3 citations
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November 2019 in “The American Journal of Dermatopathology” This study found that multiple eccrine duct dilation is highly specific for diagnosing cicatricial alopecia and may indicate scarring processes, aiding in accurate differential diagnosis from noncicatricial alopecias.
10 citations
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January 1995 in “Dermatology” This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
August 2022 in “Journal of Pakistan Association of Dermatologists” This case report describes a 7-year-old female from the Middle East with monilethrix, highlighting the disease's rarity in this population, characterized by brittle, sparse hair and keratosis pilaris.
March 2021 in “Annals of King Edward Medical University” This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
15 citations
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March 2009 in “Pediatric dermatology” This case report documents a novel occurrence of bilateral trichomegaly with alopecia areata in a healthy 3-year-old girl, without known underlying health conditions or medication use.
40 citations
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January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
1 citations
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August 1988 in “Journal of The American Academy of Dermatology” This study describes a unique case of hair transplantation between monozygotic twins to address congenital, nonprogressive alopecia caused by follicular aplasia in one twin.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
June 2018 in “Journal of evolution of medical and dental sciences” In this study, polycystic ovarian disease was identified as a prevalent chronic endocrinopathy among women of reproductive age, with common dermatological symptoms such as hirsutism, acne, and androgenic alopecia.
1 citations
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June 2022 in “Movement disorders clinical practice” This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.
April 2020 in “Journal of the Endocrine Society” This case report describes a rare occurrence of giant bilateral adrenal myelolipomas in a 28-year-old female with CAH, emphasizing that large, hormonally active, or painful myelolipomas should be surgically removed.
4 citations
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January 2014 in “Indian dermatology online journal” This article discusses the genetic hair disorder monilethrix, characterized by beaded, fragile hair due to defective keratin genes, and reports no effective treatment currently available; variability in severity was noted among affected siblings.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
February 2026 in “Pediatrics in Review” This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
19 citations
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February 2013 in “Journal of Investigative Dermatology” Touch domes in human skin are complex sensory structures not directly linked to hair.
5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
49 citations
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April 2007 in “Pediatric Dermatology” This study describes a family with uncombable hair syndrome, suggesting autosomal dominant inheritance, and reports that oral biotin improved hair appearance in two young patients.
45 citations
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April 2009 in “Journal of anatomy” This study examined the complex morphology of the cornified claw sheath in domesticated cats, uncovering structures and growth patterns that help maintain sharp claw tips essential for climbing and prey capture.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
1 citations
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November 2014 in “British journal of medicine and medical research” This study investigated the inheritance patterns of PCOS and found that 33% of participants had metabolic syndrome, which was more prevalent in first-generation relatives.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
5 citations
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October 2012 in “The Journal of Dermatology” This letter to the editor presents two new cases of traumatic panniculitis with localized hypertrichosis and provides clinical considerations, but it does not report experimental findings.
October 2021 in “Journal of Investigative Dermatology” This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.