OBJECTIVES: Verrucous epidermal nevus (VEN), seborrheic keratosis (SK), verruca plana (VP), verruca vulgaris (VV), and nevus sebaceous (NS) are common verrucous proliferative skin diseases with similar clinical appearances, often posing diagnostic challenges. Dermoscopy and reflectance confocal microscopy (RCM) can aid in their differentiation, yet their specific features under these tools have not been systematically described. This study aims to summarize and analyze the dermoscopic and RCM features of VEN, SK, VP, VV, and NS. METHODS: A total of 121 patients with histopathologically confirmed verrucous proliferative skin diseases were enrolled. Dermoscopy and RCM imaging was used to observe and analyze the microscopic features of these conditions. RESULTS: Under dermoscopy, the 5 diseases displayed distinct characteristics: VEN typically showed gyriform structures; SK was characterized by gyriform structures, comedo-like openings, and milia-like cysts; VP and VV featured dotted vessels and frogspawn-like structures; NS presented as brownish-yellow globules. RCM revealed shared features such as hyperkeratosis and acanthosis across all 5 diseases. Specific features included gyriform structures and elongated rete ridges in VEN; pseudocysts and gyriform structures in SK; evenly distributed ring-like structures in VP; vacuolated cells and papillomatous proliferation in VV; and frogspawn-like structures in NS. CONCLUSIONS These 5 verrucous proliferative skin conditions exhibit distinguishable features under both dermoscopy and RCM. The combination of these 2 noninvasive imaging modalities holds significant clinical value for the differential diagnosis of verrucous proliferative skin diseases.
Humans ; Dermoscopy/methods* ; Diagnosis, Differential ; Microscopy, Confocal/methods* ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Keratosis, Seborrheic/pathology* ; Young Adult ; Warts/diagnosis* ; Child ; Aged ; Skin Diseases/pathology* ; Nevus, Sebaceous of Jadassohn/diagnosis* ; Skin Neoplasms/diagnosis* ; Child, Preschool

OBJECTIVES: Papular dermatoses commonly affecting the female vulva, such as molluscum contagiosum, syringoma, lymphangioma, folliculitis, verruca vulgaris, ectopic sebaceous glands, and bowenoid papulosis, often present with similar clinical appearances and are frequently misdiagnosed. This study aims to explore the clinical diagnostic value of reflectance confocal microscopy (RCM) in differentiating these conditions. METHODS: A retrospective analysis was conducted on RCM imaging and histopathological findings from lesion sites in 172 female patients with vulval papular dermatoses. RCM characteristics confirmed by biopsy were summarized and diagnostic clues were explored. RESULTS: RCM diagnosis was consistent with histopathological diagnosis in 147 out of 172 cases (85.47%). Molluscum contagiosum, syringoma, lymphangioma, and folliculitis all exhibited cystic-like structures under RCM, differing in the location of the structures, wall characteristics, internal contents, and reflectivity. Verruca vulgaris, ectopic sebaceous glands, and bowenoid papulosis lacked such structures. Verruca vulgaris showed distinctive low-refractive vacuolated cells in the spinous layer; bowenoid papulosis exhibited mild cytologic atypia in the spinous layer; ectopic sebaceous glands were characterized by moderately to low-refractive, fish roe-like sebaceous lobules within the dermis. CONCLUSIONS RCM enables noninvasive, real-time, and dynamic visualization of key diagnostic and differential features of common vulvar papular dermatoses in women, offering high diagnostic value.
Humans ; Female ; Microscopy, Confocal/methods* ; Retrospective Studies ; Adult ; Vulvar Diseases/diagnosis* ; Middle Aged ; Young Adult ; Aged ; Adolescent ; Diagnosis, Differential ; Child ; Skin Diseases/pathology* ; Molluscum Contagiosum/diagnosis*

