Precision Dermatology: A Review of Molecular Biomarkers and Personalized Therapies.

The evolution of personalized medicine in dermatology signifies a transformative shift towards individualized treatments, driven by the integration of biomarkers. These molecular indicators serve beyond diagnostics, offering insights into disease staging, prognosis, and therapeutic monitoring. Specific criteria guide biomarker selection, ensuring attributes like specificity, sensitivity, cost feasibility, stability, rapid detection, and reproducibility. This literature review, based on data from PubMed, SCOPUS, and Web of Science, explores biomarkers in Hidradenitis Suppurativa (HS), Psoriasis, Atopic Dermatitis (AD), Alopecia Areata (AA), Vitiligo, and Chronic Spontaneous Urticaria (CSU). In HS, TNF-α, IL-1ß, and MMPs serve as biomarkers, influencing targeted therapies like adalimumab and anakinra. Psoriasis involves biomarkers such as TNF-α, IL-23, and HLA genes, shaping treatments like IL23 and IL17 inhibitors. AD biomarkers include ECP, IL-4, IL-13, guiding therapies like dupilumab and tralokinumab. For AA, lipocalin-2, cytokines, and genetic polymorphisms inform JAK inhibitors' use. Vitiligo biomarkers range from cytokines to genetic markers like TYR, TYRP1, guiding treatments like JAK inhibitors. CSU biomarkers encompass IgE, cytokines, and autologous serum tests, influencing therapies like omalizumab and cyclosporine. Comparing conditions, common proinflammatory markers reveal limited specificity. While some biomarkers aid diagnosis and standard treatments, others hold more scientific than clinical value. Precision medicine, driven by biomarkers, has shown success in skin malignancies. Future directions involve AI-powered algorithms, nanotechnology, and multi-omics integration for personalized dermatological care.

Mucocutaneous manifestations of congenital syphilis in the neonate: A review of a surging disease.

Syphilis is an infection caused by Treponema pallidum. It is most commonly acquired through sexual transmission, although it can also be transmitted vertically across the placenta, resulting in congenital syphilis. Even with improved public health measures, testing, and treatment capabilities, primary, secondary, and congenital syphilis have all surged since 2012. Given this marked increase in both incidence and prevalence, here we present a comprehensive review of the clinical presentation, treatment, and management of congenital syphilis, with particular consideration given to the mucocutaneous manifestations of the disease in neonates.

A Retrospective Study of Tinea Capitis Management in General Pediatric Clinics and Pediatric Emergency Departments at 2 US Centers.

We examine management practices of tinea capitis at 2 US academic centers. The majority of providers treated tinea capitis with the oral antifungal agent griseofulvin and did not obtain a fungal culture. We recommend newer antifungal treatments such as terbinafine and fluconazole and obtaining a fungal culture for effective treatment.

Tinea capitis: advances and a needed paradigm shift.

PURPOSE OF REVIEW: Tinea capitis, a superficial infection of the scalp, is the most common pediatric dermatophyte fungal infection worldwide and is particularly common in the USA in low-income, low-resource settings. There are still gaps in knowledge and heterogeneities in practice in terms of diagnostic and management strategies. Furthermore, there are no clinical guidelines for management and treatment of tinea capitis in the USA. This review aims to summarize recent advances, recommend optimal management for the practicing pediatrician, and identify areas for future research for tinea capitis. RECENT FINDINGS: Trichophyton tonsurans infections are best treated with terbinafine and Microsporum canis infections are best treated with griseofulvin. Trichophyton tonsurans is the predominant cause of tinea capitis in the USA, although the main gold standard of treatment in the USA is griseofulvin. Dermatophyte antifungal resistance is an active area of investigation but seems to not be of current concern for tinea capitis in the USA. SUMMARY: We recommend all clinical providers ascertain the causative organism in fungal infection, either through fungal culture or newer methods which may become more readily available and cost-effective in the future, such as polymerase chain reaction assay. We also recommend terbinafine as first-line treatment of tinea capitis, with adjustment as necessary after species identification.

