23 citations
,
May 2024 in “Bioactive Materials” This review outlines recent advancements in biomimetic materials for skin regeneration, emphasizing their potential to mimic tissue structures and regulate physiological processes, and discusses future directions involving novel technologies like artificial intelligence and in situ reprogramming.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
20 citations
,
June 2010 in “Dermatology Online Journal” This report describes a case of hypozincemia type-II in an exclusively breast-fed infant, which resolved with zinc therapy and weaning, highlighting genetic factors in zinc transporter gene SLC30A2.
20 citations
,
January 1979 in “Journal of Experimental Zoology” In this study, epilation in female rats generally accelerated hair eruption, especially in successive cycles, with variations influenced by hormonal treatments and timing within the hair growth cycle.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
17 citations
,
May 2025 in “MedComm” This review highlights how organoid technology is transforming precision medicine by summarizing its development and applications in modeling diseases, testing drug efficacy, and tailoring patient-specific treatments, despite current challenges in standardization and ethical considerations.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
13 citations
,
January 2019 in “Colloids and Surfaces B: Biointerfaces” This study found that incorporating a block copolymer significantly alters the size and morphology of niosome drug delivery systems made of non-ionic surfactants and cholesterol, affecting their stability.
13 citations
,
June 1984 in “Postgraduate Medicine” This article discusses various pruritic dermatoses that can occur during pregnancy, emphasizing the importance of physician skill in diagnosing and treating these conditions; it reports no new findings.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
11 citations
,
March 2016 in “Journal of the European Academy of Dermatology and Venereology” In this study, nearly all predialysis chronic kidney disease patients had at least one dermatologic finding, with xerosis being the most common, highlighting the prevalence and diversity of skin issues in this population.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
10 citations
,
January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
8 citations
,
November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
5 citations
,
January 2025 in “Burns & Trauma” This review highlights recent research using single-cell RNA sequencing and machine learning in wound healing, revealing significant insights into fibroblast diversity, immune cell dynamics, and the spatial organization of cells, which may transform therapeutic strategies for chronic wounds, fibrosis, and tissue regeneration.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
4 citations
,
January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
3 citations
,
August 2013 in “Tropical Journal of Pharmaceutical Research” This study concluded that the Box-Behnken experimental design effectively optimizes the size of finasteride nano-emulsions by assessing the impact of various experimental factors.
2 citations
,
July 2025 in “Frontiers in Veterinary Science” This review highlights that microRNAs (miRNAs) play crucial roles in hair follicle development and cycling in cashmere goats, detailing recent advances in understanding their regulatory functions and potential applications in improving cashmere fiber quality and diagnosing hair disorders.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
2 citations
,
May 2012 in “Indian drugs” This study found that a proniosomal gel formulation of finasteride increased anagen hair count in male volunteers with androgenic alopecia by 42.85% compared to the control group.
2 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.
2 citations
,
December 1997 in “Journal of The American Academy of Dermatology” The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
1 citations
,
July 2025 in “JCI Insight” This study found that Krox20 marks a diverse stem cell population in mouse hair follicles, which significantly contributes to the interfollicular epidermis and regulates epidermal homeostasis.