December 2022 in “The journal of pediatrics/The Journal of pediatrics” This case report describes a diagnosis of cutaneous pilus migrans in a 19-month-old girl, highlighting its rarity and distinction from larva migrans, and confirming it through microscopic examination.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
6 citations
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February 2013 in “Veterinary Dermatology” This case report describes the first documented occurrence of pili torti in a healthy young adult cat, marked by noninflammatory and nonpruritic symmetrical multifocal alopecia.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” This study found that hairless dog breeds have adapted to maintain normal body and core temperatures through structural changes like a thicker epidermis and the role of melanin in thermoregulation, with genetic mechanisms involving the FOXI3 gene governing hairlessness.
30 citations
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May 1980 in “Journal of the American Academy of Dermatology” In this study, three patients with alopecia areata exhibited spotty absence of the whiteness of their nail lunulae, potentially due to defects in the matrical epithelium.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
13 citations
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December 2006 in “Journal of experimental animal science” This study found that injecting interferon gamma into C3H/HeJ mice did not alter the frequency or onset of alopecia areata, suggesting the protein alone does not trigger the disease.
75 citations
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September 1985 in “Archives of dermatology” This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
This study found that innate lymphoid cells-type 1 (ILC1lc) can induce alopecia areata (AA) by disrupting hair follicle immune privilege and causing hair follicle dystrophy and regression in both ex vivo and in vivo settings.
40 citations
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July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
86 citations
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June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
February 2017 in “International Journal of Research in Dermatology” This report describes a case of alopecia areata incognita in a 6-year-old child, marked by sudden diffuse hair loss without bald patches, typically observed in adults.
July 2026 in “The Journal of Immunology” This study in a murine model of alopecia areata found that IFNg is crucial while perforin is not necessary for CD8 T cell-mediated disease development.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.
This study found that ILC1-like cells can induce alopecia areata symptoms in both ex vivo human hair follicles and in vivo mouse models, challenging the view that alopecia areata is solely CD8+ T cell-driven.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
January 2008 in “Medical Entomology and Zoology” 42 citations
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January 2014 in “BMC Genomics” This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.
1 citations
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October 2023 in “Biology” In this study, researchers observed that fasting-induced molting in laying hens led to increased thyroid hormones, which may regulate feather molting by affecting hair follicle growth through specific signaling pathways, highlighting molecular changes during induced molting.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
50 citations
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February 2013 in “BMC evolutionary biology” This study found that the Hr gene loss and positive selection for the FGF5 gene in cetaceans likely contributed to hair loss as these animals adapted to aquatic environments.
September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
33 citations
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September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
19 citations
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August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
134 citations
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September 2008 in “Lasers in surgery and medicine” This study found that low fluence photoepilation with intense pulsed light targets the pigmented area of hair follicles, causing temporary hair loss by inducing a catagen-like state without severe follicle damage.
54 citations
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October 2007 in “The FASEB Journal” This study suggests that hairlessness in nude mice may be due to insufficient expression of phospholipase C-δ1, a molecule essential for normal hair development downstream of the Foxn1 gene.