Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.

Development and Initial Validation of a Novel System to Assess Ichthyosis Severity.

IMPORTANCE: A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes. To our knowledge, there is currently no validated scale to objectively and systematically measure ichthyosis severity across the entire body. OBJECTIVE: To create and evaluate a comprehensive and user-friendly instrument to measure total body ichthyosis severity in adults and children. DESIGN, SETTING, PARTICIPANTS: In this qualitative study, ichthyosis experts participated in the content development of the Ichthyosis Scoring System (ISS). The body was divided into 10 regions, and Likert scales (0-4) were created to quantify scale and erythema, with extensive descriptors and photographic standards. An 83-image teaching set was created from photographs of participants with ichthyosis. Two cohorts of dermatologists (11 total) independently scored all test photographs twice to evaluate interrater and intrarater reliabilities. Participants were enrolled worldwide from referral centers and patient advocacy groups. Participants of all ages, races, and ethnicities were included in the creation of ISS, and dermatologists with varying experience and areas of expertise participated as raters to evaluate the ISS. The study was conducted from 2019 to 2021, and the data were analyzed in 2021. MAIN OUTCOMES AND MEASURES: Intraclass correlation coefficients determined overall reliabilities. RESULTS: Across both cohorts of 11 dermatologists in total, the intraclass correlation coefficients for total, scale and erythema scores were greater than 0.90 (95% CI, 0.77-0.97), greater than 0.91 (95% CI, 0.79-0.98), and greater than 0.88 (95% CI, 0.72-0.97), respectively. Most body sites exhibited moderate to good interrater reliabilities for scale and erythema. Intrarater reliabilities were good to excellent. CONCLUSIONS AND RELEVANCE: The results of this qualitative study demonstrate reproducibility and suggest that the ISS is a reliable system to measure global ichthyosis severity in adults and children.

Worsening ulceration of infantile hemangioma after initiation or escalation of propranolol.

For infantile hemangiomas (IH) requiring treatment, including those in high-risk locations or in the setting of ulceration, oral propranolol is first-line therapy. Here, we present three cases of infantile hemangioma with worsening ulceration following initiation or escalation of oral propranolol at standard doses.

Facial hypopigmentation in skin of color: An atypical presentation of lichen nitidus.

Lichen nitidus is a benign skin condition of unknown etiology that is classically described on the trunk, extremities, and genitalia as pinpoint flat-topped papules. In dark-skinned persons, the lesions may appear shiny or even hypopigmented. Lichen nitidus is less often described on the face. We describe a series of pediatric patients with skin of color who presented with the chief complaint of facial skin lightening and had associated clinical findings consistent with lichen nitidus.

Cutaneous findings in Fanconi anemia.

BACKGROUND: Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed because the early disease characteristics have not been well established. OBJECTIVE: To outline the spectrum of cutaneous findings seen in patients with FA. METHODS: A cross-sectional study in which patients with FA received a full-body skin examination. Patient characteristics are summarized with mean (SD) for continuous and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics. RESULTS: At least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented and hyperpigmented pigment macules. LIMITATIONS: Patients received a single assessment, so the number of pigmentary changes could not be assessed over time. CONCLUSIONS: Characteristic morphology of FA includes faint and ill-defined café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.

An outbreak of acute hemorrhagic papules on the posterior neck in children during the COVID-19 pandemic.

Within a two-week timespan in April 2020, multiple children presented with hemorrhagic macules, papules, and erosions localized to the posterior neck and occipital scalp. All of these patients were children of health care workers, with at least one confirmed COVID-19 exposure. The unique lesional morphology and the timing of onset led to SARS-CoV-2 antibody testing for all and biopsy of one child. Biopsy ultimately confirmed these lesions were consistent with arthropod bites, which coincided with an unprecedented surge in local populations of Simulium tuberosum, a biting gnat.

Examination of use and barriers for five sun protection strategies in parents and their children.

