Inverted sinonasal papilloma (ISP) and respiratory epithelial adenomatoid hamartoma (REAH) are sinonasal lesions with overlapping clinical, radiographic, and histologic features, making accurate diagnosis challenging. ISP is a benign but aggressive tumor with a propensity for local destruction, recurrence, and malignant transformation, whereas REAH is a hamartomatous lesion often arising in the olfactory cleft. We present four patients with lesions initially suspected to be ISP based on intraoperative frozen section but ultimately diagnosed as REAH on permanent pathology. All patients had polypoid sinonasal masses, frequently involving or adjacent to the olfactory cleft. Intraoperative frozen sections were often inconclusive or favored ISP, reflecting the difficulty of distinguishing these entities. Histologic analysis revealed that epithelial thickness served as a key morphologic feature differentiating ISP from REAH, with REAH exhibiting ciliated glandular proliferation and ISP characterized by hyperplastic epithelium with features of columnar and squamous differentiation. These patients underscore the diagnostic pitfalls of small biopsies and frozen sections, and highlight the importance of permanent specimens and collaboration with experienced pathologists. Accurate differentiation is critical, as management strategies differ substantially: ISP requires aggressive resection and long-term surveillance, while REAH may be treated with limited excision and minimal follow-up.

Unilateral Retinal Pigment Epithelium Dysgenesis-The Expanded Spectrum and New Insights From Multimodal Imaging.

Cowden syndrome (CS) is a rare autosomal-dominant inherited variant of PTEN (phosphatase and tensin homolog gene) hamartoma tumor syndrome caused by mutations to the PTEN tumor suppressor gene, leading to activation of the PI3K/AKT/mTOR intracellular signaling pathway. Patients with this syndrome present with multisystem hamartomatous lesions and are particularly predisposed to developing malignancies, including breast, thyroid, renal, endometrial, and colorectal malignancies. Mucocutaneous lesions, especially trichilemmomas, and macrocephaly are commonly seen in the 2nd decade of life and usually manifest before the development of malignancies. In children, clinical manifestations such as intellectual disability and gastrointestinal polyps may arise and may prompt early investigation and diagnosis. Major features of CS include Lhermitte-Duclos disease, breast cancer, endometrial cancer, thyroid carcinoma, macrocephaly, and gastrointestinal hamartomas. Other features that are considered part of the minor clinical diagnostic criteria include colorectal cancer, esophageal glycogenic acanthosis, lipomas, renal cell carcinoma, testicular lipomatosis, and vascular anomalies. Comprehensive evaluation including clinical and genetic assessment and imaging is essential for early diagnosis and management. Given the increased risk of developing malignancies, surveillance strategies have been routinely updated and recommended by the National Comprehensive Cancer Network. Important cancer surveillance imaging strategies include mammography, MRI of the breast, and US of the thyroid and kidneys, although other manifestations are routinely assessed with CT and MRI. In this article, the genetics and molecular pathogenesis, clinical manifestations, imaging features, and most up-to-date surveillance recommendations of CS are reviewed. ©RSNA, 2026 Supplemental material is available for this article.

Giant nevus cutaneous lipomatosus superficialis: A case report

Hamartomas are well-recognized benign growths associated with tuberous sclerosis complex (TSC), occurring frequently in the skin, central nervous system, and kidneys. Although musculoskeletal manifestations have been documented, intra-articular hamartomas originating specifically from the joint capsule have not been previously reported to the best of our knowledge. We present a unique case involving a 9-year-old female with genetically confirmed TSC who exhibited multiple intra-articular hamartomatous lesions originating from the joint capsules of the hip and knee. These lesions were distinctly visible on magnetic resonance imaging (MRI), displaying signal characteristics consistent with hamartomas, and they were confirmed by histopathological analysis. This underscores the importance of considering capsular hamartomas in the differential diagnosis of intra-articular masses in TSC and highlights the diagnostic value of MRI in identifying such rare manifestations.

Objectives: Intraosseous vascular lesions of the mandible are uncommon and often difficult to diagnose. This report presents the clinical, radiographic, and histopathological findings of such a lesion in an elderly patient with a history of Kaposi sarcoma, emphasizing diagnostic challenges and management considerations. Case Report: A 73-year-old male with a medical history of Kaposi sarcoma was referred for evaluation of an edentulous mandible. Panoramic radiography and cone-beam computed tomography (CBCT) revealed a well-defined hypodense lesion adjacent to the mandibular canal, measuring 41 × 19 × 11 mm. The lesion demonstrated cortical thinning without expansion or perforation. An incisional biopsy revealed vascular lumens, and the final diagnosis was a hamartomatous vascular lesion. Considering the patient’s advanced age and medical condition, conservative management with regular clinical and radiographic follow-up was chosen. Conclusion: Although intraosseous vascular lesions of the mandible are rare, they should be included in the differential diagnosis of radiolucent jaw lesions. Radiographic and histopathological evaluations play a crucial role in diagnosis. In medically compromised or elderly patients, conservative management with close monitoring can be a suitable treatment option.

