Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Uncombable hair syndrome (UHS), also known as "spun glass hair syndrome," "pili trianguli et canaliculi," or "cheveux incoiffables" is a rare anomaly of the hair shaft that occurs in children and improves with age. UHS is characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Until now, both simplex and familial UHS-affected case subjects with autosomal-dominant as well as -recessive inheritance have been reported. However, none of these case subjects were linked to a molecular genetic cause. Here, we report the identification of UHS-causative mutations located in the three genes PADI3 (peptidylarginine deiminase 3), TGM3 (transglutaminase 3), and TCHH (trichohyalin) in a total of 11 children. All of these individuals carry homozygous or compound heterozygous mutations in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority of UHS case subjects. The two enzymes PADI3 and TGM3, responsible for posttranslational protein modifications, and their target structural protein TCHH are all involved in hair shaft formation. Elucidation of the molecular outcomes of the disease-causing mutations by cell culture experiments and tridimensional protein models demonstrated clear differences in the structural organization and activity of mutant and wild-type proteins. Scanning electron microscopy observations revealed morphological alterations in hair coat of Padi3 knockout mice. All together, these findings elucidate the molecular genetic causes of UHS and shed light on its pathophysiology and hair physiology in general.

Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.

Alopecia areata (AA) is a common hair loss disorder of autoimmune aetiology, which often results in pronounced psychological distress. Understanding of the pathophysiology of AA is increasing, due in part to recent genetic findings implicating common variants at several genetic loci. To date, no study has investigated the contribution of copy number variants (CNVs) to AA, a prominent class of genomic variants involved in other autoimmune disorders. Here, we report a genomewide- and a candidate gene-focused CNV analysis performed in a cohort of 585 patients with AA and 1340 controls of Central European origin. A nominally significant association with AA was found for CNVs in the following five chromosomal regions: 4q35.2, 6q16.3, 9p23, 16p12.1 and 20p12.1. The most promising finding was a 342.5-kb associated region in 6q16.3 (duplications in 4/585 patients; 0/1340 controls). The duplications spanned the genes MCHR2 and MCHR2-AS1, implicated in melanin-concentrating hormone (MCH) signalling. These genes have not been implicated in previous studies of AA pathogenesis. However, previous research has shown that MCHR2 affects the scale colour of barfin flounder fish via the induction of melanin aggregation. AA preferentially affects pigmented hairs, and the hair of patients with AA frequently shows a change in colour when it regrows following an acute episode of AA. This might indicate a relationship between AA, pigmentation and MCH signalling. In conclusion, the present results provide suggestive evidence for the involvement of duplications in MCHR2 in AA pathogenesis.

Children with Dry Skin and Atopic Predisposition: Outcome Measurement with Validated Scores for Atopic Dermatitis.

BACKGROUND: Dry skin is a common skin condition in childhood. Few studies exist investigating the influence of daily skin care on dry skin in infants at risk of developing atopic dermatitis (AD). We aimed to assess the effect of skin care on dry skin in this special cohort using validated scores for AD and analysis of skin microtopography. METHODS: 43 children were randomized to group 1 (G1) and group 2 (G2) and 22 infants to group 3 (G3). During 16 weeks, G1 and G3 applied daily a plant-based emollient and G2 a petrolatum-based emollient. The core outcome was assessed by Severity Scoring of Atopic Dermatitis (SCORAD) and Patient-Oriented SCORing Atopic Dermatitis (PO-SCORAD). The influence on the parents' life was evaluated by a questionnaire and microtopography by Visioscan® VC 98. RESULTS: The SCORAD index declined significantly until week (W) 16 in all groups (p ≤ 0.041). The sleeplessness score analyzed by PO-SCORAD was highly reduced after W12 in G1 and after W16 in G2 (p ≤ 0.030). The influence on the parents' anxiety was reduced in G3 at W12 and W16 (p = 0.016). The Visioscan parameter scaliness strongly diminished at W4 (p ≤ 0.049) and W16 (p ≤ 0.013) in all groups. CONCLUSIONS: This trial demonstrates improved skin conditions and sleep following daily emollient application in infants and children having dry skin and being at risk of AD. Especially parents of infants showed a reduced fear that their children might develop AD. Further studies are required to investigate the preventive effect of daily emollient therapy in this special cohort evaluating the outcome measures used in this trial.

