44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
71 citations
,
August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
46 citations
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September 2010 in “Southern Medical Journal” This review discusses low-level light therapy for androgenetic alopecia and female pattern hair loss, noting minimal clinical evidence on its efficacy and the need for more controlled studies.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
11 citations
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February 1989 in “Journal of veterinary medicine. Series A” This study observed that congenital hypotrichosis in crossbred cattle is linked to short, curly, dilute-color hair, potentially due to color dilution mutants in European breeds.
May 2026 in “International Journal of Drug Delivery Technology” This source describes how androgenic alopecia, or pattern hair loss, affects about 70% of men and is linked to factors like stress, hormonal imbalances, and lifestyle issues, which can also impact psychological well-being and potentially contribute to severe health conditions such as heart disease.
17 citations
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January 2016 in “American Journal of Epidemiology” This study suggests that any baldness, particularly moderate balding, is associated with a higher risk of fatal prostate cancer in men, supporting a possible link between hair loss and prostate cancer mechanisms.
February 2025 in “Cureus” This case report describes a 37-year-old female with non-classical congenital adrenal hyperplasia who presented with severe acne, progressive hair loss, and primary infertility, managed with prednisolone.
May 2025 in “Indian Dermatology Online Journal” This case report highlighted two atypical childhood alopecia cases: congenital atrichia without papules and Bjornstad syndrome with alopecia areata; emphasizing diagnostic challenges, notably the absence of keratotic papules usually associated with congenital atrichia and the presence of alopecia areata in Bjornstad syndrome.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.
148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
January 2023 in “Indian Dermatology Online Journal” This case report identifies a 23-year-old man with congenital triangular alopecia, a non-scarring alopecia characterized by preserved follicles and vellus hair, for which unnecessary interventions should be avoided.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
This study found that 20% of children initially diagnosed with premature pubarche were later identified with different clinical conditions during follow-up, highlighting the need for careful differential diagnosis over time.
July 2012 in “International Journal of Trichology” This article discusses various aspects of hair and scalp health, ancient philosophical perspectives on hair, and causes of hair disorders in children, without reporting new clinical results.
10 citations
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November 2024 in “Diagnostics” This review discusses the role of elevated androgens in the skin-related symptoms of polycystic ovary syndrome, such as acne and hirsutism, and provides insights into the mechanisms behind these manifestations to inform effective treatment strategies.
March 2024 in “Indian Journal of Dermatology/Indian journal of dermatology” In this article, the authors compile various dermatological conditions that metaphorically reference animal-related visuals, such as "buffalo hump" in HIV-associated lipodystrophy or "leonine facies" in lepromatous leprosy, to enhance learning through mnemonic and visual associations.
The case showed the need for quick investigation of virilization in women and how emotional health is linked to physical health.
October 2025 in “World Journal of Biology Pharmacy and Health Sciences” This review highlights the role of sex hormones in skin health, observing that hormonal changes throughout a woman's life can affect skin conditions such as acne and hair loss, with treatments involving hormonal therapies and the importance of a multidisciplinary approach.
186 citations
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December 2012 in “Current opinion in cell biology” This review discusses the recent advancements in understanding how keratins influence cytoarchitecture, cell dynamics, and disease processes but reports no new clinical results; the authors highlight its roles in development and diseases like cancer.
87 citations
,
September 2012 in “Journal of Cell Science” This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.
6 citations
,
October 2005 in “Indian Journal of Dermatology” The document discusses male and female pattern hair loss, its diagnosis methods, FDA-approved treatments like finasteride and minoxidil, their side effects, and the role of lifestyle changes.
1 citations
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July 2021 in “IntechOpen eBooks” This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.