Skin cancer-associated genodermatoses in skin of color patients: a review.

Skin cancers are associated with a large number of genodermatoses. Existing knowledge and guidelines on the presentations of these genodermatoses focus disproportionately on White patients. Our goal is to identify notable characteristics in location, frequency, and severity of cutaneous findings along with the median age of skin cancers in skin-of-color (SOC) patients with skin-cancer-associated genodermatoses to improve diagnosis rates. We searched for genodermatoses on six databases. Each case report or case series was reviewed, including reports, published in English, containing adult patient descriptions. Duplicate manuscripts were removed using EndNote. The following case-level data were collected from the manuscripts: age, gender, patient country or region of origin, author country/continent of residence, skin cancer-related, and other key dermatologic features. 381 published articles, with a total of 578 SOC patients, met criteria for inclusion. SOC patients can present with fewer classic findings, such as a lower incidence of basal cell carcinomas (44%) in SOC Gorlin syndrome patients than palmar pits (66%) and mandibular cysts (66%). Differences between SOC populations were also noted, such as leukoplakia being more common in Asian dyskeratosis congenita patients (80%) in comparison to African dyskeratosis congenita patients (44%). SOC patients also have varying onset of skin cancer depending on the genodermatosis, from a median of 25 years of age in Rothmund-Thomson syndrome to 53 in Muir-Torre syndrome. In this review, SOC patients with genodermatoses can have varying presentations. Being cognizant of these characteristics may lead to earlier diagnosis and interventions to mitigate skin-cancer-related morbidity in SOC patients.

Response to ustekinumab in three pediatric patients with alopecia areata.

Alopecia areata (AA) is relatively common and can have a significant impact on quality of life, especially in a pediatric population. Currently available treatments are often ineffective or have poor safety profiles. Recent studies have highlighted the importance of the Th1 pathway in the pathogenesis of AA, suggesting ustekinumab as a treatment modality for this disease. We present three pediatric AA patients who demonstrated hair regrowth after initiating ustekinumab.

JAK-STAT signaling pathway inhibition: a role for treatment of various dermatologic diseases.

Cutaneous inflammatory conditions such as psoriasis, atopic dermatitis, alopecia areata, vitiligo, and connective tissue diseases often remain a challenge to treat. Although there is an in-depth understanding of the clinical presentation of these diseases, much less is known regarding the pathophysiology. This has limited the effective treatment options for patients. A more detailed understanding of the pathogenesis of each disease will lead to newer targeted medications with less morbidity. Though there are different pathways involved in these diseases, the Janus Kinase (JAK)-Signal Transducer and Activator of Transcription proteins (STAT) signaling pathway is common to them all. Therefore, this review article endeavors to substantiate the immunopathology and clinical utility of the JAK inhibitors as treatments for different chronic inflammatory diseases of the skin.

JAK-STAT signaling pathway inhibition: a role for treatment of discoid lupus erythematosus and dermatomyositis.

BACKGROUND: Discoid lupus erythematosus (DLE) and dermatomyositis (DM) are inflammatory autoimmune diseases that manifest primarily in the skin but can be linked to systemic complications. Although there is an in-depth understanding of the clinical presentation of these two diseases, much less is known regarding the pathophysiology. This has limited the effective treatment options for patients. OBJECTIVE: An understanding of the pathogenesis of each disease in greater detail will lead to newer targeted medications with less morbidity. This review article endeavors to substantiate the use of new treatments which target the JAK-STAT pathway while elaborating on the immunopathology as well. METHODS: PubMed was searched for relevant review articles, case reports, case series reports, randomized clinical trials (RCTs), basic science articles. Appropriate key terms and MeSH terms were utilized in the search. Clinicaltrials.gov was used to find relevant and current clinical trials being conducted in DLE and DM patients. RESULTS: A review of the literature supports the proposal that though there are likely many components and pathways involved in the destruction of keratinocytes, the Th1 cell immune response and specifically the JAK-STAT signaling pathway is common to both DLE and DM. CONCLUSION: Although further study is needed to determine the efficacy and benefits of JAK inhibitors over conventional therapy, these medications should be considered in refractory cases.