January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
April 2024 in “Diagnostics” In this study, researchers found that 68% of orthodontic patients with oligodontia displayed hair disorders, such as hypotrichosis and androgenetic alopecia, highlighting trichoscopy and trichogram as valuable diagnostic tools to distinguish between isolated and syndromic forms of the condition.
This research suggests that the digit ratio, 2D:4D, is unlikely to be a significant indicator of male androgenetic alopecia, contradicting a prominent isolated finding from a previous study.
November 2023 in “International Journal of Trichology” This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
January 2017 in “IMC Journal of Medical Science” This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” This study in the Arab population of Gaza described pseudohermaphroditism due to 17β-HSD deficiency, where individuals showed marked masculinization after puberty despite inadequate androgen proportions.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
This chapter reviews the clinical and morphological diagnostic features of various hair dysplasias, including atypical pili torti, pseudomonilethrix, and trichothiodystrophy, and reports no new results.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
5 citations
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June 2008 in “British Journal of Dermatology” 46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that testicular 17β-hydroxysteroid dehydrogenase deficiency in an inbred Arab population in Israel leads to genital ambiguity at birth and progressive virilization after puberty.
21 citations
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April 2004 in “Australasian Journal of Dermatology” This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
January 2023 in “Indian dermatology online journal” This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.
July 2024 in “GLOBAL JOURNAL FOR RESEARCH ANALYSIS” In this case report, a 24-year-old North Indian male with type 1 diabetes mellitus presented with alopecia universalis, illustrating the rare simultaneous occurrence of these autoimmune diseases, which are manifestations of multiple endocrine autoimmune syndrome.
This case report documents a 44-year-old female with Down's syndrome who was diagnosed with both rheumatoid arthritis and gouty arthritis, highlighting her specific clinical presentation and treatment regimen.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
January 2018 in “Indian Dermatology Online Journal” This case report describes a rare instance of Olmsted syndrome with hypotrichosis in a 5-year-old boy, noting mild improvement in symptoms following treatment with oral acitretin and other interventions.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
1 citations
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January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
4 citations
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August 2017 in “Journal of Cosmetic Dermatology” The study found that males with androgenetic alopecia had a significantly lower left-hand 2D:4D digit ratio compared to healthy controls, suggesting this ratio may help estimate future AGA risk.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.