Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene.

A female twin presented at birth with a collodion membrane on the hands and feet. After the membrane resolved over the first months of life, she was initially diagnosed with acral self-healing collodion membrane. However, she subsequently developed brown well-defined geometric scales on the trunk and extremities, consistent with ichthyosis. Genetic testing showed a heterozygous pathogenic variant in ELOVL4, a gene associated with syndromic ichthyosis with developmental delay, seizures, and spasticity. Although acral collodion membrane is considered to be a benign variant of the more generalized collodion, usually described as "self-healing," it may be the initial presentation of more diffuse ichthyosis.

Pediatric pyoderma gangrenosum associated with leukocyte adhesion deficiency type 1: A case report and review of the literature.

Pyoderma gangrenosum is a rare neutrophilic dermatosis characterized by painful skin ulcers with necrotic, undermined margins. In severe cases, particularly in pediatric patients, work-up for an associated autoimmune, inflammatory, malignant, or genetic disorder should be considered based on the clinical presentation. We report a unique case of pediatric pyoderma gangrenosum with a leukemoid reaction, secondary to an autosomal recessive leukocyte adhesion deficiency type 1.

Skin microbiome sampling in the preterm neonate.

Despite advances in our understanding of the human microbiome, there exist significant knowledge gaps in our understanding of the skin microbiome of the preterm neonate. Herein, we describe skin microbiome sampling of six preterm neonates at multiple timepoints, and compare the skin microbiome samples to environmental (crib/isolette swabs) and negative controls. Samples of the same type (skin, crib, control) were more similar than when compared by week or by patient.

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis-based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10-month-old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near-complete clearance with topical 5% simvastatin monotherapy twice daily.

Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth.

The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.

Duration of neonatal intensive care unit exposure associated with decreased risk of atopic dermatitis.

BACKGROUND/OBJECTIVES: Premature infants have lower rates of atopic dermatitis (AD) compared with full-term infants, though little is known about the factors contributing to this association. We explored the infant and environmental factors that may contribute to the association between prematurity and atopic dermatitis, including mode of delivery, birthweight, gestation, and duration of stay in the neonatal intensive care unit (NICU). METHODS: This was a single-center retrospective study. Independent samples t tests or chi-square tests were used to compare groups on continuous and categorical variables, respectively. Logistic regression then examined the association of the predictor variables with AD. RESULTS: Four thousand sixteen mother-infant dyads were included. Infants had a higher risk of developing AD if they were delivered vaginally (P = .013), did not stay in the NICU (P < .001), had a longer gestation (P = .001), or had a higher birthweight (P = .002). In modeling atopic dermatitis with the predictor variables, only NICU length of stay remained significantly associated with a lower risk of AD (P = .004). CONCLUSION: Infants had a lower risk of developing AD if they had a longer stay in the NICU.

Intralesional immunotherapy for molluscum contagiosum: A review.

Molluscum contagiosum (MC) is a common cutaneous viral infection with no standard treatment. The virus responsible for MC is thought to be cleared by cell mediated immunity (CMI). Intralesional immunotherapy that stimulates CMI has been shown to be an effective treatment for other cutaneous viruses. In this review, we evaluate the efficacy and safety of intralesional immunotherapy in the treatment of MC. Articles met inclusion criteria if they examined the effects of intralesional immunotherapy as a treatment for MC, with a clear outcome and reproducible methodology. 228 studies were screened and 10 studies met criteria for inclusion. Intralesional immunotherapies investigated included candida, combined measles, mumps, rubella vaccine, tuberculin purified protein derivative, vitamin D3, interferon α, and Streptococcal substrain OK-432. Studies demonstrated clearance of MC lesions following intralesional immunotherapy, with complete response rates between 36% and 100%. No serious adverse effects were noted. Intralesional immunotherapy is a safe and effective treatment option for MC in pediatric and adult patients.

Topical ketoconazole for the treatment of androgenetic alopecia: A systematic review.

Androgenetic alopecia (AGA) is common and associated with significant psychosocial distress. Treatment options are needed for patients that do not adequately respond to first line treatments of finasteride or minoxidil. Topical ketoconazole has been proposed as a promising treatment. The goal of this systematic review was to evaluate the efficacy of topical ketoconazole in the treatment of AGA. A systematic literature search was conducted within the MEDLINE database using the key terms "ketoconazole" and "alopecia." Forty-seven papers were screened for inclusion, of which nine were assessed for eligibility. Seven articles were included in the qualitative synthesis, including two animal studies (total of 40 participants) and five human studies (total of 318 participants). Murine studies demonstrated a significant increase in mean ratio of hair regrowth to denuded area in the ketoconazole treatment groups compared to controls. Human studies reported increased hair shaft diameter following ketoconazole use. One study reported a significant increase in pilary index (percent anagen phase × diameter) following treatment. Studies also demonstrated clinical improvement of AGA based on photographic assessment and subjective evaluation. Topical ketoconazole is a promising adjunctive or alternative therapy in the treatment of AGA. Randomized controlled trials are needed.

