Keratitis ichthyosis deafness (KID) syndrome is a rare genodermatosis with a high risk of cutaneous malignancy and infections. Infections can induce pseudocarcinomatous epidermal hyperplasia, leading to erroneous diagnosis of squamous cell carcinoma. We present a pediatric case of KID syndrome with vegetating plantar and acral candidiasis and highlight the importance of correct biopsy technique and clinicopathologic correlation in appropriate management.
This is a case report of a 4-month-old full-term, fully breastfed boy who presented with a persistent periorificial and groin rash associated with poor weight gain and irritability. His serum zinc level was low. The mother's breast milk zinc level was found to be low despite her serum zinc levels being normal, confirming the diagnosis of transient neonatal zinc deficiency. Mutational analysis revealed a novel mutation in the mother's SLC30A2 gene, which encodes a zinc transporter expressed in mammary gland epithelial cells.
Lipoblastoma is a rare neoplasm of embryonal adipose tissue most often encountered on the trunk and extremities of children. It commonly presents as a painless subcutaneous soft tissue mass, but there are other unique clinical presentations that are important to recognize. The differential is broad and includes sarcoma, vascular tumor, myofibroma, and other fibromatoses. We present three varied, distinct cases of pediatric lipoblastoma and review the literature on this condition.
Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. The smallest lesions had no other features, whereas the largest lesions had some scaling, directly proportional to their dimension, and a central, clear, pink discoloration.
The occurrence of juvenile myelomonocytic leukemia (JMML), juvenile xanthogranuloma (JXG), and neurofibromatosis type 1 (NF1) together is relatively rare. Approximately only 20 cases have been reported in the literature. It is debated whether children with NF1 and JXG are at higher risk of developing JMML than children with NF1 alone. We present the case of a boy primarily diagnosed with NF1 with coexisting JXG who developed JMML at the age of 22 months. The clinical course from initial presentation to final diagnosis is detailed and the genetic features and hematologic characteristics are discussed. We report this case to underscore the importance of close monitoring of blood count and strict clinical follow-up in children presenting with concurrent NF1 and JXG and provide a possible explanation for this association.
Eight children treated for severe constipation with sennosides unexpectedly developed contact burns with blisters secondary to the use of these laxatives. All patients wore diapers, and the injuries occurred overnight. To avoid this side effect, we recommend that patients treated with sennosides, especially those in diapers, receive the medication at a time that allows for bowel movements to occur during the day and not overnight.
User satisfaction is an important factor associated with treatment adherence in chronic diseases including moderate-to-severe psoriasis.
To evaluate the efficacy, safety and patient acceptability of 300 and 150 mg secukinumab – a fully human anti-interleukin-17A monoclonal antibody that has demonstrated efficacy in the treatment of patients with moderate-to-severe plaque psoriasis – self-administered by autoinjection.
Patients with moderate-to-severe plaque psoriasis were randomized to secukinumab 300 mg, secukinumab 150 mg or placebo self-administered by autoinjection at baseline, Weeks 1, 2 and 3 and then every 4 weeks from Week 4 to Week 48. Efficacy responses [≥75/90/100% improvement in Psoriasis Area and Severity Index (PASI 75/90/100) and clear/almost clear skin by Investigator's Global Assessment 2011 modified version (IGA mod 2011 0/1)] were measured at Week 52. Patient-reported usability of the autoinjector was evaluated by the self-injection assessment questionnaire to Week 48.
At Week 52 with secukinumab 300 mg, PASI 75/90/100 and IGA mod 2011 0/1 responses were achieved by 81.4/64.1/38.8% and 69.6% of patients, respectively, by multiple imputation. At Week 52 with secukinumab 150 mg, PASI 75/90/100 and IGA mod 2011 0/1 responses were achieved by 75.2/57.4/33.1% and 60.2% of patients, respectively, by multiple imputation. Patient-assessed acceptability of the autoinjector remained high to Week 48. The proportion of patients experiencing adverse events was greater with secukinumab 300 mg (88.6%) than with secukinumab 150 mg (78.7%).
Self-administration of secukinumab using an autoinjector was associated with robust and sustained efficacy, a good safety profile and high acceptability.
