44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
24 citations
,
January 2000 in “Dermatology” This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
14 citations
,
March 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that serum MIF levels were significantly higher in patients with extensive alopecia areata compared to those with mild alopecia areata and healthy individuals.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
9 citations
,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” This article discusses the use of dermoscopy for diagnosing hair and scalp disorders in children and reports no new clinical results.
7 citations
,
August 2021 in “Journal of the European Academy of Dermatology and Venereology” This study suggests that early initiation of treatment in fibrosing alopecia in a pattern distribution may lead to a more favorable outcome, as evident in some patients experiencing arrested disease progression and hair regrowth.
5 citations
,
September 2017 in “Medicine” In this case report, a patient with Cronkhite-Canada Syndrome developed colon cancer and liver metastasis despite hormone therapy, highlighting the need for regular monitoring and early detection strategies.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
October 2023 in “Cognizance journal” This study explores using agent-based modeling and nutrition science to predict and treat oral and dental diseases as alternatives to traditional incarceration for managing criminal behavior, but results are not reported.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
January 2013 in “Journal of dermatology” This letter to the editor raises the possibility of a new medical entity characterized by symptoms such as poikiloderma, hyperpigmentation, alopecia, malformed bones, lymphedema, and decreased cortisol, but provides no clinical results.
156 citations
,
August 2016 in “Journal of controlled release” This review summarizes current knowledge on tight junctions in mammalian skin and their role in drug delivery and interaction with other barrier components, but reports no new experimental results.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
9 citations
,
February 2018 in “Forensic Science International” This study investigated the identity of Victor Vinnetou as Mbuyisa Makhubu using forensic facial comparison and DNA testing, but the findings were inconclusive, requiring further investigation.
4 citations
,
August 2018 in “Journal of The American Academy of Dermatology” This response article concurs with Dr. Lipner's critique that biotin supplementation is largely unsupported for routine use in dermatological conditions, with evidence mostly limited to case reports.
1 citations
,
October 2013 in “Expert Review of Dermatology” This paper reviews the differential diagnoses and diagnostic tests to distinguish alopecia areata from other types of hair loss, without providing new clinical findings.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
275 citations
,
March 1999 in “Journal of The American Academy of Dermatology” This review elaborates on the skin side effects of chemotherapy and emphasizes identifying and managing both common and life-threatening skin reactions, without presenting new clinical findings.
195 citations
,
May 2003 in “Obstetrics and gynecology (New York. 1953. Online)/Obstetrics and gynecology” This review discusses the diagnosis and treatment of hirsutism, emphasizing that a systematic evaluation can determine its cause, while combination therapy effectively manages the condition for most patients.
182 citations
,
December 2017 in “Journal of the American Academy of Dermatology” This article reviews current and emerging treatments for alopecia areata, including Janus kinase inhibitors, highlighting variability in clinical outcomes and the lack of sustained remission.