Intralesional immunotherapy for pediatric warts: A review.

Cutaneous warts are a common pediatric complaint with modest response to first-line treatments. Warts are a manifestation of human papillomavirus (HPV) infection and are cleared by cell-mediated immunity (CMI). Intralesional immunotherapy treatments have been studied as alternative therapies, particularly for recalcitrant or multiple warts, including Candida antigen, mumps antigen, the combined measles, mumps, and rubella (MMR) vaccine, tuberculin purified protein derivative (PPD), and bacille Calmette-Guerin (BCG) vaccine. These treatments are thought to increase HPV recognition by stimulating CMI. In this review, we evaluate and compare the efficacy and adverse effects of intralesional immunotherapy in the treatment of pediatric warts. Articles met inclusion criteria if they specifically evaluated the effects of intralesional immunotherapy (candida, MMR, tuberculin PPD, or BCG) as treatment for cutaneous warts in a pediatric population, and if they quantified treatment effect in a reproducible manner. Twenty-one studies met criteria. Many studies demonstrated complete clearance of injected common warts in pediatric patients with clearance rates ranging from 23.3% to 95.2%. Distant wart resolution was common. Intralesional immunotherapy is a promising treatment option for cutaneous warts in children.

Publication productivity (H-Index) among pediatric dermatologists in the United States.

BACKGROUND/OBJECTIVE: The h-index is a measure of research achievement. Individuals with similar h-indices should be equivalent in terms of scientific impact. However, this value is inherently biased toward fields with higher visibility and readership. To utilize the power of h-indices in predicting future research success and as a benchmark for academic advancement, niche fields like pediatric dermatology must be examined independently. METHODS: Publicly available data were examined. A list of current pediatric dermatologists were obtained from the Society for Pediatric Dermatology's member directory. The following demographic information was obtained: fellowship certification year, PhD status, prior pediatric residency training, state/region, practice setting, academic appointment, number of publications, and h-index. Descriptive and analytic statistics were calculated. RESULTS: A total of 317 pediatric dermatologists were included. Practice setting distribution was as follows: 54.3% academic, 32.5% non-academic, and 13.3% combined. H-index differed significantly based on pediatric dermatology certification year (P < .001), increasing as time from certification increased. Those in academics had higher h-indices than those in both non-academic and combined practice settings (P < .001 and .007, respectively). Professors (25.0) had higher h-indices than associate professors (11.0), who had higher h-indices than assistant professors (4.4) (P < .001). CONCLUSIONS: H-index increased with increasing academic rank and was highest among those working in academics. For pediatric dermatologists considering application for promotion, the h-index for each level can serve as a useful benchmark to guide decision-making.

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

Microphthalmia and linear skin defects syndrome (MLS) is a rare X-linked dominant disorder characterized by microphthalmia and linear atrophic plaques of the face and neck. The diagnosis of MLS can be challenging secondary to both its rarity and to clinical overlap with Goltz syndrome. Whereas the skin lesions of MLS are more likely to improve in appearance with age, the lesions of Goltz are typically persistent.

Acquired disorders with hypopigmentation: A clinical approach to diagnosis and treatment.

Acquired hypopigmented skin changes are commonly encountered by dermatologists. Although hypopigmentation is often asymptomatic and benign, occasional serious and disabling conditions present with cutaneous hypopigmentation. A thorough history and physical examination, centered on disease distribution and morphologic findings, can aid in delineating the causes of acquired hypopigmented disorders. The second article in this 2-part continuing medical education series focuses on conditions with a hypopigmented phenotype. Early diagnosis and appropriate management of these disorders can improve a patient's quality of life, halt disease progression, and prevent irreversible disability.

Acquired disorders with depigmentation: A systematic approach to vitiliginoid conditions.

Acquired disorders with depigmentation are commonly encountered by dermatologists and present with a wide differential diagnosis. Vitiligo, the most common disorder of acquired depigmentation, is characterized by well-defined depigmented macules and patches. Other conditions, such as chemical leukoderma, can present with similar findings, and are often easily mistaken for vitiligo. Key clinical features can help differentiate between acquired disorders of depigmentation. The first article in this continuing medical education series focuses on conditions with a vitiligo-like phenotype. Early recognition and adequate treatment of these conditions is critical in providing appropriate prognostication and treatment.

