Discovery Logo
Sign In
Paper
Search Paper
Cancel
Pricing Sign In
  • My Feed iconMy Feed
  • Search Papers iconSearch Papers
  • Library iconLibrary
  • Explore iconExplore
  • Ask R Discovery iconAsk R Discovery Star Left icon
  • Chat PDF iconChat PDF Star Left icon
  • Citation Generator iconCitation Generator
  • Chrome Extension iconChrome Extension
    External link
  • Use on ChatGPT iconUse on ChatGPT
    External link
  • iOS App iconiOS App
    External link
  • Android App iconAndroid App
    External link
  • Contact Us iconContact Us
    External link
  • Paperpal iconPaperpal
    External link
  • Mind the Graph iconMind the Graph
    External link
  • Journal Finder iconJournal Finder
    External link
Discovery Logo menuClose menu
  • My Feed iconMy Feed
  • Search Papers iconSearch Papers
  • Library iconLibrary
  • Explore iconExplore
  • Ask R Discovery iconAsk R Discovery Star Left icon
  • Chat PDF iconChat PDF Star Left icon
  • Citation Generator iconCitation Generator
  • Chrome Extension iconChrome Extension
    External link
  • Use on ChatGPT iconUse on ChatGPT
    External link
  • iOS App iconiOS App
    External link
  • Android App iconAndroid App
    External link
  • Contact Us iconContact Us
    External link
  • Paperpal iconPaperpal
    External link
  • Mind the Graph iconMind the Graph
    External link
  • Journal Finder iconJournal Finder
    External link

Related Topics

  • Disseminated Superficial Actinic Porokeratosis
  • Disseminated Superficial Actinic Porokeratosis
  • Keratosis Pilaris Atrophicans
  • Keratosis Pilaris Atrophicans
  • Disorders Of Keratinization
  • Disorders Of Keratinization
  • Ichthyosis Vulgaris
  • Ichthyosis Vulgaris

Articles published on Keratosis Pilaris

Authors
Select Authors
Journals
Select Journals
Duration
Select Duration
335 Search results
Sort by
Recency
  • New
  • Research Article
  • 10.1002/ajmg.a.64277
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
  • Feb 1, 2026
  • American journal of medical genetics. Part A
  • Nikole Rautiainen + 10 more

Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describea three-generation family with a previously unreportedheterozygous HRAS variant c.175G>A (p.Ala59Thr) causing a predominantly ectodermal phenotype. Exome and Sanger sequencing were used for genetic analysis. Dermatological and cardiac evaluations were performed, including skin biopsy and hair sample microscopy. A 14-year-old proband, her twin sister, mother, mother's father, and mother's paternal half-brother all shared a phenotype of woolly and sparse hair, curly eyelashes, sparse eyebrows, ulerythema ophryogenes, keratosis pilaris, palmoplantar keratoderma, and low-set posteriorly rotated ears. One patient required a gastrostomy after birth but otherwise classic CS features, including craniofacial anomalies, hypertrophic cardiomyopathy, and intellectual disability, were absent. We conducted a comparison supporting the attenuated CS phenotype associated with HRAS codon 58-60 variants. In conclusion, HRAS c.175G>A (p.Ala59Thr) causes predominantly an ectodermal phenotype, consistent with milder HRAS-related RASopathies involving codons 58-60 distinguishable from classic CS. HRAS variants should be considered in patients with ectodermal and CS-like features for accurate genetic diagnosis and targeted management.

  • New
  • Research Article
  • 10.3928/19382359-20251112-04
Key Pediatric Dermatologic Conditions: A Clinical Review-Part II.
  • Feb 1, 2026
  • Pediatric annals
  • Lily C Kaufman + 2 more

Dermatologic complaints are commonly encountered in pediatric primary care, accounting for up to 30% of visits; yet, diagnostic error rates remain high due to limited dermatologic training during pediatric residency training. This article, the second installment of a two-part series, provides practical guidance for primary care pediatricians on five commonly encountered dermatologic conditions: keratosis pilaris and variants, pity-riasis lichenoides et varioliformis acuta and pityriasis lichenoides chronica, neonatal vs infantile acne, Gianotti-Crosti syndrome, and urticarial eruptions. For each condition, key clinical features, diagnostic challenges, and evidence-based management strategies are discussed, with a focus on empowering pediatricians to make timely and accurate diagnoses and improve patient outcomes. Emphasis is placed on the importance of patient and family education, recognition of clinical signs, and management approaches. This series aims to bridge existing knowledge gaps and provide pediatric clinicians with essential tools for addressing dermatologic conditions in children.