A Single-Centre, Randomized, Double-Blind, Placebo-Controlled Clinical Trial to Investigate the Efficacy and Safety of Minoxidil Topical Foam in Frontotemporal and Vertex Androgenetic Alopecia in Men.

BACKGROUND: 5% minoxidil formulations twice daily are effective in treating vertex male androgenetic alopecia (AGA); however, efficacy and safety data in frontotemporal regions are lacking. OBJECTIVES: To assess the efficacy of 5% minoxidil topical foam (5% MTF) in the frontotemporal region of male AGA patients after 24 weeks of treatment compared to placebo treatment and to the vertex region. METHODS: Seventy males with moderate AGA applied 5% MTF or placebo foam (plaTF) twice daily for 24 weeks in frontotemporal and vertex regions. Target area non-vellus hair count (TAHC) was the primary end point. RESULTS: Frontotemporal and vertex TAHC and target area cumulative non-vellus hair width (TAHW) showed similar responses to 5% MTF with significant increases up to week 16 compared to baseline (p < 0.001). After 24 weeks of treatment, frontotemporal TAHW increased significantly in the 5% MTF group compared to the plaTF group (p = 0.017), while TAHC showed a similar non-significant increase from baseline in both regions. At 24 weeks, 5% MTF users rated a significant improvement in scalp coverage for the frontotemporal (p = 0.016) and vertex areas (p = 0.027). CONCLUSIONS: 5% MTF twice a day promotes hair density and width in both frontotemporal and vertex regions in men with moderate stages of AGA. © 2015 S. Karger AG, Basel.

Influence of sunflower seed oil on the skin barrier function of preterm infants: a randomized controlled trial.

BACKGROUND: Inadequate skin care may increase morbidity in preterm infants. Skin care practices that support skin maturation have barely been investigated. OBJECTIVES: To investigate the effect of sunflower seed oil (SSO) on skin barrier development in low-birth-weight premature infants. METHODS: 22 preterm infants (<48 h after birth, 1,500-2,500 g) were randomized into group C (control) and group SSO, receiving daily SSO application during the first 10 postnatal days, followed by no intervention. Transepidermal water loss (TEWL), stratum corneum hydration (SCH), skin pH and sebum were measured <48 h after birth and on postnatal days 5, 11 and 21 on the forehead, abdomen, thigh and buttock. RESULTS: Skin pH decreased, while sebum remained stable in both groups. In group C, TEWL remained stable; in group SSO, TEWL increased significantly on the abdomen, leg and buttock until day 11, followed by a decrease after SSO application had been stopped. Abdomen SCH remained stable in group C, but continuously decreased in group SSO until day 21. CONCLUSION: SSO application may retard postnatal skin barrier maturation in preterm infants.

Prevention of diaper dermatitis in infants--a literature review.

Diaper dermatitis (DD) is one of the most common skin conditions in neonates and infants, with a peak between the ages of 9 and 12 months. Appropriate skin care practices that support skin barrier function and protect the buttocks skin from urine and feces are supposed to be effective in the prevention of DD. Despite many recommendations for parents and caregivers on proper diaper skin care, there is no up-to-date synthesis of the available evidence to develop recommendations for DD prevention practice. Therefore we performed a systematic literature review on the efficacy of nonmedical skin care practices on the diapered area of healthy, full-term infants ages 0 to 24 months. We identified 13 studies covering skin care practices such as cleansing, bathing, and application of topical products. DD prevalence and incidence and physiologic skin parameters were used as efficacy parameters. The results of this review indicate that cleansing of the diaper area using baby wipes or water and a washcloth have comparable effects on diapered skin. Bathing with a liquid baby cleanser twice weekly seems comparable with water alone. The application of ointments containing zinc oxide or petrolatum with or without vitamin A seems to have comparable effects on DD severity. There seems to be no information on whether single skin care practices such as cleansing, bathing, and application of topical preparations can prevent DD. High-quality randomized clinical trials are needed to show the effectiveness of skin care practices for controlling and preventing DD.

