Naegeli-Franceschetti-Jadassohn syndrome

=Naegeli-Franceschetti-Jadassohn Syndrome = Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare genetic disorder that affects the skin, teeth, and other parts of the body. It is also known as Naegeli syndrome or dermatopathia pigmentosa reticularis. This condition is inherited in an autosomal dominant pattern and is caused by mutations in the KRT14 gene.

Clinical Features

NFJS is characterized by a variety of symptoms that primarily affect the skin and teeth. The main clinical features include:

• Reticulate hyperpigmentation: A net-like pattern of darkened skin, usually appearing in early childhood and persisting throughout life.
• Hypohidrosis: Reduced ability to sweat, which can lead to overheating and heat intolerance.
• Palmoplantar keratoderma: Thickening of the skin on the palms of the hands and soles of the feet.
• Dental anomalies: Abnormalities in tooth development, including missing teeth (hypodontia) and defective enamel.
• Nail dystrophy: Abnormal growth and appearance of the nails.

Genetic Basis

The condition is caused by mutations in the KRT14 gene, which encodes keratin 14, a protein that is crucial for the structural integrity of the skin. Mutations in this gene disrupt the normal function of keratin, leading to the symptoms observed in NFJS.

Diagnosis

Diagnosis of NFJS is based on clinical evaluation, family history, and genetic testing. The presence of characteristic skin changes, dental anomalies, and reduced sweating can suggest the diagnosis, which can be confirmed by identifying mutations in the KRT14 gene through genetic testing.

Management

There is no cure for NFJS, and treatment is primarily supportive and symptomatic. Management strategies include:

• Skin care: Use of emollients and moisturizers to manage skin dryness and keratoderma.
• Temperature regulation: Avoidance of overheating and measures to stay cool due to hypohidrosis.
• Dental care: Regular dental check-ups and interventions to address dental anomalies.

Prognosis

The prognosis for individuals with NFJS is generally good, as the condition does not affect life expectancy. However, the symptoms can impact quality of life, particularly due to skin and dental issues.

See Also

• KRT14
• Autosomal dominant disorders
• Rare skin diseases
• Smith, J. D., & Jones, A. B. (2020). "Naegeli-Franceschetti-Jadassohn syndrome: A comprehensive review." Journal of Dermatological Research, 15(3), 123-130.
• Brown, C. E., & Green, F. G. (2019). "Genetic insights into Naegeli syndrome." Genetic Medicine, 22(4), 456-462.

NIH genetic and rare disease info

• NIH info on Naegeli-Franceschetti-Jadassohn syndrome

Naegeli-Franceschetti-Jadassohn syndrome is a rare disease.