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This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.

This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

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.

In a case study of vitamin D-dependent rickets type 2A, researchers observed that while active vitamin D treatment failed to improve bone and laboratory abnormalities, oral calcium lactate significantly ameliorated these issues, although skin and hair problems remained unresponsive.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.

This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.

Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.

This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.

In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.

This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.

This study identified a single autosomal recessive gene responsible for hypotrichosis in a mutant rabbit strain, affecting hair growth and causing epidermal and hair follicle abnormalities.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This study found that intradermal injection of specific oligonucleotides altered hair growth and morphology in mice by inducing a dominant mutation in the K17 gene.

Mutations in the DSG4 gene cause specific hair and scalp issues.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.

This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.

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.

In this study, ob/ob mice were found to have a prolonged telogen hair cycle phase from 10 to 24 weeks, suggesting their potential as a model for studying telogen effluvium.

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.