Effect of diaper cream and wet wipes on skin barrier properties in infants: a prospective randomized controlled trial.

The effect of different diaper care procedures on skin barrier function in infants has been minimally investigated and may be assessed using objective methods. In a single-center, prospective trial, 89 healthy 9-month-old infants (±8 wks) were randomly assigned to three diaper care regimens: group I used water-moistened washcloths at diaper changes (n = 30), group II additionally applied diaper cream twice daily (n = 28), and group III used wet wipes and diaper cream twice daily (n = 31). Transepidermal water loss (TEWL), skin hydration (SCH), skin pH, interleukin 1α (IL-1α) levels, and microbiologic colonization were measured in diapered skin (upper outer quadrant of the buttocks), nondiapered skin (upper leg), and if diaper dermatitis (DD) occurred, using the most affected skin area at day 1 and weeks 4 and 8. Skin condition was assessed utilizing a neonatal skin condition score and diaper rash grade. On diapered skin, SCH decreased in groups II and III, whereas TEWL values were reduced in group II only. Skin pH increased in groups II and III. In general, SCH, skin pH, and IL-1α levels were higher in healthy diapered skin than in nondiapered skin. The incidence and course of DD was comparable in all groups. Areas with DD had greater TEWL and skin pH than unaffected skin areas. Infants who received diaper cream had lower SCH and TEWL and higher pH levels in the diapered area than on nondiapered skin. No correlation with the occurrence of DD was found.

Do repeated skin barrier measurements influence each other's results? An explorative study.

BACKGROUND: Biophysical skin measurement techniques are widely used to quantify the skin barrier function. In clinical research usually several parameters are subsequently measured in the same skin areas. In this study, possible interfering effects of subsequent measurement procedures on transepidermal water loss (TEWL), stratum corneum hydration (SCH) and skin surface pH were investigated. METHODS: An exploratory study was conducted. Twelve young (mean age 32.9 ± 7.2 years) and 12 elderly (mean age 68.3 ± 2.5 years) subjects without any skin diseases were enrolled. The parameters TEWL, skin surface pH, SCH, sebum content, and surface evaluation of living skin were obtained successively in pairs from 4 contralateral volar forearm skin areas. RESULTS: SCH and skin surface pH seemed to be unaffected by previous measurement procedures. TEWL was systematically increased after pH and systematically decreased after stratum corneum measurements. CONCLUSIONS: Measurements per se might interact with the skin, thus changing its characteristics. If several skin barrier function parameters need to be assessed subsequently in the same skin areas, we recommend that TEWL should be measured first followed by all others.

Children with dry skin and atopic predisposition: daily use of emollients in a participant-blinded, randomized, prospective trial.

BACKGROUND: Dry skin reflects a skin barrier defect which can lead to atopic dermatitis. Little is known about the distinct effects of emollient use in children with dry skin and atopic predisposition. OBJECTIVES: We investigated the effects of daily application of pressed ice plant juice (PIPJ)-based emollients and petrolatum-based emollients. METHODS: Children aged 2-6 years with dry skin and atopic predisposition were randomized into 2 groups: group 1 received emollients containing PIPJ and natural lipids, while group 2 received petrolatum-based emollients. Skin condition and biophysical properties of the skin barrier were assessed at inclusion and weeks 4, 12 and 16. RESULTS: Skin condition improved significantly in all children. Comparing the groups, children treated with emollients containing PIPJ showed significantly higher stratum corneum hydration values and significantly lower transepidermal water loss values at week 16 on the forearm and forehead. A significant decrease in skin pH was noted in group 2 on the forearm and forehead; group 1 showed a stable course. CONCLUSION: Early intervention with emollients in children with dry skin condition and atopic predisposition may improve their skin condition during daily emollient application. PIPJ-based formulations may be helpful to maintain skin barrier integrity.

