23 citations
,
January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
15 citations
,
October 2006 in “Journal of the American Academy of Dermatology” This case report describes subcutaneous emphysema in a patient's forearm as a rare complication of liquid nitrogen spray used on hypertrophic actinic keratosis, resolving spontaneously within a day.
3 citations
,
January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
3 citations
,
October 2019 in “CRC Press eBooks” This review discusses isotretinoin's effectiveness against severe acne vulgaris and its associated side effects, including teratogenicity and hair loss, but it reports no new experimental results.
2 citations
,
February 2021 in “European Journal of Plastic Surgery” This study found that the Fibonacci 'snail' flap for scalp defect reconstruction healed faster and resulted in better aesthetic outcomes than skin grafts, though not all complication rate differences were statistically significant.
January 2025 in “Clinical and Medical Engineering Live” This study discusses the potential health risks associated with occupational radiation exposure, including genetic mutations, cancers, and other diseases, and outlines strategies for prevention and occupational health safety.
June 2026 in “Wiadomości Lekarskie” This study found that patients undergoing endocrine surgery commonly experienced hormonal disorders and dermatologic complications, particularly those with hormonal imbalances, highlighting the importance of dermatologic surveillance and aesthetic rehabilitation in postoperative care to improve quality of life.
January 2026 in “Quality in Sport” This review highlights that isotretinoin effectively treats acne by addressing its pathogenic mechanisms, although managing its teratogenic risk and side effects through structured monitoring is crucial for safe use.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
January 2017 in “Journal of Pakistan Association of Dermatologists” This article discusses the essential role of zinc in maintaining healthy skin and suggests that zinc deficiency can cause alopecia, ulcers, infections, and other unusual skin changes due to its impact on multiple enzymes and bodily systems.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study explores how EGFR signaling impacts skin inflammation and follicular integrity during hair eruption, aiming to identify druggable pathways to mitigate skin inflammation in cancer patients receiving EGFR inhibitors.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
87 citations
,
March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
75 citations
,
June 1999 in “Pediatric Clinics of North America” This review discusses the clinical features and therapeutic goals for teenagers with PCOS, emphasizing the need for further research into its causes and potential long-term health risks, but reports no new clinical results.
67 citations
,
September 2003 in “Journal of cutaneous pathology” This review discusses the various skin manifestations associated with end-stage renal disease and their potential causes but reports no new clinical findings; the authors emphasize pruritus as a significant condition.
61 citations
,
April 1969 in “Archives of Dermatology” This study highlights a case where progressive baldness initially diagnosed as alopecia universalis was attributed to a basal cell hamartoma of each hair follicle, stressing the importance of skin biopsies for unusual alopecia cases.
42 citations
,
October 2011 in “Seminars in Cell & Developmental Biology” This review explores the role of Eph receptors and ephrins in skin cell processes, discussing their potential for therapeutic targeting in dermatological disorders, but it presents no new research findings.
25 citations
,
September 2018 in “Molecular Biology of the Cell” This study found that in mice lacking EGFR, elevated Wnt signaling disrupts hair follicle development by affecting cell proliferation and differentiation, revealing a critical role for EGFR in regulating these processes.
16 citations
,
June 2005 in “Clinical and Experimental Dermatology” In this study of 30 severe anorexia nervosa patients, true acquired pili torti was not found although twisted hair was observed in 6.6% of cases.
13 citations
,
July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
9 citations
,
April 1985 in “Archives of Dermatology” This case report describes a 7-year-old boy with Netherton's syndrome, highlighting the identification of the tricorrhexis invaginata hair defect using a photographically illustrated scalp biopsy, which had not been visually documented before.
7 citations
,
November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
4 citations
,
March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
July 2018 in “Elsevier eBooks” This chapter details the causes and diagnostic process of pediatric alopecia, including trichoscopic findings, but reports no new clinical results.
September 1995 in “American Journal of Contact Dermatitis” Antiyeast treatments work better for seborrheic dermatitis than steroids, and other findings include increased skin bacteria under plastic wrap, a nasal cell defect in Staphylococcus aureus carriers, quick resolution of certain skin reactions, high rubber latex allergy in spina bifida patients, and glyceryl monopentadecanoate's effectiveness for male hair loss.
January 2026 in “International Journal of Innovative Technologies in Social Science” This review synthesizes information on isotretinoin’s systemic toxicity, emphasizing that its adverse effects, including mucocutaneous, hepatic, and musculoskeletal reactions, primarily reflect its pharmacodynamic actions and are generally manageable with individualized dosing and monitoring, though its teratogenicity remains a significant safety concern.