Blueberry muffin baby secondary to ganglioneuroblastoma.

We report the case of a neonate presenting with the clinical features of blueberry muffin syndrome caused by ganglioneuroblastoma, a rare variant of neuroblastoma. This syndrome may be the only visible manifestation of a neonatal tumor and highlights the importance of early recognition and initiation of therapy to reduce mortality.

Inter- and intra-observer variability in the selection of therapy for infantile hemangiomas among pediatric dermatologists in Spain.

BACKGROUND: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae. OBJECTIVE: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH. METHODS: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry. Twenty-seven pediatric dermatologists were invited to participate in a survey with 50 clinical vignettes randomly selected within the registry. Each vignette contained a picture of an infantile hemangioma with a clinical description. Raters chose therapy among observation, topical timolol, or oral propranolol. The same survey reordered was completed 1 month later to assess intra-rater agreement. Vignettes were stratified into hemangioma risk categories following the Spanish consensus on IH. The agreement was measured using kappa statistics appropriate for the type of data (Gwet's AC1 coefficient and Gwet's paired t test). RESULTS: Twenty-four dermatologists completed the survey. Vignettes represented 7.8% of the Spanish hemangioma registry. The inter-rater agreement on the treatment decision was fair (AC1  = 0.39, 95% confidence interval [CI]: 0.30-0.47). When stratified by risk category, good agreement was reached for high-risk hemangiomas (AC1  = 0.77, 95% CI: 0.51-1.00), whereas for intermediate- and low-risk categories, the agreement was only fair (AC1 0.31, 95% CI: 0.16-0.46 and AC1  = 0.38, 95% CI: 0.27-0.48, respectively). Propranolol was the main option for high-risk hemangiomas (86.4%), timolol for intermediate-risk (36.8%), and observation for low-risk ones (55.9%). The intra-rater agreement was good. The inter-rater agreement between pediatric dermatologists on the treatment of IH is only fair. Variability was most significant with intermediate- and low-risk hemangiomas.

Evaluation of atopy schools for parents.

INTRODUCTION: Atopic dermatitis is a highly prevalent chronic disorder. Therapeutic education in diseases of this kind is essential in order to improve patient management and prognosis. A study was conducted regarding parent satisfaction following educational sessions in an Atopy School organized by a multidisciplinary team. MATERIAL AND METHODS: E-mail surveys with variables scored by means of a Likert scale were administered among the parents participating in the workshops organized by the Atopy School. The educational program comprised four sessions with a duration of 4 hours. RESULTS: Ninety-five percent of the parents were satisfied after participating in the workshops, and were of the opinion that the therapeutic education received was useful for improving control of the illness of their children. Likewise, 85% were satisfied or very satisfied with the help received in the sessions for control of the disease during flare-ups, and 90% considered the data and advice received in the sessions to be of use in improving quality of life of both the children and the family as a whole. CONCLUSIONS: The Atopy School afforded caregiver empowerment, and the parents were satisfied and felt more secure in dealing with the disease of their children-thereby improving the prognosis and quality of life.

Cutaneous Manifestations of Granulomatosis with Polyangiitis: A Case Series Study.

The aim of this study was to determine the prevalence and type of cutaneous manifestations which occur in patients with granulomatosis with polyangiitis and to explore the potential association between cutaneous and systemic involvement in these patients. A retrospective case series study was designed, including all granulomatosis with polyangiitis cases diagnosed between 2010 and 2018 at the Hospital Universitario Virgen de las Nieves. Thirty-nine patients with granulomatosis with polyangiitis were identified, of which 53.85% presented cutaneous manifestations. In decreasing order of frequency, the types of cutaneous problems observed included: palpable purpura, mucocutaneous ulcers, subcutaneous nodules, pyoderma gangrenosum-like ulcers, digital necrosis, papulonecrotic lesions and livedo reticularis. Patients with palpable purpura presented a higher frequency of renal involvement (p = 0.008). Cutaneous manifestations of granulomatosis with polyangiitis may facilitate early disease diagnosis. Likewise, a manifestation such as palpable purpura may be a predictor of kidney damage.