  • Research Article
  • 10.1016/j.jdcr.2026.01.023
Treatment of keratosis pilaris with laser hair removal as monitored by line-field optical coherence tomography: a proof-of-concept study
  • Jan 1, 2026
  • JAAD Case Reports
  • Priya Agarwal + 4 more

Treatment of keratosis pilaris with laser hair removal as monitored by line-field optical coherence tomography: a proof-of-concept study

  • Research Article
  • 10.18203/issn.2455-4529.intjresdermatol20254118
Follicular keratotic diseases: a retrospective study of 50 cases in a tertiary care center of rural South India with dermoscopy and histopathology evaluation
  • Dec 22, 2025
  • International Journal of Research in Dermatology
  • Kaushik T Thomas + 2 more

Background: Follicular keratotic diseases involve abnormal keratinization in hair follicles, causing follicular papules, hyperkeratosis, and perifollicular erythema. These disorders include diseases like phrynoderma, keratosis pilaris, lichen spinulosis psoriasis, eczema, and lichen planus. Dermoscopy is a non-invasive tool which can be used to differentiate diseases without the need of invasive procedures. Methods: This study is a hospital based cross sectional study of 50 patients diagnosed with follicular keratotic diseases irrespective of age, sex, and duration of disease. Histopathological and dermoscopic findings of these disorders were noted. Results: Keratosis pilaris was the most common follicular keratotic disease (FKD), predominantly affecting adolescent and young adult females. Lesions appeared mainly on the arms (92%), legss (48.3%), and lateral part of thigh (31.3%). Other follicular keratotic diseases observed were follicular eczema (10%), phrynoderma (10%), pityriasis rubra pilaris (10%) follicular lichen planus (2%), follicular psoriasis (2%), and lichen spinulosus (2%). Dermoscopy showed perifollicular scaling, erythema, keratin plugs, and white halos, while histopathology confirmed hyperkeratosis, follicular dilation, and minimal inflammation. Conclusion: The study highlights keratosis pilaris as the most common FKD, with dermoscopic and histopathological correlations playing a crucial role in accurate diagnosis. As all the FKD and clinically similar confirmation of diagnosis depends on dermoscopy and histopathology. The findings also emphasize the importance of non-invasive techniques like dermoscopy in distinguishing KP from other follicular disorders and guiding effective management strategies.

  • Research Article
  • 10.25259/jcas_88_2024
Pro-yellow laser therapy in vascular and non-vascular skin disorders: A narrative review
  • Dec 5, 2025
  • Journal of Cutaneous and Aesthetic Surgery
  • Mehmet Ali Demirci + 5 more

The pro-yellow laser (PYL), with a wavelength of 577 nm, is an ideal tool for treating vascular lesions and vascular malformations in the skin, and is also a powerful therapeutic modality that can be applied to non-vascular conditions. By penetrating deeper than standard lasers, it simultaneously targets both prominent lesions and underlying structures. The lesion turns white immediately after exposure to the appropriate dose, serving as a clinical indicator of thermal damage. Results can be obtained more safely, permanently, and with fewer side effects for lighter and darker skin tones. Neither the dye nor the gel used in pulsed dye and Intense Pulsed Light (IPL) laser systems is required with the Pro Yellow Laser (PYL). Likewise, it does not require a heavy and oversized system, as in the copper bromide laser or a cooling apparatus, as in the IPL laser system, which makes PYL superior to these treatment modalities. We reviewed the most recent studies to evaluate the role of PYL in the treatment of vascular and non-vascular skin diseases and the evidence for efficacy or the lack of such evidence. We provided up-to-date details on the use of PYL to treat both vascular and non-vascular skin conditions, including facial telangiectasia, poikiloderma of civatte, facial erythema, keratosis pilaris rubra, port-wine stain, venous lake, spider angioma, cherry angioma, hemangioma, genital angiokeratoma, Becker’s nevus, melasma, rosacea, post-acne erythema, and vulvar syringoma, ephelides, solar lentigines, and onychomycosis.

  • Research Article
  • 10.25259/csdm_164_2025
Dermatologists’ perspectives on daily gentle exfoliation for sensitive and oily/acne-prone skin: Insights from a national survey
  • Nov 26, 2025
  • Cosmoderma
  • Anupam Das + 2 more