Nevus Lipomatosus Superficialis (NLS) is an uncommon benign hamartomatous lesion characterized by ectopic adipose tissue within the dermis. Accurate diagnosis relies on histopathology, as clinical features may overlap with other common benign cutaneous tumours having fibrous and adipose tissues. We report a case of a 60-year-old male who presented with a longstanding, asymptomatic, soft, skin-covered polypoid mass over the lower back. The lesion, present for fifty years had progressively enlarged in size over several years without associated pain or ulceration. Clinical examination revealed a soft, cerebriform mass with a wrinkled surface. Histopathological analysis demonstrated mature adipocytes embedded within the collagenous dermis, confirming the diagnosis of NLS. This case highlights the importance of considering NLS in the differential diagnosis of soft, cutaneous lesions in adults. Recognition of this entity is critical to prevent misinterpretation. Complete surgical excision remains the treatment of choice and has an excellent prognosis with low recurrence rates. International Journal of Human and Health Sciences Vol. 09 No. 04 Oct’25 Page: 265-268

Abstract Tuberous sclerosis (TS) is a rare systemic autosomal-dominant genetic disease in which multiple hamartomatous lesions occur in many organs and tissues. Kidney involvement of TS usually includes angiomyolipomas, cysts, rarely kidney tumors, but there is not much description of other kidney involvement (proteinuria, hematuria, advanced kidney failure). We present a patient with preterminal renal failure who is diagnosed with tuberous sclerosis. A 52-year-old female was admitted to the hospital, due to decreased kidney function with worsening of the general condition and crises of consciousness. During the examination, cutaneous lesions -facial angiofibrolipomas were noticed, the patient was dehydrated and pale. Laboratory analyzes showed elevated parameters of nonspecific inflammation, anemic syndrome, azotemia (Cr 578umol / l, urea 50.1mmol / l, CKD e GFR 10 ml / min / 73m 2 ), leukocyturia, microerythrocyturia, proteinuria 1.5 g / 24h. MSCT of the abdomen indicated hemangiomas of the liver, enlarged kidneys with several hypodense and hyperdense changes - angiomyolipomas. Due to the crisis of consciousness, MSCT of the head was performed, on which cysts and calcifications of the brain were observed. During the treatment, there was a confusing state, agitation, and epilepsy seizure. MRI brain showed multi locular brain cysts with ependymal and subependymal calcified nodules in the lateral ventricles.The applied treatment resulted in a partial recovery of kidney function (CKDeGFR 17 mil / min / 1.73 m 2 , and further approach in the monitoring and treatment of this patient was multidisciplinary. Chronic renal failure of 4 stages was maintained for a further six-month followup. We underline the importance of a multidisciplinary approach in the treatment of patients, bearing in mind that, as in our patient, a rare genetic disease - tuberous sclerosis can be manifested by kidney failure of preterminal rank.

Oral hamartoma is a benign developmental malformation of tissue native to the oral cavity, most often detected in childhood, and managed effectively with surgery if needed. Gingival hamartomas are rare benign proliferations of disorganized local tissue. Few cases are reported in pediatric patients, particularly associated with primary teeth. A 7 years-old male patient reported with a swelling which was well defined, reddish in colour and 8mm x 5mm when measured over the buccal mucosa extending from the mesial aspect of tooth number 53 up to mesial aspect of tooth number 55. Surgical excision was carried out and sent for histopathological examination. It revealed hamartomatous lesion predominantly vascular with pronounced secondary changes including ulceration, haemorrhage and infection. Head and neck hamartomas have shown that these benign entities may expand and recur, and chronic inflammation may heighten the risk of malignant transformation. Early diagnosis and management are needed.

ABSTRACTThe term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others. Mosaic skin abnormalities can present under a segmental pattern or as nonsegmental skin lesions. Nonsegmental mosaicism, which is most common, includes individual point lesions, tumours, hamartomatous lesions, or malformations, such as melanocytic nevi, Spitz tumours, and sporadic trichoepitheliomas. In some autosomal dominant genodermatoses with multiple skin lesions, a nonsegmental disseminated mosaicism emerges, often associated with neurological or multi‐organ involvement. A patchy skin involvement without midline separation is frequently observed in congenital melanocytic nevi. Segmental mosaicism is less common and presents as asymmetric cutaneous lesions in one or more separate body areas, respecting the body's midline. While the precise mechanisms remain uncertain, these segments possibly reflect clonal expansion of cells during prenatal development. In this article, we provide an overview of the types of mosaicism, discussing their patterns, clinical manifestations, and the varying degrees of severity associated with these conditions.