A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome).

The presence of eczema and elevated IgE in pediatric patients does not always indicate atopic dermatitis. Rare genodermatoses may share this clinical presentation and should be considered in the differential diagnosis for patients with congenital immunodeficiency and severe refractory dermatitis. We describe a case of severe dermatitis, allergies, and metabolic wasting syndrome, due to a novel mutation in DSG1 gene, an additional example of this uncommon genetic disorder of desmosome function.

Vascular malformations syndromes: an update.

PURPOSE OF REVIEW: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. RECENT FINDINGS: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. SUMMARY: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel-Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel-Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results.

Use of topical rapamycin in the treatment of superficial lymphatic malformations.

BACKGROUND: The superficial lymphatic component of vascular malformations poses a significant treatment challenge. It is responsible for the majority of symptoms presented, and to date, there is no consensus regarding treatment. OBJECTIVE: To evaluate the effectiveness of topical rapamycin in treating superficial lymphatic malformations (LM). METHODS: A case series study was performed of patients with superficial LM, treated with topical rapamycin. The clinical characteristics of patients and the concentration and application mode of the drug were recorded. The changes in the signs and symptoms observed and associated adverse effects were noted and analyzed. RESULTS: The study population consisted of 11 patients of an average age of 10.5 years. All were treated with topical rapamycin: 6 patients with a 1% concentration, 1 with a 0.8% concentration, and 4 with a 0.4% concentration. Changes in the clinical appearance of the lesions were observed in all patients. The associated symptoms, present in 9 of 11 patients, improved in every case. The mean follow-up time was 16.1 months. LIMITATIONS: This study is retrospective, with a small sample size and considerable heterogeneity of lesions and treatment approaches. CONCLUSION: Treatment with topical rapamycin modifies the clinical appearance and alleviates symptoms of superficial LM.

Comparative Study of Shrinkage in Human Skin, Artificial Human Skin, and Mouse Skin.

INTRODUCTION: The shrinkage of surgical specimens (SS) is known in human skin (HS) but has not been studied in an artificial skin (AS) or mouse skin (MS). OBJECTIVES: To quantify the degree of shrinkage of SS and establish its timing in HS and an in vitro and animal model to explore the possible causes of this phenomenon. METHODOLOGY: We collected 100 SS of HS, 50 SS of AS synthesized with fibrin-agarose biomaterials and 21 SS of MS. The width and length of specimens were measured before the surgical excision (pre-SE), at 5 minutes postsurgery (ex vivo), and after 24 hours of fixation in formalin (postfixation). Histological staining was performed to analyze the differences between HS, AS, and MS that may explain the differences in shrinkage. RESULTS: Between pre-SE and postfixation, the width and length shrank by 16.1% and 17.1% in HS, 14.5% and 8.5% in AS, and 26.5% and 23.1% in MS (P < 0.01), respectively. Shrinkage largely occurred between pre-SE and ex vivo. Cells and interstitial fibers were scant in AS and abundant in MS. CONCLUSIONS: Almost all of the shrinkage occurred during the first 5 minutes postsurgery. According to the AS model findings, 53.6% of SS shrinkage would be explained by the action of dermal fibers and other cellular components of the dermis.

Study of shrinkage of cutaneous surgical specimens.

BACKGROUND: The assessment of discrepancies between surgical and histopathological measurements of specimens is important in order to avoid repeat surgery and unnecessary follow-ups. OBJECTIVES: The objective of this study was to quantify the degree, time and influential factors of shrinkage of cutaneous surgical specimens. METHODS: Data of 111 patients were gathered on age, sex, localization, diagnosis and specimen width and length before surgical excision (in vivo), at 5 min postsurgery (ex vivo) and after 24 h of fixation in 10% buffered formalin (postfixation). RESULTS: The length and width were significantly lower in the postfixation vs. in vivo specimens, with a mean shrinkage of 17.0% in the length (p < 0.01) and 9.5% in the width (p < 0.01). 81.8% and 92.3% of the total shrinkage in length and weight was observed between in vivo and ex vivo measurements. No significant differences were observed as a function of sex, age or diagnosis. A greater shrinkage in length between in vivo and postfixation was found in specimens from the trunk. LIMITATIONS: The most of the skin samples were diseased. CONCLUSION: The largest proportion of specimen shrinkage occurred within 5 min of its excision and the shrinkage was greater in specimens from the trunk.

