43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
14 citations
,
January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
15 citations
,
November 2002 in “Cardiology in Review” This review discusses various adverse skin reactions linked to cardiovascular medications and reports no new clinical results, highlighting the need for vigilance when prescribing these drugs.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
January 2011 in “Elsevier eBooks” Alopecia in animals can be hereditary, congenital, or acquired, with treatments and outcomes varying widely.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
5 citations
,
September 1986 in “Pediatric Dermatology” This study reported a previously undescribed form of hereditary hypotrichosis in a family, characterized by childhood-onset hair loss, morphea, and probable autosomal dominant inheritance.
25 citations
,
January 2005 in “Pediatric Dermatology” This article discusses the use of methotrexate for treating generalized pustular psoriasis in a 2-year-old child, providing a specific case study but reporting no new clinical results.
This chapter reviews the clinical features, diagnosis, treatment, and prognosis of various non-hormonal, non-infectious alopecias without providing new clinical findings.
21 citations
,
January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
7 citations
,
July 2011 in “Survey of Ophthalmology” This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
58 citations
,
October 2001 in “Dermatologic Clinics” This review discusses the categorization of hair loss and increased hair density disorders related to systemic diseases and reports no clinical results, emphasizing the potential diagnostic value of history, physical examination, and histopathologic data.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
24 citations
,
July 2011 in “PubMed” This review discusses the classic skin characteristics of hypothyroidism, notably generalized myxedema caused by increased glycosaminoglycan deposition, and reports no clinical results.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
8 citations
,
March 2023 in “British Journal of Dermatology” This review highlights the significant role of next-generation sequencing in uncovering the genetic basis of hair disorders, identifying 28 nonsyndromic conditions linked to specific genes.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.
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.
10 citations
,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
19 citations
,
March 1988 in “International Journal of Dermatology” This paper reviews different types of hair shaft dysplasias and does not report any new clinical findings.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
1 citations
,
August 2005 in “British Journal of Dermatology” This case report describes a 7-year-old girl who developed widespread erythroderma and systemic symptoms after ingesting clobetasone butyrate cream, despite previous psoriasis treatment.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.