We report the case of an 11-year-old female who presented with a progressively enlarging cystic neck swelling. CT demonstrated a multiloculated cystic lesion involving the right cervical soft tissue planes, suggestive of a cystic lymphangioma. There was no significant family history or clinical evidence of neurofibromatosis type 1 (NF1) at presentation. Surgical excision was performed, and histopathological examination with S100 immunohistochemistry confirmed the diagnosis of plexiform neurofibroma. At the one-year follow-up, the patient developed multiple café-au-lait macules and Lisch nodules of the iris, fulfilling the diagnostic criteria for NF1. The delayed appearance of these characteristic features established the diagnosis of evolving sporadic NF1. This case highlights that an isolated plexiform neurofibroma may be the initial manifestation of NF1 and can clinically and radiologically mimic other cervical soft tissue lesions. Careful long-term clinical, dermatological, and ophthalmological follow-up is essential for the timely recognition of additional diagnostic features and appropriate surveillance.

BACKGROUND Neurofibromatosis type 1 (NF1) and Marfan syndrome (MFS) are genetically determined systemic disorders. Their simultaneous occurrence is exceptionally rare, with only a few cases reported in the literature. CASE REPORT A 13-year-old boy was admitted to a cardiology clinic due to mitral and tricuspid valve prolapse. He was tall, with severe scoliosis and distinctive dysmorphic features typical of MFS. More than 20 cafe-au-lait spots, characteristic of NF1, were present on his skin. The family history included NF1 in his twin brother, mother, maternal uncle, and maternal grandmother. The maternal uncle also exhibited phenotypic features of MFS and died at a young age from a suspected ruptured intracranial aneurysm. Genetic testing in our patient revealed an NF1 mutation, as well as a 16p13.11 microduplication that could explain his developmental delay and speech difficulties. The diagnosis of MFS was based on characteristic dysmorphic features and the presence of aortic root dilation, despite negative findings concerning the fibrillin-1 (FBN1) mutation typically associated with MFS. CONCLUSIONS A thorough assessment of physical features is essential to detect atypical phenotypes and recognize potential coexistence of multiple genetic syndromes. This case highlights the clinical importance of systematic cardiac evaluation, given that cardiac abnormalities typical of MFS may be critical for its recognition. Reporting such an unusual coexistence of NF1 and MFS underscores the need for multidisciplinary care to improve long-term outcomes in patients with overlapping genetic disorders.

Neurofibromatosis type 1 (NF1) is the most prevalent neurocutaneous syndrome, affecting approximately 1 in 3000 individuals. This genetic disorder involves multiple organ systems and exhibits marked variability in clinical presentation, with characteristic cutaneous, ophthalmological, neurological, cardiovascular, skeletal, and neurodevelopmental features. It may also be associated with multiple neoplasms. Timely and accurate diagnosis is essential to ensure optimal patient care. A lifelong, multidisciplinary management approach is recommended. The objective of this consensus is to summarize the clinical manifestations and provide evidence-based recommendations for the diagnosis and management of NF1.

Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the NF1 gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.

Background/Objectives: Minor physical anomalies (MPAs) are subtle morphological markers of disrupted neuroectodermal development occurring during early gestation. Their increased prevalence has been reported in several neurodevelopmental and psychiatric conditions, including schizophrenia. However, data on MPAs in pediatric psychosis remain limited. This exploratory descriptive study aimed to characterize the occurrence of MPAs and congenital malformations in children presenting with early-onset psychotic symptoms and to illustrate the clinical heterogeneity through two representative cases. Methods: All participants underwent a comprehensive head-to-toe examination by a trained child and adolescent psychiatrist to identify MPAs. Key anatomical regions, including the face, hair vortex, palate, and extremities, were systematically photographed. Results were corroborated by MRI brain screening and consulted with a clinical geneticist. Anomalies were classified using the standardized Elements of Morphology terminology. Results: Among the 19 study participants, seven (37%) were diagnosed with very early-onset schizophrenia (VEOS). Identified minor physical anomalies included epicanthus (n = 5), café au lait spots (n = 2), and discoloured spots (n = 1). Furthermore, major congenital malformations were detected, specifically Arnold-Chiari malformation type I (n = 1), incomplete hippocampal inversion (n = 1), and a temporal cortex malformation (n = 1). Conclusions: MPAs and selected neuroanatomical anomalies were observed in a subset of children with early-onset psychotic symptoms. While the small sample size and absence of a control group limit interpretability, these exploratory findings suggest that systematic physical examination may provide supportive clinical information in the assessment of pediatric psychosis. Larger, controlled studies are needed to clarify whether specific MPAs may serve as early markers of neurodevelopmental vulnerability.

Café-au-lait macules (CALMs) are relatively common in clinical manifestations, mostly present with 1 to 3. Multiple CALMs are unusual and may reveal underlying hereditary diseases. This article summarizes clinical features and diagnostic criteria of some CALMs-related syndromes, aiming at enhancing clinicians' awareness of CALMs, improving the early diagnosis and intervention, and reducing or preventing the occurrence of severe complications.