OBJECTIVES: The presence of multi-scale skin lesion regions and image noise interference and limited resources of auxiliary diagnostic equipment affect the accuracy of skin disease detection in skin disease detection tasks. To solve these problems, we propose a highly efficient and lightweight skin disease detection model using an improved RT-DETR model. METHODS: A lightweight FasterNet was introduced as the backbone network and the FasterNetBlock module was parametrically refined. A Convolutional and Attention Fusion Module (CAFM) was used to replace the multi-head self-attention mechanism in the neck network to enhance the ability of the AIFI-CAFM module for capturing global dependencies and local detail information. The DRB-HSFPN feature pyramid network was designed to replace the Cross-Scale Feature Fusion Module (CCFM) to allow the integration of contextual information across different scales to improve the semantic feature expression capacity of the neck network. Finally, combining the advantages of Inner-IoU and EIoU, the Inner-EIoU was used to replace the original loss function GIOU to further enhance the model's inference accuracy and convergence speed. RESULTS: The experimental results on the HAM10000 dataset showed that the improved RT-DETR model, as compared with the original model, had increased mAP@50 and mAP@50:95 by 4.5% and 2.8%, respectively, with a detection speed of 59.1 frames per second (FPS). The improved model had a parameter count of 10.9 M and a computational load of 19.3 GFLOPs, which were reduced by 46.0% and 67.2% compared to those of the original model, validating the effectiveness of the improved model. CONCLUSIONS The proposed SD-DETR model significantly improves the performance of skin disease detection tasks by effectively extracting and integrating multi-scale features while reducing both parameter count and computational load.
Humans ; Skin Diseases/diagnosis* ; Skin/pathology* ; Neural Networks, Computer ; Algorithms

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

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of ectopic meningothelial hamartoma (EMH). Methods: Three cases of EMH diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to December 2020 were enrolled. All cases were evaluated by clinical and imaging features, HE and immunohistochemical staining, and the relevant literature was reviewed. Results: There were one male and two female patients, aged 2, 67 and 19 years, respectively. Clinically, they presented as skin masses in the head and face region (two cases) and sacro-coccygeal region (one case). Grossly, the lesions ranged in size from 1.6 cm to 8.9 cm. Microscopically, the lesions were ill-defined, and located in the dermis and subcutis, and showed pseudovascular channels lined by monolayer of cuboidal to flattened epithelium with mild atypia, with variable cystic cavity formation. There was prominent interstitial fibrosis. Concentric, lamellated, onion skin-like arrangement with short spindle or ovoid cells and psammoma bodies were noted. Immunohistochemically, these cells were strongly positive for SSTR2, EMA, vimentin and progesterone receptor. Ki-67 positive index was low, approximately 1%. Conclusions: EMH is uncommon. Definitive diagnosis relies on histopathologic examination. The importance in recognizing the lesions is to differentiate from other more aggressive tumors.
Choristoma/pathology* ; Diagnosis, Differential ; Female ; Hamartoma/pathology* ; Humans ; Male ; Meninges ; Skin Diseases/pathology*

BACKGROUND: Argyria is a rare irreversible cutaneous pigmentation disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with muscle weakness. CASE PRESENTATION: A 74-year-old woman visited our emergency room, complaining of fever and mental deterioration. She was diagnosed with acute pyelonephritis and recovered after antibiotic therapy. At presentation, diffuse slate gray-bluish pigmented patches were noticed on her face and nails. Two months prior to visiting our hospital, she was diagnosed with inflammatory myopathy and given steroid therapy at another hospital. We performed a nerve conduction study that revealed polyneuropathy. In skin biopsies from pigmented areas of the forehead and nose, the histopathologic results showed brown-black granules in basement membranes of sweat gland epithelia, which are diagnostic findings of argyria. We reviewed pathology slides obtained from the left thigh muscles and found markedly degenerated myofibers with disorganization of myofibrils without inflammatory reactions, consistent with unspecified myopathy, rather than inflammatory myopathy. The patient was diagnosed with generalized argyria with polyneuropathy and myopathy and transferred to a rehabilitation institution after being tapered off of steroids. CONCLUSIONS: Clinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin pigmentation and muscle weakness.
Aged ; Argyria* ; Basement Membrane ; Biopsy ; Diagnosis, Differential ; Eating ; Emergency Service, Hospital ; Female ; Fever ; Forehead ; Humans ; Muscle Weakness* ; Muscles ; Muscular Diseases ; Myofibrils ; Myositis ; Neural Conduction ; Nose ; Pathology ; Pigmentation Disorders ; Polyneuropathies ; Pyelonephritis ; Rehabilitation ; Silver ; Skin ; Skin Pigmentation ; Steroids ; Sweat Glands ; Thigh

Adult ; Cardiomyopathies ; diagnosis ; etiology ; Electrocardiography ; Heart Block ; diagnosis ; etiology ; Humans ; Male ; Sarcoidosis ; complications ; diagnosis ; pathology ; Skin Diseases ; diagnosis ; etiology ; pathology

Epidermis ; pathology ; Humans ; Male ; Middle Aged ; Necrosis ; diagnosis ; Skin Diseases ; diagnosis

OBJECTIVETo explore clinical, radiographical and genetic characteristics of classical Hutchinson-Gilford progeria syndrome (HGPS).