Anesthetic techniques used for pulsed dye laser (PDL) in the treatment of port-wine birthmarks: An exploratory assessment of current attitudes and practice patterns among pediatric dermatologists in the United States.

BACKGROUND/OBJECTIVES: Pulsed dye laser (PDL) is the gold standard for treating port-wine birthmarks (PWBs), but no consensus exists regarding anesthetic techniques when performing PDL for PWB. Given potential adverse neurocognitive effects from general anesthesia (GA) exposure in early childhood, we sought to establish current attitudes and practice patterns regarding anesthesia when treating PWB with PDL. METHODS: An electronic REDCap survey was distributed to members of the Pediatric Dermatology Research Alliance (PeDRA) and the Society for Pediatric Dermatology (SPD) via email. Aggregate, anonymized results were reported. RESULTS: Among 47 respondents, the majority (83%) identified as board-certified pediatric dermatologists. When treating children <4 years old, 70% endorsed some use of topical anesthesia. Although 87% reported concerns about long-term side effects on development and school performance affecting their pursuit of GA, 61% reported use of GA for PDL in children <4 years old. All 4 (100%) respondents whose PDL was located in the operating room (OR) setting reported use of GA, compared to 6 of 17 (35%) respondents whose PDL machine was not located in the OR. Providers were more likely to use GA in patients between 1 and 4 years old (70%) compared to those <1 year old (2%). CONCLUSIONS: Diverse practice patterns reiterate the need for a standardized anesthetic approach for PDL in young children and continued research on other factors (ie, location/accessibility of PDL, lesion size) impacting anesthesia choices. Given potential neurodevelopmental risks associated with GA, specific guidance to effectively minimize its use in favor of topical anesthetics should be provided.

Heterogeneous cutaneous findings associated with intrauterine HSV infection: A case series and literature review.

BACKGROUND/OBJECTIVE: Herpes simplex virus (HSV) infection acquired in utero may present with non-vesicular dermatologic findings in affected newborns, which may pose a diagnostic dilemma. We aimed to describe and assess the range of non-vesiculobullous skin lesions that neonates with intrauterine HSV infection may manifest at birth. METHODS: We collected a multicenter case series and conducted a literature review of neonates with intrauterine HSV infection presenting with non-vesiculobullous cutaneous lesions. RESULTS: Twenty-two cases were reviewed, including six managed clinically by members of our team and 16 identified in the literature. Four (18%) were associated with twin pregnancies, and thirteen (59%) cases occurred in premature infants. Only four (18%) mothers had a documented history of HSV infection. Twelve (55%) cases resulted in poor outcomes, including long-term neurologic sequelae or death. Cutaneous manifestations included erosions, ulcerations, crusted papules or plaques, calcinosis cutis, excoriations, macules (erythematous, hypopigmented, or hyperpigmented), cutaneous atrophy, contractures, and bruising. About one-third of neonates developed new-onset vesicular lesions within a week of birth; in each of these cases, accurate diagnosis and therapy were delayed until appearance of vesicles. CONCLUSIONS: The range of dermatologic findings associated with intrauterine HSV is extremely broad, and the various morphologies present at birth likely reflect different stages of the ongoing evolution of an HSV infection that began in utero. Clinicians should have a low threshold for HSV testing in premature neonates born with atypical cutaneous lesions, since early detection and treatment of HSV may reduce morbidity and mortality from systemic complications.

Retrospective case series of increased oral propranolol dosage for infantile hemangiomas.

