69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
7 citations
,
October 2020 in “INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH” This study found that stress plays a significant role in altering phenotypic features and body composition among PCOS patients, potentially worsening due to the COVID-19 pandemic.
January 2025 in “Indian Dermatology Online Journal” This case report highlights an unusual presentation of mycosis fungoides with photo-exacerbated lesions and a rare CD4+/CD8+ immunohistochemical phenotype, complicating diagnosis and treatment.
November 2013 in “John Wiley & Sons, Ltd eBooks” This chapter reviews various mucocutaneous manifestations of endocrine disorders and provides illustrative images of these clinical features, but reports no new research findings.
May 2026 in “The EMBO Journal” This study explores the complex mechanisms of skin aging, including cellular senescence and disrupted communication, and highlights rejuvenation strategies like gene expression rewiring and microbiome modulation, offering potential frameworks for regenerative therapies and precise interventions in skin and systemic aging.
3 citations
,
January 2012 in “Elsevier eBooks” Burn scars form abnormally due to changes in wound healing, and more research is needed to improve treatments.
April 2026 in “JOJ Dermatology & Cosmetics” This review highlights that effective management of PCOS-related dermatological issues, such as hirsutism and acne, requires a multidisciplinary approach involving hormonal therapies, metabolic interventions, and lifestyle changes.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” This review discusses insights into the role of lipase H in controlling hair form and texture, emphasizing genetic mutations linked to autosomal recessive woolly hair/hypotrichosis, and reports no new experimental results.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
56 citations
,
October 2010 in “Pediatric Clinics of North America” This article discusses various types of epidermal nevi and associated syndromes but presents no new research findings.
7 citations
,
January 2023 in “Frontiers in Cell and Developmental Biology” This review provides a comprehensive overview of apoptosis-related molecules in head development, highlighting caspases' roles and associated abnormalities in tissues like the brain, sensory organs, skin, and bones, without reporting new results.
1 citations
,
November 2023 in “Pathogens” This study detected sarcoptic mange in five free-ranging raccoon dogs in Schleswig-Holstein, Germany, with four showing severe skin lesions and potential secondary bacterial infections, suggesting they may act as vectors in disease spread.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
1540 citations
,
October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
July 2015 in “Cambridge University Press eBooks” The document concludes that careful history and physical exams are crucial for accurately diagnosing polycystic ovary syndrome and distinguishing it from other similar conditions.
97 citations
,
July 2006 in “Dermatologic therapy” This article reviews the diagnosis and treatment approaches for cutaneous manifestations of PCOS, reporting on various treatment options without presenting new clinical results.
26 citations
,
July 2007 in “Biochemical Pharmacology” This study found that phenyl-imidazole sulfonamide derivatives, particularly ISCK03, inhibited c-kit signaling and promoted depigmentation in various experimental settings, suggesting potential use as skin-whitening agents.
21 citations
,
June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.
1 citations
,
February 2004 in “Journal of The European Academy of Dermatology and Venereology” This paper reports a case of alopecia triangularis congenita in a 22-year-old woman, combined with androgenetic alopecia, and highlights successful treatment with internal and topical antiandrogens.