Objectives: Sensitive skin, now recognized as a distinct clinical phenotype, affects nearly 60–70% of women and 50–60% of men globally, with Indians reporting among the highest levels of skin sensitivity. Patients with sensitive and oily/acne-prone skin often experience compromised barrier function, heightened reactivity, and pigmentation concerns, necessitating gentle yet effective skincare strategies. Exfoliation plays a critical role in epidermal renewal and pigmentation control, but conventional methods risk irritation and post-inflammatory hyperpigmentation in melanin-rich populations. To address this, micro-dosed combinations of alpha-hydroxy acids, beta-hydroxy acids, and polyhydroxy acids have emerged as promising options for safe daily exfoliation. This survey aimed to evaluate the clinical positioning of the Cetaphil Gentle Exfoliating salicylic acid (SA) range, discern formulation preferences, and identify perceived challenges and opportunities. Materials and Methods: A cross-sectional, structured questionnaire-based survey was conducted among 106 dermatologists attending DERMACON 2025. Participants received a scientific briefing on the Cetaphil Gentle Exfoliating SA range (cleanser and lotion) before completing an eight-item survey. Questions explored therapeutic use, formulation preferences, potential indications, and clinical reservations. Responses were anonymized and analyzed using descriptive statistics, while open-ended feedback was thematically categorized. Results: Most dermatologists (88.7%) identified oily and acne-prone skin as the primary indication for daily gentle exfoliation, highlighting its role in sebum regulation, comedogenesis prevention, and texture improvement. Notably, 63.2% also endorsed its use in sensitive skin, reflecting increasing confidence in micro-dosed exfoliant formulations. Additional reported indications included keratosis pilaris (29.2%), post-inflammatory pigmentation, rough/bumpy skin, and post-acne maintenance. Nearly half of the respondents (46.2%) preferred a dual regimen combining cleanser and lotion, citing synergistic benefits of cleansing, exfoliation, hydration, and extended contact time. Cleanser-only use was favored by 31.1%, primarily for simplicity and compliance, while 16.9% preferred the lotion alone. Only 5.7% of dermatologists avoided exfoliation, typically in patients with active dermatitis or marked barrier compromise. Concerns raised included the need for India-specific clinical data ( n = 17), differentiation from cosmetic exfoliants ( n = 9), and guidance on combining with other actives such as retinoids ( n = 6). Conclusions: Indian dermatologists demonstrated strong acceptance of daily, gentle chemical exfoliation for oily/acne-prone and sensitive skin, with a clear preference for combination regimens that balance efficacy with barrier support. The incorporation of mandelic acid, salicylic acid, and gluconolactone in low concentrations was perceived as an innovation enabling safe exfoliation in populations historically considered high risk. These findings highlight a paradigm shift toward barrier-preserving exfoliation strategies in Indian dermatology practice and reinforce the therapeutic potential of micro-dosed acid formulations for sensitive and acne-prone skin, while addressing evidence gaps specific to Indian skin types.

  • Research Article
  • 10.4103/aam.aam_223_25
Familial Woolly Hair.
  • Nov 5, 2025
  • Annals of African medicine
  • Shrishti Singh + 2 more

A 10-year-old Indian female presented with persistently short, sparse scalp hair since birth, with no subsequent growth. Clinical examination revealed tightly coiled, light-colored, and diffusely thinned scalp hair, along with partial loss of the lateral third of the eyebrows. The disease is a rare genetic disorder characterized by structural abnormalities of the hair shaft, presenting as tightly curled hair, and exists in two primary forms: autosomal dominant hereditary woolly hair and the rarer autosomal recessive familial woolly hair. It has also been associated with keratosis pilaris, canaliform nail dystrophy, interdental spacing, recurrent bullous impetigo, and a few diseases like Naxos disease and Carvajal syndrome. This rare case, involving multiple siblings in an Indian setting, highlights the clinical spectrum of congenital woolly hair and underscores the need for further genetic investigations to elucidate its molecular basis.

  • Research Article
  • 10.1007/s13555-025-01568-y
The Impact of Bariatric Surgery on the Development and Progression of Dermatologic Diseases: A Narrative Review.
  • Oct 17, 2025
  • Dermatology and therapy
  • Mateusz Matwiejuk + 4 more

Obesity is a major global health concern characterized by excessive fat accumulation, which significantly increases the risk of numerous comorbidities. While lifestyle modifications and pharmacotherapy are commonly employed, bariatric surgery is recognized as a highly effective treatment option. These procedures alter gastrointestinal anatomy, restricting food intake and modifying nutrient absorption, thereby reducing hunger and increasing satiety. Beyond weight reduction, bariatric surgery can improve or resolve obesity-related conditions, including type2 diabetes, hypertension, sleep apnea, and dyslipidemia. In addition to obesity, patients undergoing bariatric surgery frequently present with diverse skin disorders, such as hidradenitis suppurativa, psoriasis, necrobiosis lipoidica, skin tags, acanthosis nigricans, striae, keratosis pilaris, hyperhidrosis, plantar hyperkeratosis, intertrigo, pseudoacanthosis nigricans, lymphedema, bacterial infections, and confluent and reticulated papillomatosis. Bariatric surgery has been reported to improve or resolve conditions such as acanthosis nigricans, confluent and reticulated papillomatosis, necrobiosis lipoidica, hidradenitis suppurativa, psoriasis, hirsutism, skin tags, intertrigo, keratosis pilaris, and pebble fingers. Conversely, it may precipitate or exacerbate other conditions, including xeroderma, sporotrichosis, prurigo pigmentosa, bowel-associated dermatitis-arthritis syndrome, pellagra, disseminated intravascular coagulation, purpura, vasculitis, panniculitis, and alopecia. The relationship between obesity, weight loss, and skin health in patients undergoing bariatric surgery is complex, involving mechanisms such as inflammation, hormonal alterations, and mechanical stress on the skin. This study aims to investigate the effects of bariatric surgery on the progression and development of skin disorders, evaluating both potential improvements and the emergence of new conditions postoperatively. In summary, bariatric surgery exerts multifaceted and sometimes conflicting effects on skin health.