Radiation-induced cerebral cavernous malformations.

SummaryBackgroundEcchordosis physaliphora (EP) is a benign hamartomatous lesion, most commonly found in a retroclival position, as an incidental radiological finding. EP may become symptomatic, by creating a clival defect, leading to CSF leak and meningitis, thus requiring surgical treatment.MethodsRetrospective case series.ResultsWe present 5 cases of retroclival EP (4 males, 1 female; age range, 34-81 years) presenting in our department over the last 6 years. Four patients presented with CSF leak; 3 also had a history of bacterial meningitis, while one was diagnosed with meningitis on presentation. One patient was and remains asymptomatic 28 months later with the lesion being an incidental finding. The EP was treated in all 4 symptomatic patients with removal of the lesion and reconstruction of the defect with an endoscopic endonasal transclival approach (EETTA). All 4 patients remain free of symptoms while the lesion has not recurred for 81, 72, 52, and 22 months, respectively.ConclusionsA review of the literature depicts that there is a shift from transcranial approaches to the EETTA for treating retroclival EP. The present case series highlights that EETTA facilitates the complete excision of EP lesions, as well the reconstruction of the resulting defects, with minimal morbidity and hospitalisation.

An odontogenic keratocyst (OKC) is a noninflammatory developmental cystic lesion of odontogenic origin that tends to penetrate the bone and nearby soft tissues. It also exhibits aggressive clinical behavior and a high recurrence rate. Odontomas are hamartomatous lesions occurring in the oral cavity, which may be either compound or complex, composed of enamel, dentin, and pulp, which resemble a normal tooth. They constitute about 22% of all odontogenic tumors of the jaw. We report a rare instance of a 17-year-old male patient, who was tentatively diagnosed with an odontogenic lesion. The patient complained of facial swelling and pain on the left side of his face for a month and had a histologic diagnosis of OKC associated with an impacted left mandibular lateral incisor and compound odontome. Not many cases of this type are reported in the literature. There is a need to explore the occurrence of such hybrid lesions.

The classification of mixed odontogenic tumors-specifically ameloblastic fibroma (AF), ameloblastic fibro-odontoma (AFO), and odontoma-remains controversial. The current WHO classification emphasizes the presence of dental hard tissues but overlooks the distinction between aberrant inductive activity and maturation resembling normal odontogenesis. This has led to diagnostic ambiguity and inconsistent management strategies. This study aims to propose a biologically grounded reclassification based on histological, developmental, and molecular criteria. We conducted a conceptual reassessment of AF, AFO, and odontoma, using six cases from our pathology archives. Histological slides were reviewed with focus on the type and organization of mineralized tissue (tubular dentin, osteodentine, enamel) and its epithelial-mesenchymal context. Clinical and radiological data were evaluated, and BRAF V600E mutation status was retrieved when available. A targeted literature review was performed to integrate findings on histology, genetic alterations, and malignant transformation risk. Two distinct lesion types were identified: (1) Ameloblastic fibroma with aberrant inductive activity, showing irregular osteodentine and enameloid deposits without odontoblast differentiation, harboring BRAF mutations; and (2) odontomas, characterized by mature tubular dentin and enamel formation, indicating a hamartomatous nature, despite significant clinical growth. Historical descriptions support this biological dichotomy, emphasizing the difference between aberrant inductive activity and processes resembling normal odontogenesis. We propose abandoning AFO as a distinct diagnostic entity. Instead, lesions could be classified based on the presence of organized, mature dental hard tissues. AF with aberrant inductive activity represents a benign neoplasm with low malignant potential, while odontoma is a hamartomatous lesion sometimes with large growth capacity but no malignant risk. This binary classification would align histological criteria with biological behavior, integrate molecular data, and restore diagnostic clarity. The validity of this framework should be investigated in future cohorts.

