Objective: To investigate the clinicopathological characteristics, immunohistochemical profiles, molecular features, and prognosis of subungual melanoma in situ (SMIS). Methods: Thirty cases of SMIS were collected in Fudan University Shanghai Cancer Center, Shanghai, China from 2018 to 2022. The clinicopathological characteristics and follow-up data were retrospectively analyzed. Histopathologic evaluation and immunohistochemical studies were carried out. By using Vysis melanoma fluorescence in situ hybridization (FISH) probe kit, combined with 9p21(CDKN2A) and 8q24(MYC) assays were performed. Results: There were 8 males and 22 females. The patients' ages ranged from 22 to 65 years (median 48 years). All patients presented with longitudinal melanonychia involving a single digit. Thumb was the most commonly affected digit (16/30, 53.3%). 56.7% (17/30) of the cases presented with Hutchinson's sign. Microscopically, melanocytes proliferated along the dermo-epithelial junction. Hyperchromatism and nuclear pleomorphism were two of the most common histological features. The melanocyte count ranged from 30 to 185. Most cases showed small to medium nuclear enlargement (29/30, 96.7%). Pagetoid spread was seen in all cases. Intra-epithelial mitoses were identified in 56.7% (17/30) of the cases. Involvement of nailfold was found in 19 cases, 4 of which were accompanied by cutaneous adnexal extension. The positive rates of SOX10, PNL2, Melan A, HMB45, S-100, and PRAME were 100.0%, 100.0%, 96.0%, 95.0%, 76.9%, and 83.3%, respectively. FISH analysis was positive in 6/9 of the cases. Follow-up data were available in 28 patients, and all of them were alive without disease. Conclusions: SMIS mainly shows small to medium-sized cells. High melanocyte count, hyperchromatism, nuclear pleomorphism, Pagetoid spreading, intra-epithelial mitosis, nailfold involvement, and cutaneous adnexal extension are important diagnostic hallmarks. Immunohistochemistry including SOX10 and PRAME, combined with FISH analysis, is valuable for the diagnosis of SMIS.
Male ; Female ; Humans ; Young Adult ; Adult ; Middle Aged ; Aged ; Skin Neoplasms/pathology* ; Prognosis ; Retrospective Studies ; In Situ Hybridization, Fluorescence ; China ; Melanoma/diagnosis* ; Nail Diseases/pathology* ; Antigens, Neoplasm

Betacoronavirus ; Coronavirus Infections ; epidemiology ; Humans ; Melanoma ; diagnosis ; therapy ; Pandemics ; Pneumonia, Viral ; epidemiology ; Skin Neoplasms ; diagnosis ; therapy

Dermoscopy ; Diagnosis, Differential ; Face ; Humans ; Nevus, Pigmented ; Skin Neoplasms/diagnostic imaging* ; Wood

Dermoscopy ; Diagnosis, Differential ; Humans ; Microscopy, Confocal ; Psoriasis/diagnostic imaging* ; Skin Neoplasms/diagnosis*

Artificial Intelligence ; Deep Learning ; Diabetic Retinopathy ; diagnosis ; Humans ; Image Processing, Computer-Assisted ; Machine Learning ; Mass Screening ; Melanoma ; diagnosis ; Referral and Consultation ; Skin Neoplasms ; diagnosis ; Triage

Chronic burn scars often cause various skin malignancies at rates of up to 2%. These lesions are usually squamous cell carcinomas, but rarely, malignant melanoma is reported. We report a 67-year-old male with a malignant melanoma on a burn scar with regional metastasis. This patient presented an ulcerative lesion only in 2 weeks. After histopathological diagnosis, we performed only palliative surgery on patient's demand, and followed up the subsequent deterioration course. Our case reemphasizes the need for rapid diagnosis and treatment when suspect lesions are present on chronic burn scar. Also, physician should be in mind and inform the patient about malignant melanoma and its aggressive course.
Aged ; Burns ; Carcinoma, Squamous Cell ; Cicatrix ; Diagnosis ; Humans ; Male ; Melanoma ; Neoplasm Metastasis ; Palliative Care ; Skin ; Skin Neoplasms ; Ulcer