Comparison of two in vivo measurements for skin surface topography.

BACKGROUND/PURPOSE: Non-contact methods for quantifying skin surface topography in vivo are common in skin research. The surface evaluation of living skin (SELS) and the phaseshift rapid in vivo measurement of skin (PRIMOS) are two approaches to measure skin surface roughness and wrinkling via optical methods. The aim of this study was to compare the reliability and interrelatedness of the parameters obtained by both technologies. METHODS: Three repeated measurements were conducted on four skin areas (from distal to proximal) on the volar forearm skin in 12 healthy young subjects with two different instruments using the SELS and PRIMOS methods. Subjects mean age was 32.9 (SD 7.2) years. Skin phototypes were II (n = 7), III (n = 4), and IV (n = 1). The SELS parameters, smoothness (SEsm ), roughness (SEr ), scaliness (SEsc ), and wrinkles (SEw ), and a range of DIN/ISO surface roughness parameters were obtained. Intraclass correlation coefficients to estimate the reliabilities and correlation coefficients for estimating strengths and directions of relationships were applied. RESULTS: Values of obtained parameters were very well comparable across the four skin areas. Reliability of the four SELS parameters was very high ranging between 0.95 and 1.00. Reliability coefficients for the roughness parameters varied between 0.35 and 1.00, whereas half of all PRIMOS estimates showed measurement errors less than 20%. SELS and the PRIMOS roughness parameters were largely unrelated. CONCLUSION: Both measurement technologies provide reliable estimates indicating that skin surface measures of the volar forearm in young adults can differentiate between skin areas of different persons or different treatments in clinical studies. Skin surface topography of the volar forearm is comparable from distal to proximal assuring baseline comparability after randomization in clinical trials. SELS and PRIMOS roughness parameters of the volar forearm are not comparable and contain different types of information.

A randomized double-blind placebo-controlled pilot study to assess the efficacy of a 24-week topical treatment by latanoprost 0.1% on hair growth and pigmentation in healthy volunteers with androgenetic alopecia.

BACKGROUND: Latanoprost is a prostaglandin analogue used to treat glaucoma. It can cause adverse effects, such as iridial and periocular hyperpigmentation, and eyelash changes including pigmentation and increased thickness, length, and number. Latanoprost has been used to treat eyelash alopecia, but knowledge on its effects on human scalp hair growth is not available. OBJECTIVE: The primary objectives were to assess the efficacy of latanoprost on hair growth and pigmentation. The secondary objectives were to assess the effect on scalp pigmentation; investigate the treatment duration needed to affect hair growth, hair pigmentation, and scalp pigmentation; and assess safety of latanoprost. METHODS: Sixteen men with mild androgenetic alopecia (Hamilton II-III) were included. Latanoprost 0.1% and placebo were applied daily for 24 weeks on two minizones on the scalp. Measurements on hair growth, density, diameter, pigmentation, and anagen/telogen ratio were performed throughout the study. RESULTS: At 24 weeks, an increased hair density on the latanoprost-treated site was observed compared with baseline (n = 16, P < .001) and placebo-treated site (P = .0004). LIMITATIONS: Only young men with mild androgenetic alopecia were included. The results may not be applicable to other patient groups. Choice of investigational site may have affected the results. CONCLUSIONS: Latanoprost significantly increased hair density (terminal and vellus hairs) at 24 weeks compared with baseline and the placebo-treated area. Latanoprost could be useful in stimulating hair follicle activity and treating hair loss.

