Jangili Bindu, Jampanapalli Sharada Reddy, Patloth Tarasingh, Gudipati Mythreyi
Department of Pedodontics and Preventive Dentistry, Government Dental College and Hospital, Hyderabad, Telangana, India.
Int J Clin Pediatr Dent. 2025 Apr;18(4):461-465. doi: 10.5005/jp-journals-10005-3110. Epub 2025 May 19.
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 () 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, . Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. Int J Clin Pediatr Dent 2025;18(4):461-465.
报告一例内格利-弗朗切斯科蒂-雅达松综合征（NFJS）病例及其多学科团队的诊断和管理方法。
NFJS是一种罕见的遗传性皮肤病，发病率为200万至400万分之一。导致这种常染色体显性疾病的角蛋白14（）基因突变会导致角质形成细胞活动异常。多种皮肤症状是其特征。临床上，NFJS表现为掌跖角化病、色素减退和色素沉着斑、皮肤纹理缺失以及无汗。患者除皮肤症状外还可能有许多口腔问题。
一名10岁男童因乳牙滞留和牙龈出血前来就诊。询问面部皮肤色素沉着情况时发现，其在6个月大时开始出现色素沉着，最初出现在手部和腿部，后来扩展至面部和躯干区域。皮肤检查显示全身有网状皮肤色素沉着、手掌和脚底中度增厚、皮肤纹理缺失、指甲营养不良以及拇趾排列不齐。口腔检查显示牙龈红肿、几颗龋齿和牙齿缺失。
根据临床特征、影像学特征和组织病理学报告，该病例被诊断为NFJS。
对于NFJS综合征，多学科方法对于准确诊断和提供全面的患者护理以提高生活质量至关重要。支持性护理是主要重点，重点是治疗皮肤症状和相关的牙齿问题。早期诊断有助于获得更好的预后。
Jangili B, Jampanapalli SR, Patloth T, 。内格利-弗朗切斯科蒂-雅达松综合征：一例报告。《国际临床儿科牙科学杂志》2025；18(4):461 - 465。
