Primary Malignant Melanoma of the Endometrium: A Case Report.

Introduction: Malignant melanoma most commonly occurs in the skin. Primary malignant melanoma of endometrium is quite rare. Its diagnosis depends on clinical characteristics and pathological examination.

Digital pathology-based artificial intelligence models for differential diagnosis and prognosis of sporadic odontogenic keratocysts.

Odontogenic keratocyst (OKC) is a common jaw cyst with a high recurrence rate. OKC combined with basal cell carcinoma as well as skeletal and other developmental abnormalities is thought to be associated with Gorlin syndrome. Moreover, OKC needs to be differentiated from orthokeratinized odontogenic cyst and other jaw cysts.

Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.

Background: Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear.

Concurrent Occurrence of Trichilemmal Cyst and Nevus of Ota: Case Series.

Nevus of Ota or congenital oculodermal melanosis (ODM) is characterized by brown or blue/gray asymptomatic brown or blue/gray flat lesions of the skin, mucosae, episcleral/sclera, and uvea, which are located near the trigeminal nerve's ophthalmic and mandibular branches. The main ophthalmic complications are glaucoma and predisposition to uveal melanoma. "trichilemmal cyst" is also known as "wen" "pilar cyst" or " isthmus catagen cyst".

PRAME Immunohistochemistry for Distinguishing Vulvar and Vaginal Melanoma From Benign Melanocytic Nevi.

Vulvovaginal melanoma (VVM) is a rare but deadly disease, accounting for 5% of all vulvar malignancies, with a 5-yr survival rate of only 47% for all stages of the disease. VVM is a distinct subset of melanoma, with a unique genomic profile and underlying pathogenesis unassociated with sun exposure. Distinguishing these rare malignancies from very common pigmented lesions of the vulva and vagina is challenging as histologic features often overlap between entities.

Atypical Presentation of Spitz Nevus: A Case Report.

Introduction: The Spitz nevus (SN) is an acquired melanocytic neoplasm composed of epithelioid and/or spindle cells, which tends to develop in childhood. In pediatric patients, it is usually located on the face and neck. Unusual locations have been found in the literature, such as the penis, mouth, and tongue, as well as 2 cases of ungual SN.

Exploring the Changing Diagnostic Criteria of Gorlin-Goltz Syndrome: A Case Report.

Gorlin-Goltz syndrome, also known as Gorlin syndrome, basal cell nevus syndrome, and nevoid basal cell carcinoma syndrome, is an autosomal dominant genetic disorder. Its hallmark is an early onset of basal cell carcinoma. Additionally, the syndrome is characterized by a spectrum of distinct clinical attributes encompassing oral, skeletal, ophthalmic, neurological, and developmental aberrations.

Atypical Spitz tumor with SQSTM1::NTRK2 fusion: Report of a case with unique spindled cell features.

A host of signature genetic alterations have been demonstrated in Spitz neoplasms, most notably fusions of kinase genes (including BRAF, ALK, ROS1, NTRK1, NTRK3, RET, MET, MAP3K8) or variants in HRAS. While there are multiple reports of rearrangements involving NTRK1 and NTRK3 in Spitz tumors, there are very few reports of NTRK2-rearranged Spitz nevi in the literature. This report presents an NTRK2-rearranged atypical Spitz tumor with spindled cell features.

Conjunctival Melanoma: A Case Presentation.

Conjunctival melanoma is an uncommon tumor that is likely to recur and carries an overall mortality rate of approximately 30%. Melanoma arises from melanocytes, most often in sun-exposed skin. Less commonly, melanoma originates from other tissues such as the uvea, rectum, mouth, respiratory tract, and conjunctiva.

Non-familial White Sponge Nevus, an Innocuous yet Clinically Significant Entity: Report of a Case with Review of the Literature.

White sponge nevus (WSN) is a hereditary mucosal defect that primarily affects the oral mucosa, presenting with asymptomatic velvety, corrugated hyperkeratotic white plaques that do not disappear on stretching the mucosa. In this case report, we present a non-familial case of a WSN occurring in the tongue in a middle-aged female, which was misdiagnosed as verrucous leukoplakia.

Finetuning of GLIDE stable diffusion model for AI-based text-conditional image synthesis of dermoscopic images.

Background: The development of artificial intelligence (AI)-based algorithms and advances in medical domains rely on large datasets. A recent advancement in text-to-image generative AI is GLIDE (Guided Language to Image Diffusion for Generation and Editing). There are a number of representations available in the GLIDE model, but it has not been refined for medical applications.

Sustained Suppression of Gorlin Syndrome-Associated Basal Cell Carcinomas with Vismodegib or Sonidegib: A Case Series.

Nevoid basal-cell carcinoma syndrome (Gorlin syndrome) is characterized by numerous cutaneous basal cell carcinomas mediated by mutations in the hedgehog pathway. Vismodegib or sonidegib represent promising treatment options. We identified 10 Gorlin patients who were treated with sonidegib ( = 6) or vismodegib ( = 4) between March 2012 and March 2022.

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.

The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling.

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the Gene in BCNS.

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 () gene and the suppressor of the fused homolog () gene. In a few cases, variants of patched 2 () have been found in patients who met the criteria for BCNS.