Naegeli syndrome

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Classification according to ICD-10
Q82.4 Ectodermal dysplasia (anhidrotic)
ICD-10 online (WHO version 2019)

The Naegeli syndrome , also known as Naegeli-Franceschetti-Jadassohn syndrome ( NFJS ) and NFJ syndrome called, is a very rare genetic disease , the autosomal - dominant inherited. It is a form of anhidrotic reticular pigment dermatosis (skin disease). It was named after the dermatologist Oskar Naegeli .

root cause

Naegeli syndrome is inherited as an autosomal dominant trait. This affects the keratin 14 gene (KRT14), which is located on chromosome 17 gene locus q11.2-q21.

Prevalence

Naegeli syndrome is a very rare hereditary disease. So far, five generations of multiple families have been described in the literature. Men and women are equally affected.

Symptoms and ailments

All patients affected by Naegeli syndrome have changes in the skin , such as the lack of fingerprints ( dermatoglyphs ) and reticulate hyperpigmentation of the skin, which decreases with age. Changes in the sweat glands ( anhidrosis ) can also be observed, which mean that the patient can only excrete less sweat. This is the main problem for most NFJS patients.

Changes to the dentin , blistering of the skin, and deformation of the toenails are seen in many, but not all, patients . The teeth of almost all patients are affected by the disease and are usually completely lost at a young age.

The symptoms are similar to Bloch-Sulzberger syndrome .

Differential diagnosis

Different types of other allelic diseases due to mutations in the KRT14 gene, such as dermatopathia pigmentosa reticularis and epidermolysis bullosa simplex, are to be distinguished.

therapy

There is no known causal treatment. Therapy is symptomatic.

Naming

The disease is named after the Swiss dermatologist Oskar Naegeli (1885–1959), who first described it in 1927 in a Swiss family in which the father and two of his daughters were affected.

In a second study of this family, carried out in 1954, Adolphe Franceschetti (1896–1968) and Werner Jadassohn (1897–1973) were able to clarify the autosomal dominant inheritance of the disease and differentiate it from Bloch-Sulzberger syndrome ( Incontinentia pigmenti ).

65 years after Naegeli's discovery, the family was re-examined. Of the now 62 members of the family tree, 14 people were affected by Naegeli syndrome.

Individual evidence

  1. ^ A b Roche Lexicon Medicine, 5th edition.
  2. ↑ Keratin 14.  In: Online Mendelian Inheritance in Man . (English).
  3. ↑ NV Whittock include: The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. In: Journal of Investigative Dermatology 115/2000, pp. 694-698. PMID 10998145 .
  4. ↑ Orpha.net Naegeli-Franceschetti-Jadassohn syndrome , accessed June 3, 2008.
  5. ↑ OMIM KRT14
  6. ↑ B. Naegeli: Familiar Chromatophorennavus. In: Switzerland. Med. Wschr. 8/1927, p. 48.
  7. ↑ whonamedit.com: Oskar Naegeli , accessed on June 3, 2008.
  8. ↑ whonamedit.com: Adolphe Franceschetti , accessed on June 3, 2008
  9. ^ A. Franceschetti, W. Jadassohn: A propos de "l'incontinentia pigmenti," délimitation de deux syndromes différents figurant sous le même terme. In: Dermatologica 108/1954, pp. 1-28.
  10. ^ PH Itin et al.: Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. In: Journal of the American Academy of Dermatology 28/1993, pp. 942-950. PMID 8496458 .

literature

  • J. Lugassy et al.: Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. In: Am J Hum Genet 79/2006, pp. 724-730. PMID 16960809 .
  • J. Lugassy et al .: KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-Induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. In: Journal of Investigative Dermatology 128/2008, pp. 1517-1524. PMID 18049449 .
  • E. Spokesman ao: Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. In: Journal of Investigative Dermatology 119/2002, pp. 692-698. PMID 12230514 .
  • C. Tzermias et al: Reticular pigmented genodermatosis with milia - a special form of Naegeli-Franceschetti-Jadassohn syndrome or a new entity? In: Clinical and Experimental Dermatology 20/1995, pp. 331-335. PMID 8548993 .
  • Y. Kudo et al .: Reticulate pigmentary dermatosis associated with hypohydrosis and short stature: a variant of Naegeli-Franceschetti-Jadassohn syndrome? In: International Journal of Dermatology 34/1995, pp. 30-31. PMID 7896482 .
  • M. Papini: Natural history of the Naegeli-Franceschetti-Jadassohn syndrome. In: Journal of the American Academy of Dermatology 31/1994, p. 830. PMID 7929942 .
  • GP Sparrow et al: Hyperpigmentation and hypohidrosis. (The Naegeli-Franceschetti-Jadassohn syndrome): report of a family and review of the literature. In: Clinical and Experimental Dermatology 1/1976, pp. 127-140. PMID 939040 .
  • When the doctor cannot make a diagnosis. In: Ärzteblatt from May 20, 2008.

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