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.
View Article and Find Full Text PDFFor 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.
View Article and Find Full Text PDFImportance: 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.
Pediatr Dermatol
November 2021
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.
View Article and Find Full Text PDFBackground: 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.
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.
View Article and Find Full Text PDFImportance: 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.
View Article and Find Full Text PDFThis cross-sectional analysis assesses the impact of sexual orientation on indoor tanning, sunless tanning, and sun-protection behaviors among men.
View Article and Find Full Text PDFA 79-year-old man with a recent diagnosis of acute myeloblastic leukemia received induction chemotherapy with daunorubicin and cytarabine, plus moxifloxacin and fluconazole prophylaxis. Approximately 2 weeks later, an asymptomatic eruption appeared on his trunk. He then developed a neutropenic fever and was started on aztreonam, vancomycin, voriconazole, and amikacin and was transferred to our facility from an outside hospital.
View Article and Find Full Text PDFPediatr Dermatol
January 2018
An 8-year-old boy who was initially diagnosed with plaque psoriasis failed management with topical therapies and skin biopsy confirmed the suspected diagnosis of juvenile pityriasis rubra pilaris (PRP). Pityriasis rubra pilaris is a rare inflammatory disorder of the skin characterized by follicular keratotic papules coalescing into plaques, along with palmoplantar keratoderma. Treatment modalities include topical and systemic therapies, although previous studies have not shown much benefit with methotrexate in children.
View Article and Find Full Text PDFBackground/objectives: Lamellar ichthyosis (LI) is a well-described phenotypic subtype of autosomal recessive congenital ichthyosis (ARCI). The condition typically presents at birth with collodion membrane and leads to thick, plate-like scaling of the skin throughout the body, alopecia, and prominent ocular manifestations. Ocular complications include bilateral cicatricial ectropion and lagophthalmos.
View Article and Find Full Text PDFParents (N = 392) completed a survey at the Minnesota State Fair in August and September 2015 addressing knowledge regarding the pathogenesis of atopic dermatitis (AD), basic skin care practices, and the perceived role of infection and food allergies in AD. Of participating parents, 82% identified food allergy or sensitivity in AD pathogenesis, whereas only 42% identified bacterial infection as an important factor in AD severity. Participants most often received education on skin health from their pediatrician (49%), followed by Internet-based sources (23%), rather than a dermatologist or pediatric dermatologist.
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