BACKGROUND: Infantile hemangiomas (IH) are the most common benign tumor of infancy. Although oral propranolol is currently first-line therapy, optimal dosing for treatment of IH remains debated. We sought to identify hemangioma characteristics associated with poor response to standard dosing (2 mg/kg/d) and to assess the therapeutic benefit of higher dosing. METHODS: Retrospective chart review was conducted of 559 patients with IH seen at Johns Hopkins between 2008 and 2018, of whom 245 (44%) were treated with propranolol. Baseline characteristics were compared between patients who received increased propranolol dosing (≥2.5 mg/kg/d) and those who remained on standard dose (2 mg/kg/d). Changes in the Hemangioma Activity Score (HAS) during the increased dosage period were scored by two trained, blinded pediatric dermatologists. RESULTS: Of 245 patients, 204 (83%) received standard 2 mg/kg/d propranolol dosing while 41 (17%) received a higher dose of ≥2.5 mg/kg/d. The most common location of IH in both groups was the face. In the increased dosage group, 85.4% of IH were of mixed or deep morphology with a mean greatest diameter of 4.6 cm. IH requiring increased dosing received longer courses of propranolol (mean of 389 vs. 282 days, P < .001) and underwent higher rates of excision by plastic surgery (26.8% vs. 5.9%, P < .001). Mean change in HAS over the period with dosage ≥2.5 mg/kg/d was minimal (-0.70; P < .001). CONCLUSIONS: Most recalcitrant IH were located on the face, larger in diameter, and of mixed or deep morphology. Patients had little improvement in HAS score with increased propranolol dosing implemented late in the treatment course with over one-fourth ultimately receiving surgical excision.

Antibiotic sensitivity and clinical outcomes in staphylococcal scalded skin syndrome.

Staphylococcal scalded skin syndrome causes widespread skin denudation primarily in infants < 1 year old. Selection of empiric therapy is complicated by rising rates of antibiotic resistance in community-acquired staphylococcal infections. Consistent with a previous study, this retrospective review found that SSSS-associated isolates were more likely to be clindamycin-resistant and less likely to be methicillin-resistant compared to overall staphylococcal infections. We favor cephalosporins and penicillinase-resistant penicillins (eg, oxacillin) for empiric management of SSSS, with consideration of adding MRSA coverage in communities with high MRSA prevalence or failure to improve following several days of treatment.

Mycosis fungoides in pediatric patients: Clinical features, diagnostic challenges, and advances in therapeutic management.

Mycosis fungoides (MF) is the most common primary cutaneous lymphoma in pediatric patients. Given the indolent nature of MF, symptoms often present in childhood but may not be diagnosed as MF until adulthood. Delayed diagnosis is associated with poor long-term prognosis. Thus, increased clinician recognition and accurate diagnosis of early-stage MF in pediatric patients is critically important. In this review, we summarize the clinical features of the most common pediatric MF subtypes and highlight important differences between pediatric and adult MF. Moreover, we reviewed all pediatric MF case series published between 2008 and 2018 to analyze treatment modalities and identify emerging therapies. As treatment of pediatric MF is complex, selection of therapy varies significantly depending upon the specific clinical characteristics, disease severity, and patients' preferences.

Hyperpigmentation after Foamed Bleomycin Sclerotherapy for Vascular Malformations.

The present report documents 6 patients who developed distinctive hyperpigmented skin lesions after bleomycin sclerotherapy for vascular malformations of the face, neck, and extremities. The patients ranged in age from 2 to 65 years and included both black and white and male and female patients. The bleomycin treatment dose varied from 15 to 45 U, with 5 of the 6 patients receiving foamed bleomycin. The hyperpigmented lesions were near the patient's vascular anomaly and attributable to postprocedural cutaneous pressure (eg, electrocardiographic [ECG] leads or tape). Hyperpigmentation faded slowly over time but was visible up to 3 years after the procedure.

The stigma of skin disease.

