Naegeli–Franceschetti–Jadassohn syndrome

Autosomal dominant - en

Naegeli–Franceschetti–Jadassohn syndrome (NFJS) is a rare genetic disorder that primarily affects the skin. It is also known as Naegeli syndrome or Dermatopathia pigmentosa reticularis. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with Naegeli–Franceschetti–Jadassohn syndrome typically present with a variety of skin abnormalities. These may include:

• Reticulate pigmentation: A net-like pattern of dark pigmentation on the skin, usually appearing in early childhood.
• Hypohidrosis: Reduced ability to sweat, which can lead to overheating.
• Palmoplantar keratoderma: Thickening of the skin on the palms of the hands and the soles of the feet.
• Dental anomalies: Abnormalities in the development and structure of teeth.
• Nail dystrophy: Abnormal growth and appearance of the nails.

Genetics

Naegeli–Franceschetti–Jadassohn syndrome is caused by mutations in the KRT14 gene, which provides instructions for making a protein called keratin 14. This protein is essential for the structural integrity of the skin, hair, and nails. Mutations in the KRT14 gene disrupt the normal function of keratin 14, leading to the characteristic features of the disorder.

Diagnosis

The diagnosis of Naegeli–Franceschetti–Jadassohn syndrome is based on clinical evaluation, family history, and genetic testing. Dermatological examination can reveal the characteristic skin changes, while genetic testing can confirm the presence of mutations in the KRT14 gene.

Management

There is no cure for Naegeli–Franceschetti–Jadassohn syndrome, and treatment is primarily supportive. Management strategies may include:

• Skin care: Use of emollients and moisturizers to manage dry skin and prevent cracking.
• Temperature regulation: Measures to prevent overheating due to hypohidrosis.
• Dental care: Regular dental check-ups and treatments to address dental anomalies.
• Nail care: Management of nail dystrophy to prevent infections and other complications.

Prognosis

The prognosis for individuals with Naegeli–Franceschetti–Jadassohn syndrome varies. While the condition can cause significant discomfort and complications, it is not typically life-threatening. With appropriate management, individuals can lead relatively normal lives.

Related Pages

• Genetic disorder
• Autosomal dominant
• KRT14
• Reticulate pigmentation
• Hypohidrosis
• Palmoplantar keratoderma
• Dental anomalies
• Nail dystrophy

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