Aghazadeh, Nessa

Objectives: Systemic beta-blockers are highly effective for the management of infantile hemangiomas (IH), but little is known about infants who do not adequately respond. We aimed to describe the characteristics and outcomes of suboptimal responders to standard-dose systemic beta-blockers in infants with IH. Methods: This is a multicenter retrospective cohort study to evaluate demographics, IH lesion characteristics, and treatment specifics of infants with IH with suboptimal response to baseline standard-dose propranolol treatment. Clinical response was used to assess the outcome after a therapeutic change. Results: Twenty-five infants were included in this study. Seven (28%) had segmental IH, 16 (64%) focal, and 2 (8%) indeterminate. The IHs were located on the head and neck in 21 (84%) infants, with 24 (96%) having a deep or combined component. Therapy changes after standard-dose propranolol treatment failure, most commonly by escalating propranolol dose to ≥2.5 mg/kg/d (59%) or surgical interventions (29%), were associated with good therapeutic effects. Conclusion: Among suboptimal responders to standard-dose systemic propranolol, IHs with a deep or combined component and located on the head and neck were the most common. This retrospective study was largely descriptive in nature with additional exploratory analyses. However, it is still encouraging that for patients with a suboptimal clinical response, higher propranolol doses of ≥2.5–3 mg/kg/d or second-line treatments with surgical interventions or systemic steroids can be considered as potentially safe and effective alternatives. Level of evidence: Level 4 (case series).

ABSTRACTRubinstein‐Taybi syndrome (RTS) is a rare genetic disorder featuring craniofacial abnormalities, intellectual disability, and multi‐organ involvement, including increased risk of keloid formation, pilomatricomas, and hypertrichosis. Hidradenitis suppurativa (HS), a chronic inflammatory skin condition characterized by recurrent abscess formation and draining tunnels, has never been described in a patient affected by RTS. In this report, we detail the history of a 32‐year‐old male with RTS and refractory Hurley stage III HS and discuss the important considerations and risks of managing this unique patient population.

ABSTRACTBackgroundDrug‐induced hypersensitivity syndrome (DiHS), or drug reaction with eosinophilia and systemic symptoms (DRESS), is a delayed and severe immune response to certain medications. We investigated vancomycin‐induced DiHS/DRESS, notable for frequent and severe organ involvement, to describe its specific histopathology and the correlations between histopathologic and clinical findings.MethodsA retrospective review was conducted to identify patients between 2006 and 2022 who received vancomycin, had archived skin biopsy specimens, and were scored as having probable or definite DiHS/DRESS. Clinical features were retrospectively collected, and biopsy specimens were reviewed by a board‐certified dermatopathologist. A subset of histopathologic and clinical features was analyzed for statistical correlation.ResultsTwenty‐three patients met the inclusion criteria. Most biopsy specimens (87%) showed an eczematous reaction pattern; 17 (74%) showed a secondary reaction pattern. Spongiosis (87%) and neutrophilic infiltration (91%) were common epidermal characteristics. The dermal inflammatory infiltrate was frequently superficial (87%) and consistently included plasma cells (96%). Eosinophils were present in the dermis in 70% of cases. Parakeratosis negatively correlated with liver involvement and positively correlated with desquamative rash. Epidermal lymphocytes were negatively correlated with the RegiSCAR score.ConclusionsVancomycin‐associated DiHS/DRESS histopathology was characterized by a frequent eczematous reaction pattern, multiple coexisting reaction patterns, and epidermal neutrophilic infiltration.

ABSTRACT Nicotinamide adenine dinucleotide phosphate hydrate dehydratase (NAXD) and nicotinamide adenine dinucleotide phosphate hydrate epimerase (NAXE) deficiencies are rare autosomal recessive metabolic disorders characterized by severe neurological manifestations during infancy. In affected individuals, febrile illnesses can trigger progressive encephalopathy often accompanied by distinctive skin eruptions, resulting in high mortality rates. This study reviews the literature on NAXD/NAXE deficiencies, focusing on dermatological manifestations and their correlation with genotypic variations and treatment responses. A comprehensive literature search identified 45 patients with 31 pathogenic/likely pathogenic mutations, and a median age of onset at 1.16 years. Patients with NAXE deficiency exhibited a broader range of age of symptom onset compared to those affected with NAXD deficiency. Fever or infections were identified as the most common triggers for decompensation episodes. Skin manifestations were observed in 31% of patients with whole cell NAXD and NAXE deficiencies. The characteristic skin eruption comprises well‐demarcated erythematous and erosive plaques progressing to blistering and necrosis, predominantly affecting flexural surfaces. The mortality rate was 78%, with survivors experiencing varying degrees of neurological sequelae. Niacin/nicotinamide supplementation resulted in improvements in skin lesions and survival rates. The review underscores the critical role of dermatologists in early diagnosis and intervention of NAXE and NAXD deficiencies. Recognizing characteristic skin manifestations is essential, particularly in patients with acute neurological decline following infections or vaccinations. Early intervention with specific supplements shows promise; however, further research is needed to establish standardized treatment protocols and enhance patient outcomes.

AbstractA 61‐year‐old female presented with progressive plaques on the left forehead and right labia.

Abstract Actinic prurigo is a rare photodermatosis characterized by pruritic papulonodular lesions. Treatment is challenging, especially in children, as sun protection strategies need to be rigorously implemented and symptoms often persist throughout the year. Herein, we present a case of actinic prurigo in an 8‐year‐old patient with rapid and successful relief with baricitinib.

Background Delivery of dermatologic care through telemedicine was accelerated by the COVID-19 pandemic. We sought to analyze the teledermatology experience across Mayo Clinic's health care system to identify strengths and limitations of teledermatology. Methods Electronic health records of dermatology televisits were reviewed from multiple U.S. Mayo Clinic sites from January 2020 through January 2021. Results A total of 13,181 dermatology televisits were conducted in 6468 unique patients. Patients were primarily female (60.2%), and mean age of all patients was 34.1 years. Synchronous / live video conferencing visits were the most common (40.0%) telecare modality. Synchronous / live audio conferencing and asynchronous / store-and-forward visits comprised 33.0% and 27.0% of appointments. In total, 3944 televisits (29.9%) were successfully concluded via a single appointment. An in-person appointment was needed for 1693 patients (26.2%) after their initial televisit. For patients with a single televisit, synchronous / live video conferencing was the most common virtual modality (58.0% vs 32.2% of patients with multiple visits, p < 0.001). Patients needing in-person follow-up visits were slightly older than those who did not (mean [SD], 38.8 [22.3] vs 35.0 [23.6] years; p < 0.001) but without any sex-based difference. Around one-third of patients needed an in-person follow-up visit after their initial asynchronous / store-and-forward visit which was higher when compared with synchronous / live audio and video conferencing. Conclusion Single dermatology televisits effectively managed nearly one-third of patients who did not require in-person follow-up. An initial synchronous / live video conferencing was more likely to yield a single clinical encounter, whereas asynchronous / store-and-forward visits required more in-person follow-up. Future studies are required that focus on dermatology-specific cost, diagnoses, access, quality of care, and outcomes.