers to screen candidate loci, including the epidermal differentiation complex on 1q, the keratin gene clusters on chromosomes 12q and 17q and the desmosomal cadherin gene cluster on chromosome 18q. Significant genetic linkage to chromosome 17q was observed using marker D17S 1787, with a maximum two-point LOD score of 4. Read More

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October 2000
7 Reads

Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

Am J Med Genet 1999 Aug;85(4):351-4

Department of Dermatology, University of Basel, Basel, Switzerland.

Autosomal dominant inherited disorders of the skin sometimes present as a segmental phenotype. In recent years molecular studies have demonstrated that genetic mosaicism leads to such a clinical manifestation. In general the skin outside the segmental disorder is normal. Read More

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August 1999
1 Read

Genodermatosis with reticulate, patchy and mottled pigmentation of the neck--a clue to rare dermatologic disorders.

Dermatology 1998 ;197(3):281-90

Department of Dermatology, University of Basel, and Abteilung für Dermatologie, Kantonsspital Aarau, Switzerland.

Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. Read More

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December 1998
6 Reads

Reticulate hyperpigmentation.

Semin Cutan Med Surg 1997 Mar;16(1):72-80

Department of Pediatrics, Children's Regional Hospital, Cooper and Hospital/University Medical Center, Camden, NJ 08103, USA.

Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is the prototype of these. In addition to reticulate hyperpigmentation, mucosal leukoplakia, bone marrow dysfunction, cytogenetic instability, and a predisposition to malignancy are characteristic of DKC. Read More

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March 1997
2 Reads

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

Department of Skin and Venereal Diseases, University of Ioannina, Greece.

A 19-year-old woman with a condition since birth, comprising reticular hyperpigmentation, palmoplantar hyperkeratosis, dental anomalies, hypoplasia of dermatoglyphics and a slight yellowish hue to the nails is presented. Her father and grandfather were similarly affected. The reticular hyperpigmentation, although generalized, was more intense on the flexural areas where extensive milia formation was also observed. Read More

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July 1995
4 Reads

Natural history of the Naegeli-Franceschetti-Jadassohn syndrome.

Authors:
M Papini

J Am Acad Dermatol 1994 Nov;31(5 Pt 1):830

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November 1994
8 Reads

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

Department of Dermatology, University of Basel, Switzerland.

Background: The Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is rare; only three families have been reported.

Objective: Our purpose was to determine the natural history of this ectodermal dysplasia and to delineate further its clinical manifestations.

Methods: We reexamined the original family with the NFJ syndrome 65 years after the first description. Read More

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June 1993
4 Reads
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