Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder caused by mutations in the NF1 gene and is commonly associated with ocular manifestations such as Lisch nodules, optic pathway gliomas, and choroidal abnormalities. Retinal structural changes are rarely reported. The authors describe a 3-year-old girl with NF1 who presented with decreased vision in her left eye. Ophthalmic imaging revealed an epiretinal fibrovascular membrane with vitreoretinal traction, cystic macular changes, and localized tractional retinal detachment (TRD) with a retinal tear. RetCam (Clarity Medical Sysetms, Inc) imaging and fluorescein angiography demonstrated vitreous opacities, fibrovascular adhesions, and vascular leakage. Systemic examination identified multiple café-au-lait spots and a plexiform neurofibroma confirmed by histopathology. The patient underwent pars plana vitrectomy with membrane removal and silicone oil tamponade, resulting in stable retinal attachment during follow-up. This case expands the spectrum of retinal manifestations associated with NF1 and highlights the importance of regular ophthalmic surveillance in affected children.

McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia (FD), café-au-lait spots, and hyperfunctioning endocrinopathies. FD lesions can overproduce fibroblast growth factor-23 (FGF-23), leading to renal phosphate wasting, hypophosphatemia, and impaired bone mineralization. Conventional treatment with oral phosphate and calcitriol is limited by gastrointestinal intolerance. Burosumab, a monoclonal antibody against FGF-23, is approved for X-linked hypophosphatemia and tumor-induced osteomalacia and has shown promise in case reports of pediatric and adult patients with MAS-related FGF-23-mediated hypophosphatemia. We describe a 46-year-old woman with MAS and extensive FD who presented with worsening bone pain and FGF-23-mediated hypophosphatemia. She was started on phosphate and calcitriol with improvement in pain. Due to failure to achieve treatment targets, she was transitioned to burosumab 0.50 mg/kg injections every 4 weeks with normalization of serum phosphorus but persistent elevation of alkaline phosphatase. This case represents the second reported adult and oldest patient treated with burosumab for MAS-related FGF-23-mediated hypophosphatemia after failure of conventional therapy. Although its use in MAS remains off-label, burosumab may provide a more targeted and better-tolerated therapeutic option.

Objective: To summarize the characteristics and prognosis of infantile cholestasis caused by McCune-Albright syndrome (MAS). Methods: A case series study was conducted. Clinical data was collected and analyzed from four infantile cholestasis cases caused by MAS at Pediatric Liver Center, Children's Hospital of Fudan University from February 2016 to October 2025. Descriptive analysis was performed on their clinical characteristics, biochemical examinations, liver ultrasound, liver histopathology, genetic testing, treatment, and prognosis. Results: Among the 4 children (2 males and 2 females), the age of onset was the neonatal period, and presented with jaundice as the initial symptom. Three cases (case 1-3) had pale stools. Mild hepatomegaly was present in all patients. Biochemical examinations revealed elevated gamma-glutamyl transferase (GGT) levels, which were 124, 128, 78, and 258 U/L, accompanied by severely elevated alanine aminotransferase and aspartate aminotransferase levels, with peak values of 2 312 and 1 742 U/L. Liver histology in case 1 and case 3 at 2 months of age showed cholestasis, fibrous tissue hyperplasia, separation of lobules of liver, mild bile ducts hyperplasiamild. Follow-up liver histopathology in case 1 at 1.3 years of age revealed significant improvement in inflammation and fibrosis. Liver histopathology in case 4 at 3.2 years of age showed mild cholestasis, mild inflammation in the portal areas and reduced number of intrahepatic bile ducts. While the cholestasis subsided spontaneously by approximately 8 months of age, liver transaminase abnormalities could last for several years, and only 1 case (case 3) returned to normal after 1.9 years. Café-au-lait spots were present at birth in 3 cases (case 1, 3, 4) and appeared at 2 months of age in 1 case (case 2). Precocious puberty and bony abnormality occurred later than the onset of cholestasis. The results of whole exon sequencing of blood samples from all the four cases were negative, whereas GNAS variant was identified in the liver tissue of case 4. Conclusions: MAS can involve the liver. In infancy, it can present as high-GGT cholestasis accompanied by severely elevated transaminases. Although jaundice may resolve spontaneously in infants, abnormal transaminase levels can persist. Detection of GNAS variants in liver tissue may facilitate early diagnosis.

Endodermal cysts (ECs) are rare benign cystic lesions of the central nervous system. Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neural tumors, but co-occurrence with EC is exceedingly uncommon. We report the case of a 29-year-old male with NF1, characterized by café-au-lait spots and a family history, who presented with headache and left upper limb deficits following minor head trauma. Imaging revealed a posterior fossa tumor. Due to progressive neurological decline, the mass was surgically resected. Intraoperative findings showed a yellowish-white, jelly-like accumulation. Pathological examination confirmed the diagnosis of EC, which was characterized by a wall lined with ciliated epithelium, but lacking skin appendages in the cyst wall. This case suggests that ECs should be included in the differential diagnosis of extra-axial tumors in the posterior fossa. Given the rarity of ECs, a potential association with NF1 is suspected in this case, although the causal relationship remains unclear.

Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by benign tumors of the nervous system, typically associated with café-au-lait spots and neurofibromas. Macrodactyly usually is referred to as a rare congenital anomaly with overgrowth of bone and soft tissue. In addition, macrodactyly-like patterns of localized digital overgrowth have been described, including nerve-related segmental overgrowth. We report the case of a 22-year-old woman from northern Tanzania presenting with unilateral macrodactyly-like overgrowth of the non-dominant left hand and clinical features of NF1, including café-au-lait spots and multiple neurofibromas. Surgical excision of redundant soft tissue resulted in an improved hand contour and restoration of the first web space. The postoperative course was uncomplicated with preserved early sensory function; however, meaningful assessment of range of motion and dexterity was not possible due to the limited stay of medical staff until three days postoperatively. Intraoperatively, markedly enlarged digital nerves were observed, and histopathology confirmed a plexiform neurofibroma consistent with NF1‑related nerve‑associated segmental overgrowth rather than classical idiopathic macrodactyly. This rare presentation of NF1 with unilateral macrodactyly-like overgrowth highlights the diagnostic challenge of distinguishing true congenital macrodactyly from NF1-associated nerve-related segmental overgrowth in the absence of modern diagnostic tools. Nevertheless, the case emphasizes the need for further investigation into NF1-associated tissue overgrowth and macrodactyly-like digital enlargement, as well as the role of surgery in improving hand contour, potential function, and quality of life in low-resource settings.

Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen disease, is a multisystemic, hereditary, autosomal dominant condition. It is caused by the development of tumors in the nervous system, resulting from mutations in the NF1 gene located on chromosome 17q11.2. Gastrointestinal involvement is mainly extraperitoneal, with mesentery lesions being the least common. We report a case of an isolated jejunal mesenteric neurofibroma diagnosed by ultrasound and CT scan and confirmed by histopathological examination in a nine-year-old child with diffuse café-au-lait spots who presented with chronic abdominal pain.

Cafe-au-lait macules (CALMs) are common hyperpigmented and flat skin lesions found in the general population. They are usually present at birth (congenital) or occur early in life. They may grow in number and size with age. The color varies from light brown to dark brown, and they may be present on any body parts, but the most common location is the trunk and the extremities. The term cafe-au-lait is a French word meaning "coffee with milk." There are two main types of CALMs. CALMs with regular and clearly demarcated margins ("coast of California"), which is more common. They range in size from a few millimeters to several centimeters (>20cm) and may be present as solitary or multiple spots. The second type of CALM has an irregular margin ("coast of Maine"), which is less common and is usually larger and solitary. The "coast of Maine" pattern is seen in a segmental pigmentary disorder, while the "coast of California" pattern is seen neurofibromatosis 1 (NF1) and related conditions. CALMs are seen in 95% of patients with NF1. Although solitary CALMs are common in the general population and are familial and inherited as autosomal dominant, multiple spots accompanied by other manifestations may indicate an underlying genetic disorder, and they require further evaluation. A family history of CALMs should be evaluated in any patient with multiple CALMs.[1][2]

Plexiform neurofibroma (PNF) is a rare but pathognomonic tumour associated with neurofibromatosis type 1 (NF-1), an autosomal dominant neurocutaneous disorder. Although PNFs can affect various body regions, vulvar involvement is exceptionally uncommon. This report describes a 16-year-old female patient who presented at a dermatology center with a painless, hanging mass on the right labia majora, accompanied by multiple skin café-au-lait spots, freckling, and cutaneous neurofibromas. Clinical evaluation, genetics testing, imaging, and histopathological analysis confirmed a diagnosis of labia majora PNF. Surgical resection was performed twice due to recurrence. Given the psychosocial and functional challenges, including gait limitation, embarrassment, and psychological distress, associated with this rare presentation, a multidisciplinary approach with an individualised management plan and long-term follow-up is essential. This case emphasises the need to raise awareness of vulvar neurofibromas in NF-1 patients to ensure timely diagnosis and intervention.

A 32-year-old man presented with axillary and inguinal freckling, 13 café-au-lait macules (> 15 mm), and multiple neurofibromas, consistent with the clinical diagnosis Neurofibromatosis type 1 (NF1). DNA analysis confirmed this diagnosis by identifying a pathogenic NF1 variant, enabling monitoring for complications, genetic counselling and screening for family members.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare, aggressive sarcomas originating from peripheral nerves or nerve sheath cells. They are often associated with neurofibromatosis type 1 (NF1) and have a poor prognosis due to high rates of recurrence and metastasis. We report a case of a 30-year-old female presenting with a retroperitoneal MPNST accompanied by metastases to the right pelvic wall and left rectus femoris muscle. The patient exhibited numerous café au lait spots densely distributed across the head, neck, trunk, and extremities, consistent with clinical features of NF1. Due to the limitations of gynecological ultrasonography, the mass was initially considered to originate from the adnexal region. Surgical interventions included exploratory laparotomy, partial colectomy, partial rectal resection, retroperitoneal neoplasms resection, and colostomy; however, only palliative resection was possible due to the tumor's extensive invasion and inability to achieve clear margins. Histopathological examination, supported by immunohistochemical findings, confirmed the diagnosis of MPNST. Given the palliative nature of surgery and the short postoperative follow-up, the clinical outcome remains uncertain. This case highlights the diagnostic challenges of retroperitoneal MPNST, particularly in patients with NF1, and underscores the importance of early recognition and multidisciplinary management when curative resection is not achievable.