IMPORTANCETreatment of infantile hemangioma (IH) with topical timolol in the first 2 months of life (early proliferative phase) may prevent further growth and the need for treatment with oral propranolol. To our knowledge, no studies have determined whether beginning early treatment with timolol for IH is better than in other proliferative stages.OBJECTIVE To evaluate the efficacy and safety of timolol maleate solution, 0.5%, for the early treatment of IH in infants younger than 60 days.DESIGN, SETTING, AND PARTICIPANTS This multicenter, randomized, double-blind, placebo-controlled, phase 2a pilot clinical trial included patients aged 10 to 60 days with focal or segmental hemangiomas (superficial, deep, mixed, or minimal/arrested growth). Patients were randomly assigned to treatment with topical timolol maleate solution, 0.5%, or placebo twice daily for 24 weeks. Changes in lesion size (volume, thickness) and color were evaluated from photographs taken at 2, 4, 8, 12, 24, and 36 weeks. Vital signs and adverse effects were recorded at each visit. The study was carried out from November 2015 to January 2017, and data analyses were completed in September 2019. MAIN OUTCOMES AND MEASURESThe primary outcome of complete or nearly complete IH resolution and the secondary outcomes of changes in lesion thickness, volume, and color were evaluated by a blinded investigator. RESULTSOf the 69 patients recruited, the mean (SD) age was 48.4 (10.6) days; 55 (80%) were female; and 51 (74%), 11 (16%), 6 (9%), and 1 (1%) had superficial, mixed, abortive, or deep IHs, respectively. The IHs were localized, segmental, or indeterminate in 60 (87%), 7 (10%), and 2 (3%) patients, respectively. The IHs were located on the head and/or neck (n = 23 [33%]) or other body sites (n = 46 [67%]). The study was completed by 26 of 33 (79%) patients receiving timolol and 31 of 36 (86%) receiving placebo. There were no significant differences between timolol and placebo for complete or nearly complete IH resolution at 24 weeks (n = 11 [42%] vs n = 11 [36%]; P = .37). The odds ratio of complete or almost complete response vs no response at week 24 was 1.33 (95% CI, 0.45-3.89). There were no between-group differences in IH size (volume, thickness). An improvement in color was observed at week 4 in the timolol group, and timolol was well tolerated with no systemic adverse effects. CONCLUSIONS AND RELEVANCEIn this randomized clinical trial, results demonstrated that topical timolol is well tolerated for the treatment of early proliferative IH but provides limited benefit in lesion resolution when given during the early proliferative stage.
Background and objective Body dysmorphic disorder (BDD) is a mental disorder that is difficult to diagnose, causes a lot of suffering and is more prevalent in dermatology patients than in the general population. Our objective was to screen for possible cases of BDD in patients with acne and to determine the prevalence according to DSM‐IV and DSM‐5 criteria, as well as to analyse the relationship between dermatological and sociodemographic variables. Methods A total of 245 patients diagnosed with acne in 11 dermatological centres in Spain were included in the study by members of the Aragon Psychodermatology Research Group and Spanish Research Group of Psychiatric Dermatology. We used the Body Dysmorphic Disorder Questionnaire (BDDQ) as a screening tool. Results In our sample, we obtained a prevalence for BDD of 10.6% (95% CI: 7.6–13.6%). The prevalence was the same with DSM‐IV or DSM‐5 criteria. Possible cases of BDD were predominantly women (P = 0.021), and 56% had non‐inflammatory lesions vs. 30% of negative patients (P = 0.002). Positive patients as possible cases of BDD spent more than two hours on average a day worrying about their appearance. Most people only worried about one part of their body (86%), and in 95% of the cases, the part of their body that worried them was the face. The three most frequent compulsive behaviours in patients who screened positive for BDD were mirror checking (90.7%), camouflaging (79.1%) and using make‐up (72.1%). Conclusions As a consequence of the high prevalence of possible cases of BDD in patients with acne observed in our study, there is a need for dermatologists to screen for BDD so that they can be referred to a mental health unit to confirm the diagnosis and be offered treatment to reduce the progression of psychosocial deterioration and the development of comorbid disorders.
Generalized pustular psoriasis (GPP) represents the rarest form of psoriasis, which may be potentially fatal. In the last decade, (likely) pathogenic variants in the IL36RN, CARD14 and AP1S3 genes have been associated with monogenic GPP forms. Despite these advances, the genetic basis of most patients with GPP remains unidentified. Treatment of GPP patients is often difficult, with no consensus about the best available options to date. We report herein an infant with severe GPP in whom the disease started at the age of 2 months. Genetic investigations identified a heterozygous pathogenic variant in the IL36RN gene associated with a heterozygous variant of uncertain significance in the CARD14 gene. After previous treatment failures with acitretin, cyclosporin and anakinra, treatment with the interleukin-17 antagonist secukinumab resulted in a dramatic and prompt positive response that persisted at 12-month follow up. According to our experience, we believe secukinumab can be an effective and safe treatment for pediatric patients with GPP even before 1 year of age.
Characteristic lower lip capillary malformation of CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformations of the face and neck, Asymmetry, and Partial or generalized Overgrowth) may also occur as an isolated lesion or with only minor anomalies, supporting the concept that there is a spectrum of abnormalities in CLAPO syndrome. Preliminary studies have demonstrated mosaic activating mutations in PIK3CA.
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