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In this case report, topical application of fluocinolone acetonide acetate ointment increased hair length and thickness in three family members with congenital hypotrichosis.

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

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

A gene deletion in DSG4 causes sparse hair in some Pakistani families.

A specific gene mutation causes sparse, brittle hair in a family.

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.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

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 study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

This review found that Tolvaptan is the only drug shown to slow the progression of autosomal dominant polycystic kidney disease, but it does not affect mortality or kidney failure outcomes.

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

This correspondence addresses the diagnostic challenges in distinguishing between Marie-Unna Hereditary Hypotrichosis and Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair, reporting no new clinical findings.

In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

In this study, follicular unit extraction grafting using a patient's own scalp follicles showed promise in healing chronic ulcers in a woman with recessive dystrophic epidermolysis bullosa.

This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.

This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.