PURPOSE OF REVIEW: The effects of skin disease on stigmatization are important but understudied in the pediatric population. Given the highly visible nature of dermatologic conditions, stigmatization is a common problem that requires significant attention in patients with skin diseases. In this review, we examine the recent literature addressing stigmatization of patients suffering from common dermatologic diseases with the goal to increase clinician awareness of these issues and identify new avenues for future research. RECENT FINDINGS: A number of studies have examined the impact of skin disease on psychosocial well being and quality of life. Although some skin diseases are often overlooked medically and considered to be primarily cosmetic issues, the long-term consequences of skin diseases on psychosocial health, especially in pediatric patients, can be profound. SUMMARY: The precipitating factors for stigma vary widely depending on age, sex, and culture. In order to effectively reduce the impact of pediatric skin diseases on psychosocial health, physicians should be able to identify specific characteristics that may increase risks for stigmatization in chidlren. Carefully monitoring psychosocial development in pediatric patients with dermatological conditions in addition to proactively guiding patients and families to appropriate resources can benefit the child's development and overall long-term well being.

Periocular infantile hemangiomas: Characteristics, ocular sequelae, and outcomes.

OBJECTIVES: To identify clinical factors associated with complications of periocular infantile hemangioma (IH) and monitor improvement in complication rates post-treatment. METHODS: Retrospective cohort study. Eighty-nine patients diagnosed with periocular IH at a pediatric dermatology clinic of a tertiary care center between 2001 and 2013 were included with parental approval. Parents were interviewed by telephone between July and September of 2015, then again in January 2018 to inquire about ophthalmologic follow-up. Electronic medical records were reviewed from January 2001 through January 2018. RESULTS: Sixty percent of patients demonstrated ocular sequelae, including astigmatism (33%), visual axis obstruction (29%), nasolacrimal duct obstruction (7%), ptosis (4%), amblyopia (3%), and strabismus (1%). Compared with superficial IH, deep and mixed IH had higher odds, 3.4 (P = 0.025) and 3.8 (P = 0.034), respectively, of developing ocular sequelae. All patients with astigmatism prior to involution of IH received systemic therapy, with a significant post-treatment decrease in the proportion of patients with astigmatism (40% to 18%, P = 0.027). Three-quarters of patients experienced complete IH involution by time of enrollment in kindergarten. Fifty-one (57.3%) patients received formal ophthalmologic evaluation confirmed through chart review or phone interview, with average follow-up duration of 51.2 months (range: 1.9, 99.3). CONCLUSION: Deep and mixed IH were more likely to demonstrate ocular complications than superficial IH. Rate of astigmatism decreased with systemic therapy. Our study suggests that patients with periocular IH have a lower rate of amblyopia now compared with the prepropranolol era and emphasizes the importance of early treatment of periocular IH to prevent permanent visual sequelae.

Pityriasis lichenoides: Long-term follow-up study.

BACKGROUND/OBJECTIVES: Pityriasis lichenoides is an uncommon papulosquamous disorder of unknown etiology. The objective of this study was to review the clinical features and treatment responses of individuals with pityriasis lichenoides seen at a tertiary referral center. METHODS: Seventy-five patients diagnosed with pityriasis lichenoides between 1997 and 2013 were reviewed, and 46 had long-term follow-up via telephone interviews. RESULTS: Fifty (67%) patients were diagnosed with pityriasis lichenoides chronica, 22 (29%) with pityriasis lichenoides et varioliformis acuta, and 3 (4%) with mixed pityriasis lichenoides chronica and pityriasis lichenoides et varioliformis acuta features. Mean ± standard deviation age at onset was 12 ± 13 years (median 8 years). Disease duration was significantly shorter for patients with pityriasis lichenoides et varioliformis acuta (35 ± 35 months) than for those with pityriasis lichenoides chronica (at least 78 ± 48 months). At long-term follow-up, 23 of 28 (82%) patients with pityriasis lichenoides chronica and 3 of 16 (19%) with pityriasis lichenoides et varioliformis acuta had active disease. None progressed to lymphomatoid papulosis or cutaneous T-cell lymphoma. Ten of 23 active pityriasis lichenoides chronica cases had residual pigmentary change independent of race and lasted at least 35 ± 20 months. The most effective treatments were phototherapy (47% response rate), heliotherapy (33%), topical corticosteroids (27%), and antibiotics (25%). CONCLUSION: Pityriasis lichenoides is a predominantly pediatric disorder. The time course of pityriasis lichenoides chronica is significantly longer than that of pityriasis lichenoides et varioliformis acuta. Pityriasis lichenoides chronica may persist with pigmentary alterations in the absence of other signs of active inflammation. Treatment response is often limited, particularly for patients with pityriasis lichenoides chronica.