OBJECTIVE: To examine the association between psychiatric disorders and neoplasms. METHODS: A follow-up study of a population-based cohort of patients admitted for psychiatric care between the ages 13–17 years. The cases were patients with a follow-up diagnosis of neoplasm. The K-SADS-PL interview was used to assess DSM-IV based psychiatric diagnoses at adolescence. The treatment episodes due to neoplasms and related psychiatric disorders were extracted from the National Health Care Registers. RESULTS: Of the original cohort, 6.3% of subjects had a neoplasm diagnosis. Male cases were characterized as taking snuff and females as having a fear of becoming obese. 75% of cases had smoked regularly and 47% suffered from substance misuse disorder already in adolescence. At a mean age of 22 years, the diagnoses of skin or soft tissue neoplasms were prevailing, three being malignant neoplasms of the skin, mouth or colon. Non-psychotic disorders were comorbid both two years before (26%) and after (33%) the neoplasm diagnosis. CONCLUSION: Focus on psychiatric symptoms of patients with neoplasms may enhance their treatment outcome and quality of life.
Adolescent ; Cohort Studies ; Colon ; Delivery of Health Care ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Female ; Follow-Up Studies ; Humans ; Inpatients ; Male ; Mouth ; Prevalence ; Quality of Life ; Skin ; Smoke ; Soft Tissue Neoplasms ; Tobacco, Smokeless ; Treatment Outcome ; Young Adult

Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is a rare but critical disease with a high mortality rate. The diagnostic dilemma of PPP syndrome is the fact that symptoms occur unexpectedly. A 48-year-old man presented with fever and painful swelling of the left foot that was initially mistaken for cellulitis and gouty arthritis. The diagnosis of PPP syndrome was made based on the abdominal CT findings and elevated pancreatic enzyme levels, lobular panniculitis with ghost cells on a skin biopsy, and polyarthritis on a bone scan. The pancreatitis and panniculitis disappeared spontaneously over time, but the polyarthritis followed its own course despite the use of anti-inflammatory agents. In addition to this case, 30 cases of PPP syndrome in the English literature were reviewed. Most of the patients had initial symptoms other than abdominal pain, leading to misdiagnosis. About one-third of them were finally diagnosed with a pancreatic tumor, of which pancreatic acinar cell carcinoma was the most dominant. They showed a mortality rate of 32.3%, associated mainly with the pancreatic malignancy. Therefore, PPP syndrome should be considered when cutaneous or osteoarticular manifestations occur in patients with pancreatitis. Active investigation and continued observations are needed for patients suspected of PPP syndrome.
Abdominal Pain ; Anti-Inflammatory Agents ; Arthritis ; Arthritis, Gouty ; Biopsy ; Carcinoma, Acinar Cell ; Cellulitis ; Diagnosis ; Diagnostic Errors ; Fever ; Foot ; Humans ; Middle Aged ; Mortality ; Pancreatic Neoplasms ; Pancreatitis ; Panniculitis ; Skin ; Tomography, X-Ray Computed

An atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy occurring in the first few years of life. This tumor shows rapid growth, a poor response to treatment, and poor prognosis. Cutaneous metastases presents as hamartomatous lesions mimicking skin tags. Immunohistochemical examination shows varied patterns of expression based on the sites of the body affected. Integrase interactor-1 (INI-1) gene sequencing and loss of expression of INI-1 observed with immunostaining can confirm AT/RT. In our patient, the skin lesion was identified at birth. Histopathological examination of the skin lesion could not establish an accurate diagnosis. Two months later, the patient presented with a brain tumor. Immunohistochemical examination of the brain lesion revealed complete loss of INI-1 expression in tumor cells, and the lesion was diagnosed as AT/RT. After that, we can detect the loss of INI-1 expression in the skin on the back. We report a rare case of AT/RT affecting the brain with cutaneous metastasis diagnosed with immunohistochemical staining.
Brain ; Brain Neoplasms ; Diagnosis ; Humans ; Integrases ; Neoplasm Metastasis ; Parturition ; Prognosis ; Skin

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by the formation of hair follicle tumors, kidney tumors, and pulmonary cysts with recurrent spontaneous pneumothorax. A 44-year-old woman visited Wonkwang University Hospital with mild dyspnea. A chest X-ray on admission revealed pneumothorax in both lung fields. Chest computed tomography (CT) revealed both pneumothorax and multiple, irregularly shaped, variable-sized cysts in both lung fields. Upon physical examination, white dome-shaped papules were observed on the face. Histological examination of the skin lesion confirmed fibrofolliculoma, and genetic studies revealed a folliculin gene mutation. Abdominal CT revealed a 1-cm small solid renal mass at the lower pole of the right kidney. We surgically removed the renal tumor, and a histological diagnosis of oncocytoma was made. Here, we report a case of BHD that demonstrated all three clinical manifestations; this is the first case report of its kind in Korea.
Adenoma, Oxyphilic ; Adult ; Birt-Hogg-Dube Syndrome ; Diagnosis ; Dyspnea ; Estrone ; Female ; Hair Follicle ; Humans ; Kidney ; Kidney Neoplasms ; Korea ; Lung ; Physical Examination ; Pneumothorax ; Skin ; Thorax ; Tomography, X-Ray Computed