A rectal polyp is found during a routine colonoscopy of a 34-year-old male. He has no known significant family history of inherited disorder. Endoscopic findings reveal a 5-mm JNET 2A polyp in the rectum which is removed via forceps polypectomy. The microscopic examination shows a polypoid colonic mucosa with fairly circumscribed proliferation of low-grade spindle cells in the lamina propria, separating the crypts. The individual spindle cells are uniform in size with abundant eosinophilic cytoplasm. No mitotic figures, nuclear atypia, pleomorphism and necrosis are noted. Likewise, the crypts do not exhibit serrated architecture.

Proteus syndrome (PS) is a mosaic disorder characterized by asymmetric overgrowth of a variety of tissues. Diagnostic criteria established in 1999 emphasized the mosaic distribution of lesions, progressive course, and disproportionate overgrowth. We present a case of proteus syndrome in a 12-year-old Filipino male with 9 year-history of enlargement of the left foot with soft, non-tender mass on the sole with a brain-like surface. Skin punch biopsy of the mass showed cerebriform connective tissue nevi which is pathognomonic of PS.

PS is a very rare disease with prevalence of less than 1 in 1,000,000 live births. Management of PS is extremely challenging, owing to the combination of the individuality of each case, the severity of the disease, and the risks of complications from procedures. A multidisciplinary clinical approach is strongly recommended to obtain the best possible management plans for individual patients.

Tuberous sclerosis complex (TSC) is a rare, autosomal dominant multisystem disorder affecting the brain, heart, kidneys, lungs, and skin leading to significant morbidity and mortality. We report a case of TSC and highlight the need for prompt diagnosis and proper surveillance to minimize life‑threatening complications. A 20‑year‑old female presented with facial and ungual papulonodular lesions 4 years after being diagnosed with epilepsy at the age of eight. No family history of genetic diseases was reported. Eight years later, the patient developed recurrent cough, shortness of breath, and blurring of vision. Biopsy of facial and digital nodule showed angiofibroma and ungual fibroma (Koenen tumor), respectively. Chest computed tomography scan revealed extensive cystic lesions diffusely scattered throughout the entire lung parenchyma suggestive of lymphangioleiomyomatosis. Cranial MRI revealed cortical and subependymal tubers, compatible with TSC. The patient had multidisciplinary management. However, her symptoms progressed, and she eventually succumbed to death. Cutaneous lesions such as facial angiofibromas and ungual fibromas along with multisystemic manifestations should alarm the clinician to TSC. Given its highly variable expressivity, awareness of different TSC‑associated signs and symptoms is essential for prompt diagnosis, proper treatment, disease monitoring, and early recognition of TSC complications.
Angiofibroma ; Lymphangioleiomyomatosis ; Tuberous Sclerosis

Objective:To investigate the clinical manifestations and treatment of laryngopharynx hamartoma in children. Methods:The clinical data of a child with piriform sinus hamartoma treated in our hospital were analyzed retrospectively. The age, gender, clinical manifestations, auxiliary examination, location of the tumor and surgical methods were analyzed. Results:The patient had a good prognosis after surgery, and no tumor recurrence was found after 1 year of follow-up. Conclusion:Laryngopharynx hamartoma is rare in children. It should be considered in children with laryngeal dysfunction and upper airway obstruction. Complete resection of the tumor is the key to postoperative recurrence.
Child ; Humans ; Hamartoma/surgery* ; Larynx/pathology* ; Neoplasm Recurrence, Local/pathology* ; Pyriform Sinus/pathology* ; Retrospective Studies ; Male ; Female

Laryngeal hamartoma is a benign proliferative tumor-like lesion that occurs in the larynx. A case of supraglotic laryngeal hamartoma admitted by our department and 12 cases of laryngeal hamartoma reported in literature were retrospectively analyzed, the pathogenesis, clinicalmanifestation, diagnosis, treatment and prognosis of laryngeal hamartoma was explored, aiming to improve the understanding and diagnosis and treatment.of this disease.
Humans ; Child ; Retrospective Studies ; Larynx/pathology* ; Laryngoscopy ; Prognosis ; Hamartoma ; Laryngeal Neoplasms/surgery*

Humans ; Tuberous Sclerosis/therapy*

OBJECTIVE: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC). METHODS: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of their family members. RESULTS: Child 1 was a 7-month-and-29-day-old male, and child 2 was a 2-year-and-6-month-old male. Both children had shown symptoms of epileptic seizures and multiple hypomelanotic macules. Genetic testing revealed that both children had harbored de novo variants of the TSC2 gene, namely c.3239_3240insA and c.3330delC, which were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as pathogenic (PVS1+PS2+PM2_Supporting). CONCLUSION This study has uncovered the genetic etiology for two children with TSC. Above findings have also enriched the phenotypic and mutational spectrum of TSC in the Chinese population.
Humans ; Infant ; Male ; Family ; Genetic Testing ; Genomics ; Mutation ; Tuberous Sclerosis/genetics* ; Child, Preschool ; East Asian People

OBJECTIVE: To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS). METHODS: DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members. RESULTS: Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant. CONCLUSION The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
Humans ; Child ; Pallister-Hall Syndrome/genetics* ; Kruppel-Like Transcription Factors/genetics* ; Zinc Finger Protein Gli3/genetics* ; Polydactyly/genetics* ; Hamartoma/pathology* ; Nerve Tissue Proteins/genetics*

〓 Objectives: To analyze the pathological and clinical features of nasal respiratory epithelial adenomatoid hamartoma（REAH）, and summarize the diagnostic points, to improve the experience of diagnosis and treatment. Methods:The clinical data of 16 patients with REAH were analyzed retrospectively. The clinical manifestations, pathological features, imaging features, surgical treatment and prognosis were summarized. Results:16 cases of REAH were studied, 10 cases（62.50%） were associated with sinusitis, 1 case（6.25%） was associated with inverted papilloma, 1 case（6.25%） was associated with hemangioma. 5 cases（31.25%） had a history of nasal sinus surgery, including 1 case with 3 times of nasal sinus surgery, 1 case with 2 times of nasal sinus surgery, 3 cases with 1 time of nasal sinus surgery; 10 cases（62.50%） occurred in the bilateral olfactory cleft, 2 cases（12.50%） in the unilateral olfactory cleft, 3 cases（18.75%） in the unilateral middle turbinate, 1 case（6.25%） in the nasopharynx. All 16 patients were pathologically diagnosed as REAH. In the patients with lesions located in bilateral olfactory fissures, symmetrical widening of olfactory fissures and lateral displacement of middle turbinate were observed on preoperative sinus CT. The average width of bilateral olfactory fissures was （9.9±2.70） mm. The ratio of wide to narrow olfactory cleft was 1.21 ± 0.19. There was no significant difference in Lund-Mackay score between the two sides（P>0.05）. All patients underwent surgery under general anesthesia and nasal endoscopy. The follow-up period ranged from 1 to 66 months, and no recurrence occurred. Conclusion:Preoperative diagnosis of REAH is facilitated by the combination of clinical manifestations and endoscopic and imaging features. Endoscopic complete resection can achieve a good therapeutic effect.
Humans ; Nasal Polyps/complications* ; Retrospective Studies ; Paranasal Sinuses/pathology* ; Adenoma ; Endoscopy/methods* ; Hamartoma/surgery*

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.
Aged ; Basal Cell Nevus Syndrome/surgery* ; Carcinoma, Basal Cell/surgery* ; Child ; Female ; Hamartoma Syndrome, Multiple ; Humans ; Magnetic Resonance Imaging