  • Research Article
  • 10.70070/eh4b9m05
Evaluating the Evidence for a Link Between Glycemic Control and Keratosis Pilaris in Type 2 Diabetes: A Systematic Review
  • Oct 14, 2025
  • The International Journal of Medical Science and Health Research
  • Gede Agus Indra Pramana + 1 more

Introduction: Type 2 Diabetes Mellitus (T2DM) is a systemic metabolic disorder frequently associated with a wide spectrum of cutaneous manifestations, which often reflect the underlying degree of glycemic control. Keratosis pilaris (KP), a common benign disorder of follicular keratinization, has been anecdotally linked to metabolic disturbances such as obesity and insulin resistance. However, a direct, evidence-based correlation between glycemic control, measured by glycated hemoglobin (HbA1c), and the severity of KP in the T2DM population has not been systematically evaluated, representing a significant gap in the literature. Methods: A systematic review was conducted following PRISMA guidelines. PubMed, Google Scholar, Semanthic Scholar, Springer, Wiley Online Library databases were searched for observational studies published up to October 2024. The primary search sought studies directly correlating HbA1c levels with KP severity in adult T2DM patients. Due to the absence of such studies, the search was broadened to include studies assessing KP in populations with related metabolic conditions (obesity, metabolic syndrome, insulin resistance). The Risk of Bias in Non-randomized Studies of Interventions (ROBINS-I) tool was used for quality assessment. Results: The systematic search yielded no studies that directly investigated the correlation between HbA1c levels and KP severity in patients with T2DM. The review of broadened search results included 16 observational studies. These studies demonstrated a high prevalence of KP in populations with metabolic dysregulation, with rates of 42% to 64.7% reported in obese cohorts. Crucially, one study identified a statistically significant association between KP and the Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) score in obese adolescents (). Other studies, however, did not find a significant link between KP and insulin levels, highlighting inconsistencies in the existing indirect evidence. Discussion: The principal finding of this review is the definitive lack of direct evidence on the topic, which constitutes a critical research gap. Despite this, a strong biological rationale for a positive correlation is proposed, synthesized from indirect clinical and basic science evidence. Pathophysiological pathways involving hyperglycemia-induced Advanced Glycation End Products (AGEs) are known to impair keratinocyte differentiation and skin barrier function. Concurrently, compensatory hyperinsulinemia in T2DM can activate Insulin-like Growth Factor-1 (IGF-1) receptors on follicular keratinocytes, promoting hyperproliferation—a key pathological feature of KP. This dual mechanism suggests that poor glycemic control could both initiate and exacerbate the follicular hyperkeratosis characteristic of KP. Conclusion: While direct clinical evidence is currently absent, a compelling, mechanistically plausible link exists between poor glycemic control in T2DM and the severity of Keratosis Pilaris. This review highlights the urgent need for well-designed observational studies to investigate this association. If confirmed, KP could serve as a readily observable cutaneous marker for underlying insulin resistance or deteriorating glycemic control, prompting earlier clinical intervention.

  • Research Article
  • 10.1684/ejd.2025.4951
Keratosis pilaris: a systematic review of the literature and strategies for optimal treatment.
  • Oct 1, 2025
  • European journal of dermatology : EJD
  • Anne Beyron

Keratosis pilaris is a benign and prevalent dermatological condition, clinically characterized by erythematous and hyperpigmented papules with a rough texture. Its appearance on exposed areas, such as the extensor surfaces of upper arms, can lead to psychosocial distress. Despite the range of available topical and laser therapies, no standardized approach exists for selecting one treatment over another. This updated systematic review aims to provide innovative strategies for the therapeutic management of common keratosis pilaris. Twenty-seven articles published between 2011 and 2024 were included. The selected studies comprised monotherapies (topical or laser), comparative analyses, and combination treatments. Lactic and glycolic acids were the preferred topicals, demonstrating efficacy in the treatment of keratosis pilaris. The Nd:YAG laser yielded consistently favourable outcomes. Among ablative lasers, the CO2 laser showed efficacy, while the erbium:YAG appeared promising due to fewer adverse effects. The management of keratosis pilaris involves a multimodal strategy centred on patient education, topical treatments and laser therapies. To address the diverse clinical features of the condition, we propose a stepwise, stratified therapeutic approach.

