Definition

What is Naegel Franceschetti-Jadassohn syndrome?

Naegel Franceschetti-Jadassohn syndrome (NFJS) or Franceschetti-Jadassohn Syndrome was first described in 1927 by Naegeli in a Swiss family and was further analyzed by Franceschetti-Jadassohn in 1953. Hence, the syndrome is named as name Naegeli Franceschetti-Jadassohn syndrome. It is a recticulate pigmentary disorder.

Franceschetti-Jadassohn syndrome is also known as Dermatopathia Pigmentosa Recticularis. It is a rare type of ectodermal dysplasia which affects the skin, sweat glands, nails and teeth. Franceschetti-Jadassohn syndrome is characterized by presence of net like reticular skin pigmentation and absence of fingerprint lines on fingers.

How common is Naegel Franceschetti-Jadassohn syndrome?

Franceschetti-Jadassohn syndrome is a rare disorder with a global incidence of 1 in 3 million people. Very few affected families have been reported in the literature. Franceschetti-Jadassohn syndrome affects males and females equally. It occurs in the early years of life. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Naegel Franceschetti-Jadassohn syndrome?

The common symptoms of Naegel Franceschetti-Jadassohn syndrome are:

  • Reticular skin pigmentation. A net like pattern of dark brown or gray skin coloring called as reticulate hyperpigmentation. The dark pigmentation is observed most often on neck, chest and abdomen and around the eyes and mouth. It appears early in childhood and may persist or fade with age.
  • Skin blistering.
  • Abnormal sweating (either there is diminished or lack of function of the sweat glands). It causes discomfort during excessive heat.
  • Absence of teeth
  • Hyperkeratosis of the palms and soles.
  • Absence of fingerprint lines on fingers
  • Nail dystrophy.
  • Loss of hair on the scalp, eyebrows and underarms.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Naegel Franceschetti-Jadassohn syndrome?

Franceschetti-Jadassohn syndrome is a genetic disorder. It is caused by mutation of the gene keratin 14 located on chromosome 17q11.2-q21. It is inherited in autosomal dominant manner, that is only one copy of this gene when passed from one of the parents is sufficient to cause Franceschetti-Jadassohn syndrome in the offspring. However, some cases of Franceschetti-Jadassohn syndrome may develop due to random occurrence.

Risk factors

What increases my risk for Naegel Franceschetti-Jadassohn syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Naegel Franceschetti-Jadassohn syndrome diagnosed?

In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The diagnosis may be confirmed by genetic testing of the KRT14 gene.

There is similarity in symptoms between different ectodermal dysplasias and Franceschetti-Jadassohn syndrome. Hence, differential diagnosis is done which includes differentiating between incontinentia pigmenti, dermatopathia pigmentosa reticularis, dyskeratosis congenita, pachyonychia congenital, Dowling-Degos disease and Franceschetti-Jadassohn syndrome.

How is Naegel Franceschetti-Jadassohn syndrome treated?

There is no absolute cure for Franceschetti-Jadassohn syndrome. Treatment for Naegeli syndrome is based on an individual’s symptoms.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Naegel Franceschetti-Jadassohn syndrome?

The following lifestyles and home remedies might help you cope with Naegel Franceschetti-Jadassohn syndrome:

  • Exposure to heat should be limited. To avoid overheating, affected individuals should stay hydrated, wear appropriate clothing, and use wet dressings.
  • Individuals suffering from Franceschetti-Jadassohn syndrome should maintain oral hygiene and brush their teeth at least twice a day.Dental care is needed to treat cavities and tooth loss.
  • Dry skin must be moisturized with emollients.
  • Application of dermatological creams containing retinoic acid and keratolytics to the palms of hands and soles of feet may help to prevent thickening of the skin.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 9, 2018 | Last Modified: February 9, 2018

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