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 key as name Naegeli Franceschetti - Jadassohn syndrome . It is a recticulate pigmentary disorder .
Overview of Franceschetti-Jadassohn Syndrome
Franceschetti - Jadassohn syndrome is also known as Dermatopathia Pigmentosa Recticularis . It is a rare eccentric of ectodermic dysplasia which affects the skin , lather secretor , nails and teeth . Franceschetti - Jadassohn syndrome is characterise by bearing of final like reticulate skin pigmentation and absence of fingermark lines on fingers . It is an autosomal dominant genetic upset where there is a genetic mutation in gene secret writing of keratin 14 protein .
Symptoms of Franceschetti-Jadassohn Syndrome
Epidemiology of Franceschetti-Jadassohn Syndrome
Franceschetti - Jadassohn syndrome is a rare upset with a spheric relative incidence of 1 in 3 million people . Very few affected families have been reported in the lit . Franceschetti - Jadassohn syndrome affects males and females equally . It occurs in the former years of spirit .
Prognosis of Franceschetti-Jadassohn Syndrome
Generally , an individual with Franceschetti - Jadassohn Syndrome has normal intelligence service and salutary wellness . Hence , the overall prognosis is good . However , the reticulate pigmentation , passing of sweat gland and severely damage teeth can cause problems .
Causes and Risk Factors of Franceschetti-Jadassohn Syndrome
Franceschetti - Jadassohn syndrome is a transmissible disorder . It is due to mutation of the cistron keratin 14 located on chromosome 17q11.2 - q21 . It is inherit in autosomal prevailing manner , that is only one written matter of this gene when give-up the ghost from one of the parents is sufficient to make Franceschetti - Jadassohn syndrome in the offspring . However , some cases of Franceschetti - Jadassohn syndrome may develop due to random natural event .
Pathophysiology of Franceschetti-Jadassohn Syndrome
The chromosome 17q11.2 - q21 locus arrest gene KRT14 which encode protein ceratin 14 . keratin are tough fibrous proteins that bring home the bacon strong suit to the stunned bed of the pelt . It is say to meet a purpose in the formation of sweat glands and development of fingerprints too . The genetical fault or mutation in this cistron leads to revision in normal development and structure of keratin . This affects skin and nail development . However , a number of queries such as the job with effort production and bad colour of the peel postulate to be elucidated .
Complications of Franceschetti-Jadassohn Syndrome
It is observed that people with Naegeli Franceschetti - Jadassohn ( NFJ ) syndrome have reduced or absence seizure of sweating . Hence , mild exposure to heat and employment may cause prostration , level , and dizziness in such individuals .
Diagnosis of Franceschetti-Jadassohn Syndrome
Differential Diagnosis
There is similarity in symptoms between different ectodermal dysplasia and Franceschetti - Jadassohn syndrome . Hence , differential diagnosis is done which includes differentiating betweenincontinentia pigmenti , dermatopathia pigmentosa reticularis , dyskeratosis congenita , pachyonychia innate , Dowling - Degos disease and Franceschetti - Jadassohn syndrome .
How is Franceschetti-Jadassohn Syndrome Treated?
There is no known treatment for Franceschetti - Jadassohn syndrome . Hence certain precaution require to be taken such as :
Franceschetti - Jadassohn syndrome is a uncommon hereditary syndrome which bear upon the skin , tooth and nails . This affects the ego - confidence of an individual . Due to the condition being very less dominant in the population , there are not much inquiry subject conducted to understand its underlying pathophysiology . Thus more enquiry study demand to be conducted with an aim for better treatment strategies .
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