Oral Cyclosporine Weekend Therapy: A New Maintenance Therapeutic Option in Patients with Severe Atopic Dermatitis.

Cyclosporine A (CyA) is a systemic therapy used to control severe atopic dermatitis (AD) in children, but its use may be associated with serious side effects. Intermittent short-course therapy has been used to minimize these risks without the loss of clinical benefits. We conducted a 20-week study using intermittent short-course CyA therapy in five patients with severe AD and a Scoring Atopic Dermatitis (SCORAD) score >40. The result was a reduction in the cumulative dose of CyA and serum CyA level, which allows for a longer duration of CyA treatment and decreases the risk of relapse in patients with severe AD.

Pseudotumor cerebri associated with cyclosporine use in severe atopic dermatitis.

Cyclosporine use can cause neurologic complications in 0.5% to 35% of cases, although the appearance of pseudotumor cerebri (PC) is exceptional. PC secondary to the use of cyclosporine is described mainly in individuals who have received a bone marrow transplant. We report the first case, to our knowledge, of PC secondary to the use of cyclosporine in a child with severe atopic dermatitis, with satisfactory resolution and without vision sequelae.

Nitroglycerin patch for the treatment of chondrodermatitis nodularis helicis: a new therapeutic option.

Chondrodermatitis nodularis helicis (CNH) is an inflammatory process that affects the skin and cartilage of the ear. At present, there are many treatment options, although they are not always effective. Based on previous studies where nitroglycerin 2% gel was used, we propose the use of nitroglycerin patches. The purpose of this study was to evaluate the effectiveness of nitroglycerin patches in treating CNH. We performed a prospective study in 11 patients diagnosed with CNH treated with nitroglycerin patches 5 mg, 12 hours a day for 2 months. The therapeutic effectivity was determined by the improvement in the appearance and symptoms of the lesion. Seven of 11 patients (63.6%) had a complete response. One of 11 patients (9%) did not respond completely and surgical treatment was performed. Two of 11 patients (18.1%) stopped the treatment because of headache. One of 11 patients (9%) did not complete the treatment because the said patient forgot to apply the patch every night. Transdermal nitroglycerin has demonstrated efficacy in the treatment of the symptoms and lesional appearance of CNH noninvasive manner. The success rate is comparable with other published methods and the rate of adverse effects is acceptable.

ABCC1, ABCG2 and FOXP3: Predictive Biomarkers of Toxicity from Methotrexate Treatment in Patients Diagnosed with Moderate-to-Severe Psoriasis.

BACKGROUND: Methotrexate (MTX) is one of the most extensively used drugs in the treatment of moderate-to-severe psoriasis (PS). However, it frequently must be suspended owing to the toxicity in certain patients. OBJECTIVE: To evaluate the influence of ABCC1, ABCG2, and FOXP3 in the development of MTX toxicity in PS. METHODS: Retrospective cohort study with 101 patients. Five single-nucleotide polymorphisms (SNPs) were genotyped using real-time polymerase chain reaction with TaqMan probes. RESULTS: Patients carrying ABCC1 rs2238476-AG genotype (AG vs. GG: OR = 8.04; 95% CI = 1.48-46.78; p = 0.015); FOXP3 rs376154-GT and GG genotypes (GT vs. TT/GG: OR = 3.86; 95% CI = 1.17-13.92; p = 0.031) and ABCG2 rs13120400-T allele (T vs. CC: OR = 8.33; 95% CI = 1.24-164.79; p = 0.059) showed a higher risk of developing more than one adverse effect. The toxicity analysis by subtypes showed that the ABCC1 rs2238476-AG genotype (AG vs. GG: OR = 8.10; 95% CI = 1.69-46.63; p = 0.011) and FOXP3 rs376154-GT genotype (OR = 4.11; 95% CI = 1.22-15.30; p = 0.027) were associated with the appearance of asthenia. No association of the other ABCC1 polymorphisms (rs35592 and rs246240) with MTX toxicity was found. CONCLUSION: ABCC1, ABCG2, and FOXP3 polymorphisms can be considered to be risk biomarkers of toxicities in PS patients treated with MTX.