We present the case of a 56-year-old woman with a congenital yellowish lesion on her scalp that had remained stable until approximately 18 months before evaluation.During this period, she noted the appearance of new growths on the lesion, which exhibited progressive enlargement and occasional spontaneous bleeding.On physical examination, a sessile, yellowbrown, verrucous plaque with well-defined, irregular borders, measuring approximately 4 1.5 cm, was observed on the interparietal scalp (Fig. 1).At the anterior margin of the plaque, a violaceous nodule with macroscopic telangiectasias, measuring approximately 1.5 cm in its greatest dimension, was identified (Fig. 1).Posterior to this, an 8-mm violaceous papule with similar features was noted (Fig. 1).Dermoscopy revealed telangiectasias and a bluish coloration (Fig. 2).Surgical excision of both lesions was performed, and histopathological examination confirmed basal cell carcinoma (BCC) arising within a nevus sebaceous, with clear surgical margins.Nevus sebaceous, also known as nevus sebaceous of Jadassohn, is a hamartomatous lesion originating from follicular, sebaceous, apocrine, and connective tissue components 1,2 .These lesions typically present at birth or in early childhood, often as yellow to orange patches or plaques with associated alopecia 1 .While the scalp is the most common site, nevus sebaceous can also occur on the face, neck, and other regions 1 .

Odontomas are hamartomatous lesions consisting of enamel, dentin, cementum, and pulp tissue. They are slow-growing, benign tumors showing nonaggressive behavior. They can be divided into compound odontomas (CpODs) and complex odontomas (CxODs) according to the level of organization of the tissues. The radiological diagnosis of CpODs is easy due to the presence of characteristic tooth-like structures. The incidence of these hamartomatous lesions is higher in children. The majority of odontomas are asymptomatic; however, these lesions can cause impaction, delayed eruption, or even retention of deciduous teeth. Usually, they are discovered during routine radiography. This case report aims to present the clinical and radiological findings of a rarely observed CpOD in a 9-year-old boy, along with its treatment. The lesion diagnosed in the maxillary anterior region was excised under local anesthesia. In the ongoing follow-up of the patient, no anomalies were detected.

Lhermitte-Duclos disease (LDD) is a rare dysplastic gangliocytoma of the cerebellum, typically manifesting as a hamartomatous lesion in the posterior fossa. Currently, LDD has been only linked to PTEN pathogenic variants, with the PI3K/AKT/mTOR pathway acting as the primary signaling cascade responsible for its pathogenesis. We present a case of LDD in which a novel germline heterozygous splice site variant (c.183-2A > G) in the SUFU gene and a somatic heterozygous missense variant (c.389 G > A) in the PTEN gene, identified from tumor tissue were detected by targeted next-generation sequencing (NGS). SUFU, a tumor suppressor gene, primarily inhibits the hedgehog (Hh) signaling pathway and furthermore influences the AKT/mTOR pathway. Pathogenic variants in SUFU have been linked to medulloblastoma, and their potential role in LDD remains under investigation. Given that both conditions involve granule cell progenitors and are influenced by impaired Hh signaling, they may share a similar developmental path. This is the first research indicating that SUFU may play a role in the etiology of LDD, despite SUFU variants being associated with several central nervous system malignancies. The SUFU variant was shown to disrupt splicing via Sanger sequencing and gel electrophoresis of RNA extracted from blood. Analysis of DNA from tumor tissue using the TWIST Exome 2.0 Panel revealed de novo pathogenic SUFU (c.183-2A > G) and PTEN (c.389G > A) variants. This paper establishes an initial link between LDD and germline SUFU along with somatic PTEN variants identified from tumor tissue, providing novel insights into the molecular pathogenesis of this rare condition.

Rare hamartomatous lesion in the inframammaryregion.

Odontomas are currently classified as benign mixed epithelial/mesenchymal odontogenic neoplasms which are located within the tooth-bearing regions of the jaws. Despite being considered neoplasms, the clinical characteristics of these lesions are much the same as hamartomatous lesions. Peripheral odontomas are rare entities that are located entirely within the adjacent soft tissue of the mucosa and/or gingiva. Apart from location, peripheral odontomas are morphologically, radiologically and pathologically indistinguishable from their intraosseous counterparts.

Cowden syndrome (CS) is a rare autosomal dominant (AD) disorder first identified in 1963, also known as multiple hamartoma syndrome due to the presence of numerous hamartomatous lesions on mucous membranes and skin. We present a case involving a 48-year-old male patient from our oral and maxillofacial surgery department. On clinical examination, multiple fibrous papillomas were observed in the oral cavity. On further examination of macrocephaly, pectus deformity of the chest and multiple papillomas on the face and neck were revealed, raising suspicion of any underlying syndrome, due to this suspicion we recommend diagnostic tests such as biopsy, ultrasound, and endoscopy. On the basis of reports and diagnostic criteria, we confirmed the diagnosis of CS. CS is associated with an increased risk of several cancers, such as breast and thyroid carcinoma, regular monitoring is essential for early cancer detection and prompt treatment with better prognosis. Key Words: Cowden syndrome; Hamartoma.