Venous thromboembolic and bleeding complications among pregnant women with Klippel-Trenaunay syndrome.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is a vascular malformation overgrowth syndrome characterized by capillary malformation, venous malformation, and limb overgrowth, with or without lymphatic malformation. Patients are at an increased risk of hemorrhage and venous thromboembolism (VTE). Consequently, women with this condition often are counseled to avoid pregnancy, but minimal data are available on the relationship between pregnancy, VTE, and bleeding risk. OBJECTIVE: To review the risk of VTE and bleeding in pregnant and nulligravid women with KTS. METHODS: A retrospective medical record review was performed of women with KTS, aged ≥18 years, evaluated at Mayo Clinic Rochester, Minnesota, from August 1945 to April 2018. RESULTS: We identified 75 women with ≥1 pregnancy and 64 nulligravid women. VTE prevalence was 14 of 70 (20%) for women with a history of pregnancy and 16 of 64 (25%) for nulligravid women (P = .93). Among the 70 women with a history of pregnancy, 7 of 18 VTE events (39%) occurred in association with pregnancy, with VTE affecting 7 of 151 pregnancies (4.6%). Significant bleeding prevalence was 6 of 70 (8.6%) for women with a history of pregnancy and 6 of 64 (9.4%) for nulligravid women (P = .54). LIMITATIONS: This was a retrospective review. CONCLUSION: The prevalence of VTE and bleeding was similar in patients with KTS, irrespective of pregnancy status.

The impact of personalized reminders in addition to an automated patient reminder system on pediatric dermatology no-show rates: A pilot study.

We investigated the impact of a personalized telephone call reminder for patients that had not confirmed their clinic appointment, in addition to automated reminders, on monthly no-show rates. Our data revealed a reduction in the monthly no-show rate from 16.0% (SD = 3.91%) before the intervention to 13.1% (SD = 0.27%, P = 0.0997) after the intervention, which was not statistically significant. The standard deviation of the no-show rate with the intervention was reduced, leading to a predictable monthly no-show rate (range 12.93%-13.51%). Thus, the number of patients attending clinic was more predictable. This study highlights the need for additional investigation of factors associated with appointment nonadherence in pediatric dermatology.

The art of distraction: How to compile and use a distraction kit in pediatric dermatology.

Painful procedures are inevitable in pediatric dermatology. Even though the procedures required are typically brief, there is great variability in children's ability to cope. Adequately preparing children for procedures and utilizing distraction tools can ease the anxiety of children, caregivers, and providers.

Topical tacrolimus therapy in the management of lower extremity ulcers due to prolidase deficiency.

Prolidase deficiency is a rare autosomal recessive disorder characterized by cutaneous ulcers, facial dysmorphism, recurrent infections, and intellectual disability. We report a unique case of a 6-year-old boy with prolidase deficiency and Crohn's disease who presented with lower extremity ulcers. Cutaneous ulcers due to prolidase deficiency are historically resistant to treatment, and we report success with the novel use of topical tacrolimus.

The infantile cutaneous microbiome: A review.

Recent focus on the neonatal intestinal microbiome has advanced our knowledge of the complex interplay between the intestinal barrier, the developing immune system, and commensal and pathogenic organisms. Despite the parallel role of the infant skin in serving as both a barrier and an interface for priming the immune system, large gaps exist in our understanding of the infantile cutaneous microbiome. The skin microbiome changes and matures throughout infancy, becoming more diverse and developing the site specificity known to exist in adults. Delivery method initially determines the composition of the cutaneous microbiome, though this impact appears transient. Cutaneous microbes play a critical role in immune system development, particularly during the neonatal period, and microbes and immune cells have closely intertwined, reciprocal effects. The unique structure of newborn skin influences cutaneous microbial colonization and the development of dermatologic pathology. The development of the infantile skin barrier and cutaneous microbiome contributes to future skin pathology. Atopic dermatitis flares and seborrheic dermatitis have been linked to dysbiosis, while erythema toxicum neonatorum is an immune response to the establishment of normal bacterial skin flora. Physicians who care for infants should be aware of the impact of the infantile skin microbiome and its role in the development of pathology. A better understanding of the origin and evolution of the skin microbiome will lead to more effective prevention and treatment of pediatric skin disease.

Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome.

BACKGROUND: Klippel-Trenaunay syndrome (KTS) is characterized by the triad of capillary malformation, venous malformation with or without lymphatic malformation, and limb overgrowth. Patients with KTS have lower scores in general in mental health, physical function, and quality of life than the general population. OBJECTIVE: To determine the prevalence of pain and psychiatric comorbidity in patients with KTS. METHODS: A retrospective review of 410 patients with KTS evaluated during 1976-2012 was conducted to identify the presence of pain, psychiatric comorbidities, and psychosocial stressors. RESULTS: Pain was reported by 260 patients (63.4%) and was associated with any KTS complication (P < .0001) and venous malformations of the lower extremities (P = .0008) and feet (P = .0007). Ninety-five patients had a diagnosed psychiatric condition (23.2%), most commonly depression (15.1%) and anxiety (5.1%). Pain (P = .0016), superficial thrombosis (P = .0269), deep embolic/thrombotic events (P = .0005), gastrointestinal complications (P = .0085), genitourinary complications (P = .0163), and capillary malformation of the hands (P = .0040) were associated with having a psychiatric diagnosis. LIMITATIONS: This is a retrospective study that relied on physician detection and reporting of variables. CONCLUSION: Pain and psychiatric conditions, particularly depression and anxiety, are common in patients with KTS. Awareness of the psychosocial impact of KTS and appropriate screening are important.