A case of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and its multidisciplinary team approach for diagnosis and management are reported. 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. 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. Based on clinical features, radiographic features, and histopathological report, the case was diagnosed as NFJS. 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. 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.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS), also known as Naegeli Syndrome, is a rare autosomal dominant ectodermal dysplasia characterized by mutations in the KRT14 gene. These mutations disrupt ectodermal tissue development, leading to diverse clinical manifestations involving the skin, nails, teeth, and sweat glands. A systematic search across PubMed, Google Scholar, European PMC, and Cochrane databases was conducted up to August 2023. Only case reports, case series, and original articles reporting cases were included. This review incorporated 6 case reports, 2 case series, 3 original articles, and 1 editorials, encompassing 33 individuals diagnosed with NFJS. Key clinical features included extensive reticulate hyperpigmentation, palmoplantar keratoderma, and dental anomalies. Rarely reported findings, such as cerebellar fissures and generalized osteopenia, were noted in two cases. Treatment predominantly focused on symptomatic management using topical emollients and antioxidants. NFJS remains a diagnostic challenge due to its rarity and overlap with other pigmentary disorders. This review consolidates current knowledge to aid clinicians in recognizing and managing NFJS. Further research is needed to clarify its pathogenesis and explore targeted treatments. https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=447267, identifier CRD42023447267.

Hereditary reticulate pigmentary disorders include a group of genetic disorders, with netlike pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in diagnosis. Based on a literature search, we propose an easy-to-follow and concise diagnostic algorithm for diagnosis. This algorithm would aid in ordering a definitive genetic test. A thorough data search was done using the PubMed database with the following keywords: ('inherit*' OR 'genetic') AND ('reticulate AND pigment*'). Thereafter, a search for individual diseases was done using the keywords 'Dowling-Degos disease', 'dyschromatosis hereditaria symmetrica', 'acropigmentation of Kitamura', 'dyschromatosis universalis hereditaria', 'Naegeli-Franceschetti-Jadassohn syndrome', 'X-linked reticulate pigmentary disorder' and 'dyskeratosis congenita'. The search included case reports, case series, observational studies, narrative and systematic reviews, and clinical trials. Acquired pigmentary disorders were excluded. In total, 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative reviews (40), case series (23), observational studies (44) and case reports (518). An easy-to-follow clinical diagnostic algorithm was prepared based on age of onset, distribution and other parameters. This algorithm will aid in reaching a provisional diagnosis. Furthermore, this approach will help in the genetic investigations of a case of hereditary reticulate pigmentary disorder.

Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli-Franceschetti-Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.