Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. OCA affects people globally but is most prevalent in African countries. Individuals with oculocutaneous albinism lack UV protection and are prone to skin damage and skin cancers. For many African albino individuals, there are significant challenges in seeking treatment for skin cancer and preventing sun damage due to psychosocial factors and poor education. This review summarizes the current understanding of the epidemiology, genetics, and clinical manifestations of OCA. We also discuss the medical and psychosocial challenges that affect individuals with OCA and the current landscape of albinism treatment modalities. The extent of the psychosocial challenges needs to be better understood and additional educational interventions may improve quality of life for people with albinism.

A systematic review of the incidence of basal cell carcinoma with perineural invasion: conventional pathology versus Mohs micrographic surgery.

Incidence of basal cell carcinoma (BCC) with perineural invasion (PNI) ranges from 0.178 to 10% depending upon whether conventional pathology (formalin fixed, paraffin embedded) or Mohs micrographic surgery (MMS) (frozen sections) is used. To determine the incidence of BCC with PNI determined by conventional pathology versus MMS. A review of PubMed and EMBASE databases, from their inception to December 18th, 2020, identified articles that determined the incidence of BCC with PNI using conventional pathology or MMS. The general (average) incidence of BCC with PNI as determined by studies that used conventional histopathology and MMS was 0.85 and 2.51%, respectively. The observed incidence of BCC with PNI was not significantly higher using MMS compared to conventional pathology (p = 0.82).

Overview of familial syndromes with increased skin malignancies.

The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte carcinomas include basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Multiple familial syndromes have been identified that can increase the risk of developing SCC, BCC, and/or melanoma. The major syndromes include oculocutaneous albinism for SCC, basal cell nevus syndrome for BCC, familial atypical multiple mole-melanoma syndrome, and hereditary breast and ovarian cancer syndrome for melanoma. In addition, familial syndromes that can predispose individuals to all three major skin cancers include xeroderma pigmentosum and Li-Fraumeni syndrome. This review highlights the epidemiology, risk factors, pathogenesis, and etiology of the major and minor syndromes to better identify and manage these conditions. Current investigational trials in genomic medicine are making their way in revolutionizing the clinical diagnosis of these familial syndromes for earlier preventative measures and improvement of long-term prognosis in these patients.

A Histologic Timeline of a Delayed Hypersensitivity Reaction after the COVID-19 Pfizer Booster.

A 54-year-old man presented with worsening bilateral rashes on legs and arms 7 days after receiving his BNT162b2 mRNA COVID-19 (Pfizer) vaccine booster. He developed burning on his palms about 5 days after receiving the booster. On day 6, he observed significant edema on his fingers and palms in addition to thin erythematous papules on his forearms. On day 7, he developed edema on his bilateral dorsal feet, and thin erythematous plaques on his shins. He stated that the rashes were pruritic. He had no rashes following the first two doses of the Pfizer vaccine. He denied having any history of skin disease, autoimmune disease, or allergies. Physical examination revealed multiple thin erythematous papules coalescing into thin plaques on his flexor forearms, and thin erythematous plaques on his dorsal feet (Figure 1). Three 4-mm punch biopsies were performed on his left flexor forearm. The biopsies were carried out at papules present for different lengths of time. Papules at biopsy sites "A," "B," and "C" were present for approximately 24-36 hours, 12-18 hours, and 3-6 hours, respectively (Figure 1).

Bioinformatic and Machine Learning Applications in Melanoma Risk Assessment and Prognosis: A Literature Review.

Over 100,000 people are diagnosed with cutaneous melanoma each year in the United States. Despite recent advancements in metastatic melanoma treatment, such as immunotherapy, there are still over 7000 melanoma-related deaths each year. Melanoma is a highly heterogenous disease, and many underlying genetic drivers have been identified since the introduction of next-generation sequencing. Despite clinical staging guidelines, the prognosis of metastatic melanoma is variable and difficult to predict. Bioinformatic and machine learning analyses relying on genetic, clinical, and histopathologic inputs have been increasingly used to risk stratify melanoma patients with high accuracy. This literature review summarizes the key genetic drivers of melanoma and recent applications of bioinformatic and machine learning models in the risk stratification of melanoma patients. A robustly validated risk stratification tool can potentially guide the physician management of melanoma patients and ultimately improve patient outcomes.

Pediatric sweet syndrome.

Pediatric Sweet syndrome is a rare dermatosis often triggered by a prodromal illness or infection and characterized histologically by a dense neutrophilic infiltrate. We report a 2-year-old girl with a classic presentation of Sweet syndrome following an acute thumb paronychia, who had a negative history of malignancy or immunodeficiency.

Review of Perineural Invasion in Keratinocyte Carcinomas.

Perineural invasion is an infiltrative process of peripheral nerves by the primary neoplasm within the immediate vicinity. Aggressive forms of keratinocyte carcinomas, such as basal cell and squamous cell carcinomas, may feature perineural invasion, which is often associated with tumor recurrence and poorer prognosis. Diagnosis requires a high clinical suspicion. Imaging and histopathology are used to assess for extent of disease while surgical excision with complete circumferential peripheral and margin assessment is the treatment goal. However, there is still significant uncertainty about adjuvant chemotherapy and definitive management guidelines. Here, we summarize the current understanding of this complex pathogenic process, the clinical presentation, and the significance of perineural inflammation. We also discuss the recommendations about staging, prognosis, adjuvant radiotherapy, and general guidelines for managing keratinocyte carcinomas with perineural invasion. A better understanding of perineural invasion is essential to improve diagnosis, tailor interventions, and mitigate patient morbidity and mortality.

Hydroxyurea: a reappraisal of its cutaneous side effects and their management.

Hydroxyurea (HU) is known to cause a broad spectrum of cutaneous side effects, ranging from relatively benign to severe. Although dermatologists are often consulted for the treatment of these side effects, a comprehensive resource discussing the different types and their management is lacking. In this study, we conducted a literature search in order to critically evaluate the reported types and management of hydroxyurea's cutaneous side effects, as well as review its mechanism of action, dermatologic uses, and common systemic side effects. Relatively common and benign side effects include hyperpigmentation, xerosis, and skin atrophy. While serious cutaneous side effects such as leg ulcers or nonmelanoma skin cancers occur in a substantial proportion of patients, these may resolve with HU discontinuation and proper dermatologic management. Therefore, it is crucial for dermatologists to be aware of these various cutaneous side effects and their management as prompt diagnosis and proper treatment will improve patient outcomes.

Collision tumors: A review of their types, pathogenesis, and diagnostic challenges.

A collision tumor is a neoplastic lesion comprised of two or more distinct cell populations that maintain distinct borders. Collision tumors, which are rare but well documented, can be composed of two benign tumors, a benign and malignant tumor, and two malignant tumors. Although case reports and reviews on specific types of collision tumors exist, a cohesive source discussing these tumors is lacking. We critically reviewed the literature by analyzing case reports and retrospective studies in order to evaluate the following regarding collision tumors: definitions, types, pathogenesis, diagnosis, and management. Reports of these tumors are infrequent but not insignificant, and accurate classification and diagnosis will lead to better patient outcomes.