  • Research Article
  • 10.19746/j.cnki.issn.1009-2137.2025.05.033
Clinical Analysis of Cutaneous Chronic Graft-Versus-Host Disease Post-Allogeneic Hematopoietic Stem Cell Transplantation in Childhood
  • Oct 1, 2025
  • Zhongguo shi yan xue ye xue za zhi
  • Yu-Xian Wang + 9 more

To investigate the clinical features and risk factors associated with cutaneous chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children. A retrospective analysis was conducted on the clinical data of children who underwent allo-HSCT in the Wuhan Children's Hospital from August 1, 2016, to December 31, 2023, and were regularly followed up for 1 year or more. The differences in clinical features between children with and without cutaneous cGVHD were compared, and the risk factors affecting the occurrence of cutaneous cGVHD were analyzed. During the study period, 296 children received allo-HSCT. Until December 31, 2024, follow-up showed that 20 children (6.8%) developed cutaneous cGVHD, which manifested as cutaneous lichenification, hyperpigmentation, keratosis pilaris, sclerotic changes, and hair or nail involvement. According to their skin lesion area and degree of grading, 5 cases were mild, 10 cases were moderate, and 5 cases were severe. Multivariate logistic regression analysis revealed that female donors and previous acute GVHD were risk factors for the development of cutaneous cGVHD after allo-HSCT. All 20 children were treated with glucocorticoid ± calcineurin inhibitors (tacrolimus/cyclosporine) as first-line therapeutic agents. Only 1 child improved after first-line treatment. The remaining 19 children treated with a second-line regimen of combination interventions based on individualized status, including 10 children who could not tolerate hormonotherapy or first-line treatment, and showed no significant improvement after 3 months, as well as 9 children with multi-organ cGVHD. After comprehensive second-line treatment, 17 children showed improvement in cutaneous symptoms. There were 3 deaths, including 1 due to primary disease recurrence and 2 due to pulmonary infections. The skin is the first manifestation and most common organ involved in cGVHD in children. Cutaneous cGVHD severely affects the daily activities of transplanted children and requires prolonged immunosuppressive therapy, but has a favorable prognosis. First-line treatments for adults are not applicable to children who usually require a combination treatment with multiple drugs.

  • Research Article
  • 10.5812/jcp-160773
Cutaneous Manifestations in Children with Celiac Disease
  • Jul 10, 2025
  • Journal of Comprehensive Pediatrics
  • Mahsa Besharat + 8 more

Background: Skin manifestations are significant extra-intestinal symptoms of celiac disease (CD), and dermatologic disorders are more prevalent among CD patients than in the normal population. Objectives: The present study aimed to investigate the skin manifestations in children with CD. Methods: This cross-sectional study was conducted on patients under 18 years with CD registered at the Celiac Registry Center, Golestan Research Center of Gastroenterology and Hepatology, between April and July 2023. Participants were examined by a dermatologist attending the research center as scheduled. The skin manifestations were categorized according to their types, location, duration, and distribution. All data were analyzed using SPSS version 26 to show central and distributive indices. Quantitative data were reported as mean (standard deviation), and categorical data were reported as number and percent. Results: A total of 39 children (53.8% female) were included in the study. The mean (SD) age of the patients was 9.84 (4.41) years. The mean (SD) duration of disease and initiation of the gluten-free diet (GFD) was 4.24 (2.64) years. Thirty-seven (94.8%) children had at least one lesion, with the most common locations being the face (16.8%) and limbs (14.4%). In examining the course of the disease, 96.4% of the patients had a chronic course, and in 15.5% of them, the distribution was symmetric. The most frequent types among 83 cutaneous findings were dry skin (20.4%), pityriasis alba (15.6%), and keratosis pilaris (12%). Conclusion: Most children with CD experienced skin problems. The small sample size, lack of a validated scale for adherence to GFD, and absence of a healthy control group limited the generalizability of the findings.

  • Research Article
  • 10.1007/s00403-025-04297-6
Disproportionality analyses of Tapinarof-related adverse events based on the FAERS database.
  • Jun 9, 2025
  • Archives of dermatological research
  • Xia Huang + 2 more

