195 citations
,
November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
9 citations
,
December 2015 in “Journal of Dermatological Case Reports” A 12-year-old with ichthyosis linearis circumflexa showed significant improvement after 30 sessions of narrowband UVB phototherapy, as reported in this case study.
9 citations
,
July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
37 citations
,
March 2005 in “Journal of Paediatrics and Child Health” This case report and review discuss hair-thread tourniquet syndrome in a 14-year-old autistic child, highlighting its rarity and the misconception of it being linked to abuse or socio-cultural practices.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
175 citations
,
August 1997 in “Nature Genetics” 68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
5 citations
,
February 2016 in “Sultan Qaboos University medical journal” This case report describes a patient with a severe pruritic rash and hair loss in both axillary regions, with no fluorescence under a Wood's lamp and hair follicle-centred papules observed through dermoscopy.
5 citations
,
May 2015 in “JRSM open” If a child is losing a lot of eyelashes and it keeps happening, doctors should look carefully at their health history because it might be a sign of a different health problem.
26 citations
,
January 1983 in “PubMed” This study reports that despite normal cystine incorporation into hair follicles, trichothiodystrophy patients have decreased cystine levels in hair shafts, contradicting the hypothesis of defective transport in hair follicles.
8 citations
,
March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
11 citations
,
December 2010 in “Archives of Dermatology” This abstract provides no research results, focusing instead on navigation and subscription details for JAMA Dermatology content access.
1 citations
,
January 2018 in “International Journal of Trichology” This report discusses the characteristics of circle hairs, a type of body hair growth disorder, and emphasizes the value of trichoscopy for diagnosis.
193 citations
,
May 2008 in “Development” This study found that activating β-catenin signaling in embryonic epidermis promoted hair follicle characteristics at the expense of normal epidermal differentiation, leading to early pigmentation and innervation.
23 citations
,
July 1994 in “Journal of Dermatological Science” This study found that the twisted hair shafts characteristic of pili torti may result from uneven outer root sheath cell development, leading to irregular hair shaft modeling and twisting.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This case report describes a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy due to a SLC39A4 genetic mutation, showing clinical improvement in skin, hair, and zinc levels following zinc supplementation and highlighting the importance of early diagnosis and tailored treatment.
85 citations
,
February 1989 in “Journal of The American Academy of Dermatology” This case report describes a newly identified condition called loose anagen hair of childhood, characterized by easily pluckable hair in two young boys, with variable duration and no scalp inflammation or scarring.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
17 citations
,
January 2013 in “Journal of Cutaneous Pathology” This study reported that the concept of the onychodermis, defined by CD10 expression, is present in the developing nail organ and may play a role in nail plate formation.
March 2025 in “International Journal of Trichology” This case study reported that a 15-year-old female developed acquired localized trichorrhexis nodosa, a hair shaft disorder, due to vigorous rubbing of an herbal powder on her scalp as part of local cultural practices.
July 2022 in “Dermatology Reports” This report details a case of a 58-year-old male diagnosed with erosive pustular dermatosis of the scalp, which improved following 3-5 weeks of treatment with topical clobetasol proprionate.
July 2025 in “Dermatology Reports” This report presents a rare case of discoid lupus erythematosus in a Saudi woman, highlighting the need for dermatologists to recognize atypical presentations to prevent misdiagnosis and treatment delays.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
October 2024 in “Frontiers in Oncology” This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
1 citations
,
February 2022 in “Online journal of biological sciences” This article reviews the congenital disorder aphallia, describing its rarity, clinical characteristics, and the normal hormonal and chromosomal profiles of affected individuals, but does not report new research findings.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.