What is Franceschetti-Jadassohn Syndrome & How is it Treated?

Franceschetti-Jadassohn Syndrome or Naegel Franceschetti-Jadassohn Syndrome (NFJS) 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. It is an autosomal dominant genetic disorder where there is a genetic mutation in gene coding of keratin 14 protein.

• 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 is one of the symptoms of Franceschetti-Jadassohn syndrome.
• 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 is also one of the symptoms of Franceschetti-Jadassohn syndrome.
• Absence of fingerprint lines on fingers
• Nail dystrophy
• Some affected individuals show loss of hair on the scalp, eyebrows and underarms as well.

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.

Generally, an individual with Franceschetti-Jadassohn Syndrome has normal intelligence and good health. Hence, the overall prognosis is good. However, the reticulate pigmentation, loss of sweat glands and severely damaged teeth can cause problems.

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.

The chromosome 17q11.2-q21 locus contains gene KRT14 which encodes protein keratin 14. Keratins are tough fibrous proteins that provide strength to the outer layer of the skin. It is said to play a role in the formation of sweat glands and development of fingerprints too. The genetic defect or mutation in this gene leads to alteration in normal development and structure of keratin. This affects skin and nail development. However, a number of queries such as the problems with sweat production and defective colour of the skin need to be elucidated.

It is observed that people with Naegeli Franceschetti-Jadassohn (NFJ) syndrome have reduced or absence of sweating. Hence, mild exposure to heat and exercise may cause collapse, flushing, and dizziness in such individuals.

• Most of the symptoms are evident enough; hence this disease gets diagnosed early in life. The lack of fingerprints can be easily examined.
• Skin biopsy is performed to check the status of the absent or poorly formed sweat glands.
• Genetic testing is performed to check the genetic mutations of keratin genes.

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.

There is no known treatment for Franceschetti-Jadassohn syndrome. Hence certain precautions need to be taken such as:

• The exposure to heat should be kept to minimum. Also, one should do minimum physical activities and must engage in low impact activities. One should also use appropriate clothing and should use physical cooling with cool water during warm periods.
• Individuals suffering from Franceschetti-Jadassohn syndrome should maintain oral hygiene and brush their teeth at least twice a day.
• 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 in patients with Franceschetti-Jadassohn syndrome.

Franceschetti-Jadassohn syndrome is a rare genetic syndrome which affects the skin, teeth and nails. This affects the self-confidence of an individual. Due to the condition being very less prevalent in the population, there are not much research studies conducted to understand its underlying pathophysiology. Thus more research studies need to be conducted with an aim for better treatment strategies.

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