METHODData of a case of HGPS diagnosed at Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was analyzed and related literature was reviewed.

RESULTAt the age of 8 months, the affected-infant presented with characteristic manifestation such as short stature, low weight, frontal bossing, alopecia, prominent scalp veins, micrognathia with a vertical midline groove in the chin, sclerodermatous skin, knee joints contracture with a horse-riding stance, and limited range of movement of ankle joints. Blood test showed blood platelet count (416-490) ×10(9)/L. Lower extremities MRI showed reduced subcutaneous fat. LMNA gene analysis showed that the affected-infant carried typical heterozygous mutation: c. 1824C>T (p. G608G), while his parents were normal. At the age of 13 months, X-rays showed short distal phalanges and clavicles with acro-osteolysis. After following up for 15 months, his appearance of progeria became more apparent. As far as we know, there are only 2 cases of classical HGPS confirmed by gene analysis in China.

CONCLUSIONClassical HGPS should be considered when infants appeared with sclerodermatous skin. Genetic analysis could help to diagnose classical HGPS as early as possible and avoid unnecessary investigations. In addition, affected-infants need to be long term followed-up and provided genetic counseling.

Abnormalities, Multiple ; diagnosis ; pathology ; DNA Mutational Analysis ; Diagnosis, Differential ; Hand ; diagnostic imaging ; pathology ; Humans ; Infant ; Lamin Type A ; genetics ; Lower Extremity ; diagnostic imaging ; pathology ; Male ; Mutation ; genetics ; Osteolysis, Essential ; pathology ; Progeria ; diagnosis ; genetics ; pathology ; Retrospective Studies ; Skin Diseases ; diagnosis ; genetics ; pathology ; Tomography, X-Ray Computed

OBJECTIVETo investigate the clinicopathologic features, diagnosis, differential diagnosis of multiple Rosai-Dorfman disease (RDD).

METHODSSeven cases of multiple RDD were treated in Fujian Provincal Hospital and Fuzhou General Hospital of Nanjing Military Command of Chinese PLA. The disease was analyzed, focusing on the process of diagnosis, the treatment and follow-up. Histopathology, immunohistochemical profiles and relative literature were reviewed to reveal the characteristics of this disease.

RESULTSThe seven cases, occurred in 3 women and 4 men from 18 to 60 years of age (median 45.71 years), with masses measured of 0.8-6.0 cm (average size of 3.0 cm). Masses located in, left subcutaneous arm, thyroid, paratrachea, left maxilla, right subcutaneous cheek, left subcutaneous chest wall, right subcutaneous inguina, bilateral subcutaneous neck, right tibia, right thigh skin, right frontal lobe of brain, cerebral parafalx and bilateral lymph nodes of the neck, respectively. Among the cases, from the first case to the sixth case were extranodal tissue, and the seventh case was located in lymph nodes. Cases showed progressive increase of the mass. Histologically, all lesions of seven cases were similar with nodular structures presenting with alternating hyper- and hypo-cellular areas. The hypo-cellular areas revealed lymph-sinustoid structure characterized by variable numbers of large histiocytes, which had an abundant cytoplasm, pale to eosinophilic in appearance, phagocytozed intact lymphocytes or emperipolesis. While hyper-cellular areas revealed the infiltration of lymphocytes, plasma cells, neutrophils and numerous collagen fiber. Two cases also revealed the infiltration of lymphoid follicles. Immunohistochemically, the large histiocytes were strongly positive for S-100, CD163 and CD68 protein.

CONCLUSIONSMultiple RDD is rare. In clinic and pathology, it needs to be differentiated from granulomatous diseases, IgG4-related sclerotic diseases, inflammatory myofibroblastic tumor, fibrohistiocytoma, Langerhans cell histiocytosis, and so on. The primary approach of treatment for multiple RDD is complete surgical excision and its prognosis is good.

Adult ; Brain Diseases ; pathology ; Diagnosis, Differential ; Female ; Histiocytosis, Langerhans-Cell ; pathology ; Histiocytosis, Sinus ; pathology ; Humans ; Lymph Nodes ; pathology ; Lymphatic Diseases ; pathology ; Male ; Middle Aged ; Skin Diseases ; pathology ; Thigh ; Young Adult