3 citations
,
June 2002 in “PubMed” This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
2 citations
,
January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
2 citations
,
April 2015 in “Journal of Evolution of Medical and Dental Sciences” This study found that patients with hypothyroidism at a tertiary hospital in South India most commonly exhibited skin dryness (xerosis/ichthyosis) and swelling of the feet (pedal oedema).
2 citations
,
November 2024 in “Acta Dermato Venereologica” In this case report, researchers describe an adult patient with CHILD syndrome whose skin lesions were successfully managed with topical ketoconazole, marking the first known instance of using this treatment without recurrence during follow-up.
2 citations
,
December 2023 in “International journal of molecular sciences” This study reviews the complex keratinization process in the epidermis, detailing how various factors regulate keratinocyte differentiation and emphasizing the importance of understanding this process for the pathogenesis of skin disorders like ichthyoses and psoriasis.
1 citations
,
February 2013 in “InTech eBooks” 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.
1 citations
,
October 1996 in “Journal of Cutaneous Medicine and Surgery” This review discusses the advancements needed for gene therapy to become commonly used in dermatology and reports no new clinical results.
1 citations
,
July 2025 in “Frontiers in Genetics” In this study, researchers classified melanomas by filaggrin expression levels and found that in filaggrinHigh melanomas, there are significant changes in FGFR signaling and impaired GNA14 and Th1 signatures, linked to genetic and immune alterations associated with pruritus.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
1 citations
,
January 2012 in “Juntendō Igaku/Juntendo igaku” 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.
July 2026 in “Clinical Cosmetic and Investigational Dermatology” 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.
June 2026 in “British Journal of Dermatology” 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.
April 2026 in “Human Genome Variation” 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.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” 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.
July 2025 in “Journal of Cutaneous Pathology” 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.
April 2025 in “Revista Digital de Postgrado” 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.
November 2023 in “Global Medical Genetics” 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.
August 2023 in “Acta Scientific Paediatrics” 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.
January 2023 in “Indian dermatology online journal” 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.
December 2021 in “Folia veterinaria” 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.
July 2021 in “Rossiiskii Zhurnal Kozhnykh i Venericheskikh Boleznei” 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.
April 2020 in “Clinical Small Animal Internal Medicine” This chapter reviews various rare skin diseases in animals, focusing on their causes, symptoms, diagnosis, and treatment, but provides no new clinical findings.
January 2019 in “Revista Medicina Cutánea Ibero-Latino-Americana” 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 various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
This chapter reviews fungal skin diseases in goats and their hereditary aspects, but it does not present new experimental results.
December 2017 in “Annales de dermatologie et de vénéréologie” 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'.