Demographic characteristics of teenage boys with horizontal striae distensae of the lower back.

BACKGROUND: This study examines the clinical characteristics and demographics of teenage boys with horizontal striae distensae of the lower back in an outpatient setting. METHODS: Retrospective medical chart reviews and telephone survey studies were completed on an outpatient cohort of 12 boys 11 to 17 years of age with a clinical diagnosis of transverse striae distensae of the lower back at a single-center, university-based, pediatric dermatology practice. We evaluated the clinical features of the striae, participant demographic characteristics, and past medical history. A review of the literature concerning risk factors was conducted using PubMed and Google Scholar. RESULTS: Of the 14 patients we contacted, 12 agreed to participate. The average age of onset for the striae was 14.3 years. All boys were above the 50th percentile in height at the time of onset. Eight (66.7%) reported a significant growth spurt before the appearance of the stretch marks. Most were asymptomatic. None of the boys had a history of unmonitored exogenous steroid use or prior infection with Bartonella henselae or Borrelia burgdorferi. Only one (8.3%) had a chronic medical condition. Eleven (91.7%) had at least one first-degree relative with striae distensae. CONCLUSION: Our results indicate that horizontal striae distensae of the lower back in adolescent boys is associated with a rapid growth spurt, tall stature, and family history of striae distensae. There is no association between this type of striae distensae and any chronic medical condition, bacterial infection, or exogenous steroid use. Thus a careful review of systems and counseling without further medical testing is reasonable management.

Itching at night: A review on reducing nocturnal pruritus in children.

The most common causes of chronic nocturnal itching in children are atopic dermatitis and psoriasis, with lichen simplex chronicus and prurigo nodularis contributing to lesser degrees. Despite the prevalence of nocturnal itching, its pathophysiology remains poorly understood. The most troubling consequence of itching at night is poor quality of sleep. Poor sleep quality in children with nocturnal itching has been linked to adverse neurocognitive, behavioral, and physiologic outcomes, including poor performance in school, attention deficit hyperactivity disorder, short stature, hypertension, obesity, and impaired immune function. There is no consensus on the best management of nocturnal itching in children. We conducted a review of the literature evaluating the efficacy of various treatment options for children with chronic nocturnal pruritus. Our review found three recently conducted randomized controlled trials and one case report demonstrating the efficacy of topical corticosteroids, oral melatonin, and clonidine in reducing nocturnal itching or improving sleep quality in children with nocturnal pruritus. Future research is needed to elucidate the pathophysiology of nocturnal itching to best develop targeted, effective treatment strategies.

Oesophageal epidermal naevi as a feature of systematised epidermal naevus syndrome.

Systematised epidermal naevi are hamartomas developing from neural ectoderm that can be quite extensive, typically with involvement of the face, neck, scalp, arms, legs and trunk. Involvement of the gastrointestinal tract is rare. We report on a 38-year-old Caucasian woman with systematised epidermal naevus syndrome who presented with previously undescribed involvement of the oesophagus, as well as the right side of her scalp, forehead, cheeks, chin, oral mucosa, neck, arms and trunk.

Current Trends in the Use of Two Combination Antifungal/Corticosteroid Creams.

Superficial fungal infections are among the most commonly managed skin problems by general practitioners. Although evidence shows combination antifungal/corticosteroid topicals are more expensive and less effective than single-agent antifungals, practitioners continue to prescribe combination agents. We examined current prescription trends of 2 combination antifungal/corticosteroid medications, Lotrisone and Mycolog-II.

Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome.