Skin care practices for newborns and infants: review of the clinical evidence for best practices.

In recent years, there have been continuing efforts to understand the effects of baby skin care routines and products on the healthy development of baby skin. Such efforts aim ultimately to determine the best infant skin care practices. The pediatric and dermatologic communities have not reached consensus on what constitutes an appropriate cleansing practice. In the United States, guidelines for neonatal skin care have been developed, propagated, and implemented. The accumulated knowledge has promoted evidence-based clinical practices and, therefore, may help to improve clinical outcomes, although these guidelines primarily cover the care of preterm newborns and the treatment of those with other health problems. High-level, long-term clinical evidence of the effective and safe cleansing of healthy, full-term newborns and infants is scarce. This review presents a comprehensive analysis of the scientific literature on baby skin development, cleansing practices, and related products (for healthy newborns and babies) since 1970. The evidence drawn from the reviewed literature can be summarized as follows: Bathing immersed in water seems generally superior to washing alone. Bathing or washing with synthetic detergents (syndets) or mild liquid baby cleansers seems comparable with or even superior to water alone. Nevertheless, larger randomized clinical trials with age-defined cohorts of babies as well as more-defined parameters are required to identify optimal practices and products for skin cleansing of healthy infants. These parameters may include standardized skin function parameters such as transepidermal water loss, stratum corneum hydration, skin surface pH, and sebum production. Clinical skin scores such as the Neonatal Skin Condition Score may be employed as outcome measures.

Standardized diaper care regimen: a prospective, randomized pilot study on skin barrier function and epidermal IL-1α in newborns.

Adaptation of skin barrier function and interleukin-1α (IL-1α) content in diapered and nondiapered skin are poorly characterized in newborns receiving standard skin care. In a monocentric, prospective pilot study 44 healthy, full-term neonates were randomly assigned to skin care with baby wipes (n = 21) or water-moistened washcloth (n = 23) at each diaper change. Transepidermal water loss (TEWL), skin hydration, skin-pH, IL-1α, and epidermal desquamation were measured on days 2, 14, and 28 postpartum. Microbiological colonization was evaluated at baseline and on day 28. Significantly lower TEWL was found on the buttock in the group using baby wipes compared to water. IL-1α and skin hydration significantly increased and pH decreased independent of skin care regimen. IL-1α was significantly higher in diapered skin compared to nondiapered skin. Although skin care with wipes seems to stabilize TEWL better than using water, the skin condition and microbiological colonization were comparable using both cleansing procedures. Increase of epidermal IL-1α may reflect postnatal skin barrier maturation. These data suggest that neither of the two cleansing procedures harms skin barrier maturation within the first four weeks postpartum. Longer observations on larger populations could provide more insight into postnatal skin barrier maturation.

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective: To elucidate the genetic spectrum of UHS. Design, Setting, and Participants: This cohort study includes 107 unrelated index patients with a suspected diagnosis of UHS and family members who were recruited worldwide from January 2013 to December 2021. Participants of all ages, races, and ethnicities were recruited at referral centers or were enrolled on their own initiative following personal contact with the authors. Genetic analyses were conducted in Germany from January 2014 to December 2021. Main Outcomes and Measures: Clinical photographs, Sanger or whole-exome sequencing and array-based genotyping of DNA extracted from blood or saliva samples, and 3-dimensional protein modeling. Descriptive statistics, such as frequency counts, were used to describe the distribution of identified pathogenic variants and genotypes. Results: The genetic characteristics of patients with UHS were established in 80 of 107 (74.8%) index patients (82 [76.6%] female) who carried biallelic pathogenic variants in PADI3, TGM3, or TCHH (ie, genes that encode functionally related hair shaft proteins). Molecular genetic findings from 11 of these 80 individuals were previously published. In 76 (71.0%) individuals, the UHS phenotype were associated with pathogenic variants in PADI3. The 2 most commonly observed PADI3 variants account for 73 (48.0%) and 57 (37.5%) of the 152 variant PADI3 alleles in total, respectively. Two individuals carried pathogenic variants in TGM3, and 2 others carried pathogenic variants in TCHH. Haplotype analyses suggested a founder effect for the 4 most commonly observed pathogenic variants in the PADI3 gene. Conclusions and Relevance: This cohort study extends and gives an overview of the genetic variant spectrum of UHS based on molecular genetic analyses of the largest worldwide collective of affected individuals, to our knowledge. Formerly, a diagnosis of UHS could only be made by physical examination of the patient and confirmed by microscopical examination of the hair shaft. The discovery of pathogenic variants in PADI3, TCHH, and TGM3 may open a new avenue for clinicians and affected individuals by introducing molecular diagnostics for UHS.

A randomized, single-blind trial of 5% minoxidil foam once daily versus 2% minoxidil solution twice daily in the treatment of androgenetic alopecia in women.

BACKGROUND: Although twice-daily application of propylene glycol-containing 2% minoxidil topical solution (MTS) stimulates new hair growth, higher concentrations of minoxidil in a once-daily, propylene glycol-free formulation may improve efficacy and reduce unpleasant side effects. OBJECTIVE: We sought to compare the efficacy, safety, and acceptability and to show noninferiority of once-daily 5% minoxidil topical foam (MTF) with twice-daily 2% MTS in women with androgenetic alopecia. METHODS: A total of 113 women with androgenetic alopecia were randomized to 24 weeks of treatment with 5% MTF or 2% MTS. The primary efficacy parameter was change from baseline in nonvellus target area hair count at week 24. Secondary end points included change in nonvellus target area hair width, overall efficacy by global photographic review as assessed by treatment-blinded evaluators and the subject herself, adverse events, and participants' assessment of product aesthetics. RESULTS: After 24 weeks, women randomized to 5% MTF once daily showed noninferior target area hair count and target area hair width and experienced greater, but nonsignificant, improvements in target area hair count, target area hair width, and overall efficacy by global photographic review than those randomized to 2% MTS used twice daily. 5% MTF was significantly superior to 2% MTS in participants' agreement with "the treatment does not interfere with styling my hair" (P = .002). Women randomized to 5% MTF experienced significantly lower rates of local intolerance (P = .046) especially in pruritus and dandruff compared with 2% MTS. LIMITATION: Because of differences in the formulations tested, study participants were not blinded to treatment. CONCLUSIONS: Once-daily 5% MTF is noninferior and as effective for stimulating hair growth as twice-daily 2% MTS in women with androgenetic alopecia and is associated with several aesthetic and practical advantages.

Hair shaft abnormalities in alopecia areata evaluated by optical coherence tomography.

BACKGROUND/PURPOSE: Optical coherence tomography (OCT) is able to provide highly reproducible measurements of hair shaft thickness, including hair shaft diameter, cross-sectional surface area and hair shape, similar to histology but in vivo. Variations in the caliber of hair shafts have been described in patchy hair loss like alopecia areata (AA) using electron microscopy. The aim of this study was to evaluate whether OCT is useful for the evaluation of hair shaft abnormalities in AA. METHODS: The measurements were performed on patients with AA (n=9), aged 2-66 years. Fifty hairs from the border of an alopecic area and 50 hairs from an unaffected area without hair loss were examined using the OCT technique. The hair parameters were characterized by the cross-section (CS) and the form factor. The ratio of the maximal and minimal diameters of the hair at a fixed measuring distance from the scalp surface determined the form factor (d(max)/d(min)). RESULTS: In all cases, the CS of hairs from an AA patch was significantly lower compared with hairs of an unaffected area. However, the form factor did not indicate any disturbances in hair growth. CONCLUSIONS: The results demonstrate that structural abnormalities of hair shafts are found in active lesions of AA, but not in clinically unaffected hairs. The OCT technique is a promising method to gain more insight into the pathogenesis of AA in a non-invasive way.