Tapinarof, a novel topical aryl hydrocarbon receptor (AhR) modulator, has demonstrated promising therapeutic efficacy in the treatment of plaque psoriasis. However, its comprehensive safety profile in real-world settings remains underexplored. To assess the post-marketing safety of Tapinarof using data from the FDA Adverse Event Reporting System (FAERS), with a focus on identifying significant adverse event (AE) signals and subgroup-specific risks. A retrospective disproportionality analysis was conducted on FAERS data from Q2 2022 to Q4 2024. Reports listing Tapinarof as the primary suspect drug were extracted and analyzed using four established signal detection algorithms (ROR, PRR, EBGM, IC), complemented by Bonferroni correction for multiple comparisons. A total of 1,227 AE reports were included. The majority of reports originated from adults aged 18-64 years and were submitted by healthcare professionals, with a balanced male-to-female ratio. The most frequently observed AE signals were related to skin and subcutaneous tissue disorders, including keratosis pilaris, contact dermatitis, and application site acne. Notable signals were also detected for infections (e.g., pustules) and hypersensitivity reactions. A novel tumor-related signal was identified for keratoacanthoma, with statistically significant associations also observed for squamous cell carcinoma of the skin. Gender subgroup analysis revealed a higher incidence of dermatological AEs in females and slightly stronger neoplasm-related signals in males. Age, weight, and indication data were largely missing, limiting subgroup-specific interpretation. Tapinarof is generally well tolerated in adults, particularly for psoriasis treatment, but is associated with strong cutaneous and immune-related AE signals. Novel findings-including pharyngeal swelling and tumor-related events-warrant heightened clinical vigilance, especially in patients requiring long-term or large-area application. Gender differences in AE reporting further underscore the need for personalized risk management strategies. Further longitudinal and mechanistic studies are essential to confirm these associations and guide safer clinical use.

  • Research Article
  • 10.36185/2532-1900-1028
Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.
  • Jun 1, 2025
  • Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
  • Wilmer Santiago Herrera Malpica + 4 more

Bethlem myopathy (BM) is a collagen-VI-related myopathy caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by proximal muscle weakness, distal joint laxity, and contractures, with symptoms appearing during childhood and progressing slowly. Muscle ultrasound, using tools like the Heckmatt scale, complements genetic analysis and provides noninvasive insights into muscle pathology, particularly in atypical presentations. An 8-year-old male presented with muscle weakness since birth, delayed motor milestones, toe walking, and frequent falls. Family history revealed maternal-line neuromuscular disorders. Clinical examination showed hyporeflexia, thoracic hypotrophy, and decreased proximal muscle strength, alongside joint hypermobility and keratosis pilaris. Electromyography indicated a myopathic pattern in proximal upper limb muscles. Genetic analysis confirmed a pathogenic COL6A1 variant (c.788G > A, p.Gly263Asp). Ultrasound findings revealed advanced structural compromise with Heckmatt grade IV echogenicity in the deltoid, iliopsoas, and rectus femoris, indicating fatty infiltration and fibrosis. Functional tests, including Motor Function Measurement (MFM), showed adequate performance despite significant structural abnormalities. This case illustrates the diagnostic challenges of BM, characterized by phenotypic variability and the complexity of correlating structural and functional findings. Muscle ultrasound findings demonstrated advanced echogenic changes, but functional performance remained preserved, highlighting a mismatch between structural changes and functional outcomes. This case highlights the diagnostic challenges of BM, where a patient with a COL6A1 gene mutation exhibited significant muscle abnormalities on ultrasound but maintained relatively preserved motor function according to the MFM scale. This discrepancy emphasizes the limitations of functional assessments like MFM in capturing the extent of muscle weakness. Ultrasound and dynamometry provided a more comprehensive evaluation, underscoring the importance of integrating structural and functional assessments for accurate diagnosis and management. This case stresses the need for an individualized approach in managing BM, considering both genetic and clinical findings.

  • Research Article
  • 10.1093/bjd/ljaf163
Evaluation of the responsiveness of the Keratosis Pilaris Investigator Global Assessment Score (KP-IGA) and composite KP Area Index (KPAI).
  • May 2, 2025
  • The British journal of dermatology
  • Pooi C Wong + 6 more

This study aimed to evaluate the responsiveness and determine minimal clinically important differences (MCIDs) of the Keratosis Pilaris Investigator Global Assessment (KP-IGA) and the composite KP Area Index (KPAI) in 16 patients undergoing laser treatment. KPAI demonstrated greater responsiveness than KP-IGA, with MCIDs of 1 and 5, respectively, and severity cut-offs of 10 for moderate and 34 for mild disease. These findings validate KP-IGA and KPAI as reliable scoring tools for KP clinical trials.

  • Open Access Icon
  • Research Article
  • 10.3390/genes16040380
Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.
  • Mar 27, 2025
  • Genes
  • Luz María González-Huerta + 6 more

Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin (FLG) gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence is 1 in 80-250 children. The phenotypic characteristics include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Our objective was to study the genetic variants in the FLG gene and their associations in patients with ichthyosis vulgaris. Here, we studied eighteen Mexican sporadic cases and four family members with IV. Steroid sulfatase (STS) enzymatic activity, polymerase chain reaction (PCR), and direct sequencing on the FLG gene were conducted. We found the recurrent heterozygous variant R501* in fifteen sporadic cases, while the other three sporadic cases showed four novel (p.Q2123R, p.H2118R, p.D2120E, p.S3970L) variants and one reported (p.Y2119H) variant; members of family 1 and 2 presented novel homozygous and heterozygous (p.S1482Y, p.P2144S) variants. This study added to the novel pathogenic variants in patients with IV and showed that the stop mutations (p.R501*) in the Mexican population are the most prevalent.

  • Research Article
  • Cite Count Icon 1
  • 10.1159/000545428
SKIN-PEDIC: A Worldwide Assessment of Skin Problems in Children and Adolescents Using Diabetes Devices.
  • Mar 24, 2025
  • Hormone research in paediatrics
  • Anna Korsgaard Berg + 21 more

Children and adolescents with diabetes are increasingly using technological devices to maintain normoglycemia. However, skin problems associated with these devices are becoming a significant issue. This study aimed to investigate prevalence of skin issues in children and adolescents with diabetes globally and identify important factors associated with these skin problems. This multinational study involved 22 pediatric diabetes centers. Over a 4-week period, pseud anonymized data were collected on children and adolescents using diabetes devices, including demographic factors, visual skin problems, type of devices and products being used. Univariate logistic regression was applied to identify associations with skin problems. A total of 1,719 children and adolescents were included. Skin problems were present in 52% of pump users compared to 30% of sensor users. Eczema was found in 9% of participants at both insulin pump and glucose sensor sites, whereas scars, wounds, and lipodystrophies were significantly more frequent at insulin pump sites than at glucose sensor sites. Both xerosis cutis and keratosis pilaris were strongly associated with almost all types of skin problems, increasing the risk 2 to fivefold. Skin problems are a serious concern that limits the use of diabetes devices in children and adolescents, consequently increasing risk for long-term complications. This study highlights the extent of the problem in a real-world setting of unselected participants despite the use of preventive strategies. Consequently, the development of more skin-friendly devices is needed to ensure that all children and adolescents with diabetes can effectively use these devices in the long term.

  • Open Access Icon
  • Research Article
  • 10.3126/njdvl.v23i1.71674
Cutaneous Manifestations in Obese Patients Attending Outpatient Department of a Tertiary Care Hospital
  • Mar 4, 2025
  • Nepal Journal of Dermatology, Venereology & Leprology
  • Shashwata Raj Pandit + 1 more

Introduction: Obesity can have many effects on skin physiology. It is involved in dermatologic diseases like acanthosis nigricans, acrochordons, keratosis pilaris, hirsutism, and striae distensae. Objectives: To determine the proportion of various cutaneous manifestations in obese patients. Materials and Methods: This cross-sectional study was conducted at the Outpatient Department of Dermatology in a tertiary care hospital. Any patients over 18 years old with a BMI greater than or equal to 30 kg/m2 attending the dermatology OPD were included. The history-taking and examination were done, and the preformed proforma was completed. Statistical analysis was done using Microsoft Excel 2016 and SPSS Version 20.0 for Windows. Results: Our study included 226 patients. The mean age of patients in our study was 37.45± 13.60 years. There were more females than males in our study. The mean BMI of patients in our study was 32.09±1.81. According to BMI, most patients fell into grade I obesity (89.4%), followed by grade II obesity with 10.6%, and there were no patients with grade III obesity. Acrochordons was the most common dermatosis seen in the study, followed by acanthosis nigricans. The dermatoses that showed a statistically significant relationship with obesity grades were plantar hyperkeratosis (P = 0.001) and lymphoedema (P = 0.0036). Conclusion: Skin diseases are so common among obese patients that they can be considered a marker for obesity.

  • Research Article
  • 10.4103/ijd.ijd_749_24
Epidemiology of Skin Diseases amongst Lowlanders in the High-Altitude Ladakh Region: A Retrospective Cross-Sectional Study
  • Jan 1, 2025
  • Indian Journal of Dermatology
  • Manas Chatterjee + 1 more

Background:Skin diseases vary in different geographical areas as per their unique environmental characteristics. High-altitude skin diseases too are very different from that of plains.Aim:This study was undertaken to see the incidence and nature of skin diseases amongst temporary residents (soldiers) in the Ladakh region of India and their comparison with their native colleagues (soldiers) posted in the same area.Methods:The present study is a retrospective study wherein dermatology OPD data from a military hospital situated in Leh city were analyzed over 18 months period from September 2021 till February 2023.Results:Out of a total of 1832 patients, 1528 (83.40%) were lowlanders and 304 (16.60%) were native highlanders with a mean age of 32.5 years, ranging between 21 and 68 years. Appendageal disorders (25.10%) were the most common overall and in both groups. Infections/infestations (18.17%) were the second most common overall and in lowlanders, but in native highlanders, photodermatoses were the second most common disorders. Other disorders reported were eczemas (16.75%), photodermatoses (12.5%), pigmentary disorders (7.75%), papulosquamous disorders (5.34%), urticaria (5.02%), benign skin tumours (4.36%), keratinisation disorders (2.34%), chill blains (0.55%), metabolic disorders (0.5%), and insect bite reactions (0.33%).Limitations:Inclusion of soldiers/military men only and thereby a smaller number of native highlanders exist amongst soldiers representing disease in natives for comparison.Conclusion:This study highlights higher incidence of acne, alopecia areata, PMLE, discoid eczema, ACD, and keratosis pilaris amongst lowlanders or temporary residents at high-altitude areas.

  • Research Article
  • 10.55519/jamc-s4-13064
A RARE CASE OF PACHYONYCHIA CONGENITA TYPE-1 FROM PAKISTAN
  • Dec 16, 2024
  • Journal of Ayub Medical College Abbottabad
  • Nazish Shah + 4 more

Pachyonychia congenita (PC) is a rare, genodermatosis inherited in an autosomal dominant pattern. Less than 500 cases have been reported in the literature worldwide. The disease commonly affects the nails with the typical findings of subungual hyperkeratosis and discolored nails, skin thickening of the palms and soles causing focal palmoplantar hyperkeratosis and keratoderma. In some patients, the oral mucosa may also be affected by leukokeratosis, natal teeth and hoarseness of voice. There may be the presence of keratosis pilaris, epidermal cysts and steatocystoma multiplex. We present a classical case of pachyonychia congenita type 1 that fulfils the diagnosis with the typical clinical findings of subungual hyperkeratosis, palmoplantar keratoderma and oral leukokeratosis. Our case is one of the first few cases reported from a developing country like Pakistan in the literature.

  • 1
  • 2
  • 3
  • 4
  • 5
  • 6
  • .
  • .
  • .
  • 10
  • 1
  • 2
  • 3
  • 4
  • 5

Popular topics

  • Latest Artificial Intelligence papers
  • Latest Nursing papers
  • Latest Psychology Research papers
  • Latest Sociology Research papers
  • Latest Business Research papers
  • Latest Marketing Research papers
  • Latest Social Research papers
  • Latest Education Research papers
  • Latest Accounting Research papers
  • Latest Mental Health papers
  • Latest Economics papers
  • Latest Education Research papers
  • Latest Climate Change Research papers
  • Latest Mathematics Research papers

Most cited papers

  • Most cited Artificial Intelligence papers
  • Most cited Nursing papers
  • Most cited Psychology Research papers
  • Most cited Sociology Research papers
  • Most cited Business Research papers
  • Most cited Marketing Research papers
  • Most cited Social Research papers
  • Most cited Education Research papers
  • Most cited Accounting Research papers
  • Most cited Mental Health papers
  • Most cited Economics papers
  • Most cited Education Research papers
  • Most cited Climate Change Research papers
  • Most cited Mathematics Research papers

Latest papers from journals

  • Scientific Reports latest papers
  • PLOS ONE latest papers
  • Journal of Clinical Oncology latest papers
  • Nature Communications latest papers
  • BMC Geriatrics latest papers
  • Science of The Total Environment latest papers
  • Medical Physics latest papers
  • Cureus latest papers
  • Cancer Research latest papers
  • Chemosphere latest papers
  • International Journal of Advanced Research in Science latest papers
  • Communication and Technology latest papers

Latest papers from institutions

  • Latest research from French National Centre for Scientific Research
  • Latest research from Chinese Academy of Sciences
  • Latest research from Harvard University
  • Latest research from University of Toronto
  • Latest research from University of Michigan
  • Latest research from University College London
  • Latest research from Stanford University
  • Latest research from The University of Tokyo
  • Latest research from Johns Hopkins University
  • Latest research from University of Washington
  • Latest research from University of Oxford
  • Latest research from University of Cambridge

Popular Collections

  • Research on Reduced Inequalities
  • Research on No Poverty
  • Research on Gender Equality
  • Research on Peace Justice & Strong Institutions
  • Research on Affordable & Clean Energy
  • Research on Quality Education
  • Research on Clean Water & Sanitation
  • Research on COVID-19
  • Research on Monkeypox
  • Research on Medical Specialties
  • Research on Climate Justice
Discovery logo
FacebookTwitterLinkedinInstagram

Download the FREE App

  • Play store Link
  • App store Link
  • Scan QR code to download FREE App

    Scan to download FREE App

  • Google PlayApp Store
FacebookTwitterTwitterInstagram
  • Universities & Institutions
  • Publishers
  • R Discovery PrimeNew
  • Ask R Discovery
  • Blog
  • Accessibility
  • Topics
  • Journals
  • Open Access Papers
  • Year-wise Publications
  • Recently published papers
  • Pre prints
  • Questions
  • FAQs
  • Contact us
Lead the way for us

Your insights are needed to transform us into a better research content provider for researchers.

Share your feedback here.

FacebookTwitterLinkedinInstagram
Cactus Communications logo

Copyright 2026 Cactus Communications. All rights reserved.

Privacy PolicyCookies PolicyTerms of UseCareers