OBJECTIVE: To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability. STUDY DESIGN: Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously validated SWS neuroimaging score. A pediatric neurologist prospectively assigned previously validated neurologic severity scores, based on seizures, hemiparesis, visual field cut, and cognitive impairments. Three raters, blinded to clinical scores, independently graded the size of facial birthmark in each patient based on photographs. Their scores were averaged. Birthmark scores were compared with the imaging and neurologic severity results using nonparametric correlation analysis. RESULTS: Size of facial port-wine birthmark correlates with magnetic resonance imaging scores on the left and right sides (ρ = 0.57 and 0.66 [P < .001], respectively). Size is also positively associated with the neurologic severity rating for patients age 6 years and above (1-sided Fisher exact, P = .032). CONCLUSIONS: The size of facial port-wine birthmark in SWS brain involvement can be developed as a tool to predict neurologic severity of the disease.

Bullous Impetigo Rapid Diagnostic and Therapeutic Quiz: A Model for Assessing Basic Dermatology Knowledge of Primary Care Providers.

BACKGROUND/OBJECTIVES: Bullous impetigo (BI) is a common dermatologic condition, particularly in children, yet confusion regarding its diagnosis and treatment persists. This study measured pediatricians' ability to diagnose and appropriately treat BI and explored factors that might influence pediatricians' accuracy in managing BI. METHODS: We administered an expert-validated survey to 64 pediatrics house staff and faculty at three Johns Hopkins Medicine facilities. The survey requested demographic information, diagnoses for five "unknown" cases, and preferred treatments for localized and widespread BI. RESULTS: Overall, BI was diagnosed correctly 31.9% of the time. There was little difference between house staff and faculty performance, although faculty 50 years of age and older demonstrated better diagnostic acumen. Regarding treatment of localized BI, 92% of faculty members and 84.6% of house staff listed mupirocin as first- or second-line treatment. The second most common medication listed for localized BI was bacitracin. Regarding treatment of widespread BI, faculty listed cephalexin or clindamycin as first- or second-line treatment 56.0% of the time and house staff listed one of these two medications 51.3% of the time. Results for faculty 50 years of age and older were comparable. CONCLUSIONS: Improved pediatrician proficiency in the diagnosis and treatment of BI is needed for safe, cost-effective management. Physician age and experience appear to have a limited effect on the accuracy of BI diagnosis and management. Future educational efforts must be directed at trainees and their instructors.

Retrospective Study of Nasal Infantile Hemangiomas: Characteristics, Complications, and Outcomes.

BACKGROUND/OBJECTIVES: Nasal infantile hemangiomas (IHs) pose serious medical complications and psychosocial stress if tumor involution is incomplete or prolonged. The objective was to determine which IH characteristics are associated with complications and are predictive of outcome, assessed as the presence of IHs or residual skin changes upon kindergarten entry, to better manage these lesions and counsel families. METHODS: A retrospective chart review of all patients seen in the Division of Pediatric Dermatology at Johns Hopkins Medicine between 2001 and 2014 for nasal IHs (N = 89) was performed. A follow-up telephone interview with parents was conducted in June and July 2014. RESULTS: Complications were observed in 39% of patients. Segmental and indeterminate IHs were more likely to have complications than focal IHs (p = 0.01). Mixed IHs were more likely to ulcerate than deep or superficial IHs (p = 0.01). Eighty percent of patients had treatment and 19% had surgery. Although IHs regressed by kindergarten entry in 70% of patients, 78% of these patients had residual skin changes. Mixed and superficial IHs left more residua than deep IHs (p = 0.04). A statistical comparison of treatments with respect to outcome at kindergarten entry could not be made because subgroups were too small and heterogeneous. CONCLUSION: Nasal IHs had higher rates of complications and treatment than previous reports of IHs at all body sites. Lesions of segmental and indeterminate type and mixed depth should be identified as high risk and treated accordingly. Parents may be counseled that most nasal IHs involute by kindergarten but leave residua and that early referral for treatment may be important for the best outcome.