Effect of baby swimming and baby lotion on the skin barrier of infants aged 3-6 months.

BACKGROUND: Skin care is important especially in infancy as the skin barrier matures during the first year of life. We studied the effects of baby swimming and baby lotion on the skin barrier function of infants. SUBJECTS AND METHODS: 44 infants aged 3-6 months were included in this mono-center prospective study. The healthy infants swam four times and were randomized to group(L) : baby lotion was applied after swimming all over the body and to group(WL) : no lotion was used. Transepidermal water loss, stratum corneum hydration, skin-pH and sebum were measured on four body regions using non-invasive methods. RESULTS: In group(L), sebum and pH remained stable. In group(WL), significant decrease in sebum was noted on forehead and thigh, and for pH on thigh and buttock. Group(L) had fewer infants with at least one adverse event compared to group(WL). Location-dependent gender differences in skin barrier function were observed. CONCLUSIONS: Reaction of skin barrier function to baby swimming and skin care regimens showed typical regional variability between body areas. Influence of baby lotion on skin barrier and gender differences in skin functional parameters were demonstrated for the first time in healthy infants participating in baby swimming.

Effect of standardized skin care regimens on neonatal skin barrier function in different body areas.

The effect of topical skin care products on neonatal skin barrier during first 8 weeks of life has not been scientifically evaluated. In a prospective, randomized clinical study, we compared the influence of three skin care regimens to bathing with water on skin barrier function in newborns at four anatomic sites. A total of 64 healthy, full-term neonates (32 boys and 32 girls) aged <48 hours were randomly assigned to four groups receiving twice-weekly: WG, bathing with wash gel (n = 16); C, bathing and cream (n = 16); WG + C, bathing with wash gel plus cream (n = 16); and B, bathing with water (n = 16). Transepidermal water loss, stratum corneum hydration, skin pH, sebum were measured on day 2, week 2, 4, 8 of life on front, abdomen, upper leg, and buttock. Skin condition was scored and microbiologic colonization was documented. After 8 weeks, group WG + C showed significantly lower transepidermal water loss on front, abdomen, and upper leg as well as higher stratum corneum hydration on front and abdomen compared with group B. Similarly, group C showed lower transepidermal water loss and higher stratum corneum hydration on these body regions. Group WG revealed significantly lower pH on all sites compared with group B at week 8. No differences in sebum level, microbiologic colonization and skin condition score were found. Skin care regimens did not harm physiologic neonatal skin barrier adaptation within the first 8 weeks of life. However, significant influence of skin care on barrier function was found in a regional specific fashion.

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.

Alopecia areata (AA) is one of the most common forms of human hair loss. Although genetic studies have implicated autoimmune processes in AA etiology, understanding of the etiopathogenesis is incomplete. Recent research has implicated microRNAs, a class of small noncoding RNAs, in diverse autoimmune diseases. To our knowledge, no study has investigated the role of microRNAs in AA. In this study, gene-based analyses were performed for microRNAs using data of the largest genome-wide association meta-analysis of AA to date. Nominally, significant P-values were obtained for 78 of the 617 investigated microRNAs. After correction for multiple testing, three of the 78 microRNAs remained significant. Of these, miR-30b/d was the most significant microRNA for the follow-up analyses, which also showed lower expression in the hair follicle of AA patients. Target gene analyses for the three microRNAs showed 42 significantly associated target genes. These included IL2RA, TNXB, and ERBB3, which had been identified as susceptibility loci in previous genome-wide association studies. Using luciferase assay, site-specific miR-30b regulation of the AA risk genes IL2RA, STX17, and TNXB was validated. This study implicates microRNAs in the pathogenesis of AA. This finding may facilitate the development of future treatment strategies.