Dupilumab Improves Skin Barrier Function in Adults with Atopic Dermatitis: A Prospective Observational Study.

Epidermal barrier dysfunction plays an important role in atopic dermatitis (AD). The difficulty of objectively assessing AD severity and the introduction of new biologicals into clinical practice highlight the need to find parameters to monitor clinical outcomes. The aim of this study is to evaluate the impact of dupilumab on skin barrier function and compare it with other treatments in patients with AD. A prospective observational study was conducted in adults with AD treated with topical corticosteroids (TCS), cyclosporine, or dupilumab. The main outcome measures after 16 weeks of treatment were Eczema Area and Severity (EASI)-50 (50% improvement in EASI), and transepidermal water loss (TEWL)-50 (50% improvement in TEWL). Forty-six patients with AD were included in the study. The proportion of patients who achieved EASI-50 at week 16 was significantly higher in patients receiving dupilumab (81.8% vs. 28.6% vs. 40%, p = 0.004). In eczematous lesions, TEWL decreased in patients receiving dupilumab (31.02 vs. 12.10 g·h−1·m−2, p < 0.001) and TCS (25.30 vs. 14.88 g·h−1·m−2, p = 0.047). The proportion of patients who achieved TEWL-50 at week 16 was higher for dupilumab than for cyclosporine or TCS. Temperature only decreased in the dupilumab group. Stratum corneum hydration increased in eczematous lesions and non-involved skin only in patients with dupilumab. In conclusion, dupilumab improves skin barrier function in patients with AD better than TCS or cyclosporine, both in eczematous lesions and in non-lesioned skin.

Epidermal Barrier Function and Skin Homeostasis in Atopic Dermatitis: The Impact of Age.

Skin is damaged in atopic dermatitis (AD) patients. Age is also believed to have a negative effect on epidermal barrier function. The aim of this study was to investigate skin barrier function changes with age in AD patients. A cross-sectional study was conducted including 162 participants, 81 AD patients and 81 healthy volunteers. Skin barrier function parameters, such as transepidermal water loss (TEWL), erythema, temperature, stratum corneum hydration (SCH), pH, and elasticity, were evaluated. Healthy volunteers were evaluated on the volar forearm. AD patients were measured on two regions: on an eczematous lesion on the volar forearm and on a non-involved area 5 cm from the affected area. TEWL was lower on healthy skin than uninvolved AD skin (9.98 vs. 25.51 g·m-2·h-1, p < 0.001) and AD eczematous lesions (9.98 vs. 28.38 g·m-2·h-1, p < 0.001). SCH was lower on AD eczematous lesions than uninvolved AD skin (24.23 vs. 39.36 AU, p < 0.001) and healthy skin (24.23 vs. 44.36 AU, p < 0.001). Elasticity was lower on AD eczematous lesions than uninvolved AD skin (0.69 vs. 0.74, p = 0.038) and healthy skin (0.69 vs. 0.77, p = 0.014). A negative correlation was found between age and elasticity in all the population (r = -0.383, p < 0.001). This correlation was stronger in AD patients (r = -0.494, p < 0.001) than in controls (r = -0.266, p = 0.092). After conducting a linear regression model in AD patients adjusted by age, sex, and SCORing Atopic Dermatitis (SCORAD), it was found that elasticity was impaired by an increasing age (ß = -0.004, p < 0.001) and a higher SCORAD (ß = -0.003, p < 0.001). The skin barrier function is impaired by age and AD, reflected mainly in poor elasticity values in older AD patients.

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome.

Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impairment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases.