Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.

This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.

In this study, researchers classified melanomas by filaggrin expression levels and found that in filaggrin^High melanomas, there are significant changes in FGFR signaling and impaired GNA14 and Th1 signatures, linked to genetic and immune alterations associated with pruritus.

Understanding skin structure and development helps diagnose and treat skin disorders.

This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.

In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

In this article, the authors describe a successfully treated case of a newborn with ichthyosis using a neonatal protocol involving an incubator with controlled temperature and humidity, sepsis prevention, eye protection, and emollient care without keratolytics during the early neonatal period.

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

This case study reports that early genetic testing and targeted therapies, such as secukinumab, can significantly improve skin barrier function in patients with Netherton syndrome, despite persistent symptoms.

In this study, researchers at the Hospital Militar Universitario “Dr. Carlos Arvelo” found that among children under five with severe malnutrition, skin pigmentation changes and extreme thinness were the most common signs.

This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

This case study describes a previously unknown association of the PIBIDS complex with autoimmune thyroiditis and autoimmune hemolytic anemia in a five-year-old Indian child.

This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.

This review discusses the relationship between vitamin D and various skin diseases, highlighting the importance of evaluating vitamin D status and addressing deficiencies, and reports no new clinical results.

This chapter reviews various rare skin diseases in animals, focusing on their causes, symptoms, diagnosis, and treatment, but provides no new clinical findings.

This article reviews the influence of vitamin D on various dermatological diseases and suggests that vitamin D supplementation might aid in maintaining skin cell homeostasis; it reports no new clinical results.

This chapter reviews fungal skin diseases in goats and their hereditary aspects, but it does not present new experimental results.

This article reviews key developments in pediatric dermatology for 2017, including consensus recommendations, novel genetic findings, and treatment insights for conditions like psoriasis and vascular malformations, without providing new clinical trial results.

This study found that the thickness of hair is the dominant factor in resistance to rupture when exposed to dermatophytes, with women's and children's hair being less resistant than men's and adults'.

The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."

This paper reviews potential animal models for studying hidradenitis suppurativa, specifically suggesting that certain mouse models with genetic mutations might be useful, but it reports no new experimental findings.

This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.

In this study, pruritus was the most frequent skin disorder observed in hemodialyzed patients, particularly among those undergoing long-term dialysis.

This case study details the progression of a woman's skin conditions, initially diagnosed as acanthosis nigricans and later as mycosis fungoides, with changes in lesion characteristics and distribution over time.

This review discusses identifying keratosis pilaris, its common mimics, and its associated skin diseases across different skin tones but reports no new results.

In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.

In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.