[Diagnosis and treatment of divided nevus of the penis in children: A case report and literature review].

Objective: To explore the diagnosis and treatment of divided nevus of the penis (DNP) in children.

Methods: We retrospectively analyzed the clinical data on a case of DNP treated by surgical resection and transplantation of free skin graft of the inner preputial plate, and searched PubMed, CNKI and Wanfang database prior to March 2021 for relevant literature, followed by analysis of the clinical characteristics, diagnosis and treatment of DNP.

Results: The free skin graft on the left side of the glans survived well.

Patient and caregiver perspectives on delayed childhood Gorlin syndrome diagnoses.

The diagnostic trends of Gorlin syndrome (GS) in the pediatric population are not well understood. In an international survey conducted by the Gorlin Syndrome Alliance, 118 individuals who were diagnosed with GS when aged 18 years and under provided information about their diagnosis. Oral surgeons and dermatologists were the most commonly reported physicians involved in diagnosis for 48.

Fractal Dimension Analysis of Melanocytic Nevi and Melanomas in Normal and Polarized Light-A Preliminary Report.

Clinical diagnosis of pigmented lesions can be a challenge in everyday practice. Benign and dysplastic nevi and melanomas may have similar clinical presentations, but completely different prognoses. Fractal dimensions of shape and texture can describe the complexity of the pigmented lesion structure.

Decoding a gene expression program that accompanies the phenotype of sporadic and basal cell nevus syndrome-associated odontogenic keratocyst.

Background: Odontogenic keratocyst is characterized by local aggressive behavior and a high recurrence rate, as well as its potential to develop in association with the basal cell nevus syndrome. The aim of this study was to decode the gene expression program accompanying odontogenic keratocyst phenotype.

Methods: 150-bp paired-end RNA-sequencing was applied on six sporadic and six basal cell nevus syndrome-associated whole-tissue odontogenic keratocyst samples in comparison to six dental follicles, coupled with bioinformatics and complemented by immunohistochemistry.

Acquired Compound Melanocytic Nevus on the Palate of a Child: Report of a Case.

Background: Oral melanocytic nevi are relatively rare in comparison to their cutaneous counterparts. The aim of this manuscript is to present a case of acquired compound oral melanocytic nevi on the hard palatal mucosa of a child.

Methods: A 5-year-old female girl was referred for evaluation of a pigmented lesion on the hard palate.

Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome.

Carney complex is a rare familial multineoplastic syndrome predisposing to endocrine and nonendocrine tumors due to inactivating mutations of PRKAR1A, leading to perturbations of the cAMP‒protein kinase A signaling pathway. Skin lesions are the most common manifestation of Carney complex, including lentigines, blue nevi, and cutaneous myxomas in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained.

Texture Analysis in Diagnosing Skin Pigmented Lesions in Normal and Polarized Light-A Preliminary Report.

The differential diagnosis of benign nevi (BN), dysplastic nevi (DN), and melanomas (MM) represents a considerable clinical problem. These lesions are similar in clinical examination but have different prognoses and therapeutic management techniques. A texture analysis (TA) is a mathematical and statistical analysis of pixel patterns of a digital image.

The Role of Reflectance Confocal Microscopy in the Evaluation of Pigmented Oral Lesions and Their Relationship With Histopathological Aspects.

Oral pigmentations are a heterogeneous group and can be the result of physiological activity of oral mucosal melanocytes, secondary to exogenous causes, associated with systemic or local diseases, or due to proliferative activity of melanocytes. Their diagnosis is critical because these lesions can be markers of internal diseases or, in the case of melanocytic proliferative processes, they may represent a malignant neoplasm. In the past decade, the use of reflectance confocal microscopy, a noninvasive imaging tool, has aided the analysis of such lesions, but the establishment of firm criteria in their evaluation is still lacking.

Development of a targeted gene panel for the diagnosis of Gorlin syndrome.

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test.

Principles of Surgery in Head and Neck Cutaneous Melanoma.

Surgical management of head and neck melanoma starts from the primary biopsy of the cutaneous site by a narrow excision with a 1 to 3 mm margins. The margin should include the whole breadth and sufficient depth of the lesion. The key is not to transect the lesion.

Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome.

Becker nevus (BN) is a benign cutaneous smooth muscle hamartoma that presents with a hyperpigmented patch or plaque with or without hypertrichosis.1 BN may be associated with ipsilateral breast hypoplasia or other musculoskeletal abnormalities, an association which has been termed Becker nevus syndrome (BNS).

Nevoid basal cell carcinoma syndrome with anophthalmia: a case report.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome or Goltz-Gorlin syndrome, is a complex and rare autosomal dominant inherited disease. A large number of studies have confirmed that PTCH1 gene is associated with NBCCS. This study presents a case of NBCCS with anophthalmia of the left eye.

The odontogenic keratocyst revisited.

The treatment of odontogenic keratocysts is reviewed in light of the aetiology and pathogenesis of these lesions. The role of the dental lamina and submucosal hamartias, as frequently seen in nevoid basal cell carcinoma syndrome, is discussed, and the implications for treatment are emphasized.

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer.

We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal skin by whole exome sequencing of cancer susceptibility genes.

Blue Nevus of the Hard Palate: The Importance of a Careful Examination in an Emergency Setting.

Oral common blue nevus is an asymptomatic, benign, rare, pigmented lesion and sometimes clinically indistinguishable from other pigmented lesions such as the cellular blue nevus or early-stage malignant melanoma. Since it shows clinical similarities with a malignant lesion and with cellular blue nevus that can itself suffer malignant transformation, the decisive diagnosis is crucial for adequate treatment, follow-up, and prognosis. Diagnosis confirmation is given by histological analysis, the reason why most oral pigmented lesions are excised.

[Detection of SMO gene mutations in odontogenic keratocyst].

To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected.

Compound blue nevus: A misleading pigmented melanocytic tumor.

Compound blue nevus had clinical and histological similarities with other heavily pigmented melanocytic tumor, like the pigmented epithelioid melanocytoma. Distinctive genomic aberrations have allowed differentiating it. The defining characteristic of blue nevi family is the presence of activating mutations in the G protein α-subunits, GNAQ and GNA11.

Blue rubber bleb nevus syndrome: a single-center case series in 12 years.

Background: Blue rubber bleb nevus syndrome is a rare congenital disease characterized by multiple venous malformations in skin and gastrointestinal tract, not all patients have typical cutaneous lesions, refractory anemia may be the only clinical symptom, it is easy to miss diagnosis.

Methods: A retrospective single center study was conducted on 8 patients with blue rubber bleb nevus syndrome from 2009 to 2021. Data were analyzed including clinical feature, diagnostic workup and results, gene detection, treatment and follow-up.