BACKGROUND/OBJECTIVES: Sun protection starting in childhood is an important means of skin cancer prevention. Factors associated with sunscreen use have been previously described. However, less is known about factors associated with children's utilization of non-sunscreen sun protection strategies. We sought to examine parent and child characteristics, parental use of sun protection, and barriers associated with children's use of five sun protection strategies: sunscreen, shirts with sleeves, wide-brimmed hats, sunglasses, and shade. METHODS: A cross-sectional survey of parents of children entering kindergarten through grade 8. Survey participants were recruited at the 2016 Minnesota State Fair. RESULTS: A total of 409 parents were surveyed. The most common sun protection strategies parents reported for their child were wearing a shirt with sleeves (69.9%) and using sunscreen (61.9%), while protection via shade, wide-brimmed hats, and sunglasses were reported by less than one-quarter of parents. For each individual strategy, parents' own use of that strategy was strongly associated with that strategy in their children. Lack of child cooperation was associated with decreased use of sunscreen, shirts with sleeves, and wide-brimmed hats. CONCLUSION: Significant room for improvement exists in childhood sun protection. Parents should especially be encouraged to use shade, wide-brimmed hats, and sunglasses as methods of protection for their children. Advising parents to model seeking shade, applying sunscreen, and choosing appropriate clothing and hats may improve sun safety practices.

Characteristics and Skin Cancer Risk Behaviors of Adult Sunless Tanners in the United States.

Importance: Incidence rates of nonmelanoma and melanoma skin cancers are increasing rapidly in the United States likely because of increased UV light exposure. Sunless tanning is a safe alternative to achieve tanned skin that might help reduce skin cancer incidence by deterring risky behaviors. However, limited data exist on the characteristics and associated skin cancer risk behaviors of sunless tanners in the United States. Objective: To assess the demographic characteristics and skin cancer risk behaviors of sunless tanners among adults in the United States. Design, Setting, and Participants: This secondary analysis of a cross-sectional study used data from the 2015 National Health Interview Survey, a population-based survey of the US noninstitutionalized civilian population. Participants included 27 353 men and women 18 years or older. Main Outcome and Measures: Participant demographics and skin cancer risk behaviors, including indoor tanning, skin cancer screening, sunburn, and sun protection behaviors. Results: Of the 27 353 adults (representative of more than 198 million US adults; mean [SE] age, 46.0 [0.2] years) studied, 6.4% (SE, 0.2%) reported sunless tanning. Factors associated with sunless tanning included being young, female, non-Hispanic white, college educated, nonobese, and sun sensitive, living in the western United States, and having a family history of skin cancer. Sunless tanners were more likely to report indoor tanning (adjusted prevalence odds ratio [aPOR], 3.77; 95% CI, 3.19-4.43; P < .001), recent sunburn (aPOR, 1.55; 95% CI, 1.31-1.83; P < .001), use of sunscreen (ß = 0.19; 95% CI, 0.09-0.28; P < .001), and having had a full-body skin examination (aPOR, 1.77; 95% CI, 1.51-2.08; P < .001) but less likely to seek shade (ß = -0.12; 95% CI, -0.19 to -0.04; P = .001) or use protective clothing when outdoors (long pants: ß = -0.18; 95% CI, -0.26 to -0.11; P < .001; long sleeves: ß = -0.10; 95% CI, -0.18 to -0.03; P = .01). Among indoor tanners, sunless tanners compared with those who did not sunless tan reported increased frequency of indoor tanning (mean [SE], 19.2 [1.9] vs 14.9 [1.2] sessions in the past 12 months; P = .04) but no differences in other skin cancer risk behaviors. Conclusions and Relevance: This study suggests that sunless tanning is associated with risky skin cancer-related behaviors. Longitudinal studies are needed to assess whether sunless tanning changes UV exposure behaviors to better determine whether sunless tanning represents an effective public health strategy to reduce rates of skin cancer in the United States.