Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report.

Abstract

Aim: A case of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and its multidisciplinary team approach for diagnosis and management are reported.

Background: The incidence of NFJS, a rare genodermatosis, is 1 in 2-4 million. The keratin 14 (KRT14) gene mutations that cause this autosomal dominant condition result in abnormal keratinocyte activity. A variety of cutaneous symptoms are its defining characteristics. Clinically, NFJS manifests as palmoplantar keratoderma, hypo- and hyperpigmented macules, lack of dermatoglyphics, and lack of sweating. Patients may have many oral problems in addition to dermatological symptoms.

Case description: A 10-year-old male child reported with retained teeth and bleeding gums. Inquiries about the hyperpigmentation of the facial skin revealed a history of onset of pigmentation at the age of 6 months, which was initially noticed on the hands and legs, and later extended to the face and trunk region. Cutaneous examination showed reticular cutaneous pigmentation all over the body, moderate thickening of the palms and soles, absence of dermatoglyphics, nail dystrophy, and malalignment of the great toe. Intraoral examination showed erythematous gingiva, several carious teeth, and missing teeth.

Conclusion: Based on clinical features, radiographic features, and histopathological report, the case was diagnosed as NFJS.

Clinical significance: A multidisciplinary approach is crucial for NFJS syndrome in order to provide an accurate diagnosis and all-encompassing patient care that enhances quality of life. Supportive care is the main focus, with an emphasis on treating the cutaneous symptoms and related dental problems. A better prognosis depends on early diagnosis.

How to cite this article: Jangili B, Jampanapalli SR, Patloth T, et al. Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. Int J Clin Pediatr Dent 2025;18(4):461-465.