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This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.

This study found that scanning electron microscopy revealed considerable abnormalities in hair morphology in MPS I, II, IIIA, and IIIB patients, potentially related to heparan sulfate accumulation.

This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.

This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.

This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.

This case study describes a 54-year-old woman with a rare pattern of asymmetrical hair loss resembling androgenetic alopecia, alongside sparse body hair and near absence of eyebrows and eyelashes, while other ectodermal features were normal.

In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.

This case report describes a 50-year-old Kashmiri woman with plica polonica, detailing trichoscopic findings of entangled hair with crisscrossing shafts and concretions.

This study found that the weak tensile strength of pili torti hair may result from loose keratin intermediate filaments due to abnormalities in disulfide bonds.

This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.

This study found that 13% of women who underwent ultrasound imaging showed suggestive signs of polycystic ovaries, but ultrasound findings alone are insufficient to diagnose polycystic ovary syndrome.

Trauma can cause fat inflammation and abnormal hair growth.

This study found that in a sample of girls and adolescents aged 15–24 years, the prevalence of PCOS was 22.5% according to the Rotterdam criteria.

This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.

This report describes a 3.5-year-old girl with argininosuccinicaciduria, highlighting congenital trichorrhexis nodosa as a notable feature associated with the disorder.

This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.

This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.

PCOS is a common inherited condition causing cysts, irregular periods, and increased diabetes risk in women.

This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.

This study found evidence suggesting a potential genetic link between polycystic ovaries and premature male pattern baldness through screening of first-degree relatives of women with polycystic ovary syndrome.

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

This case report highlights an 11-year-old girl with dermatopathia pigmentosa reticularis, identifying associated Salzmann's nodular degeneration of the cornea and emphasizing the need for a multidisciplinary management approach.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This case report describes a 15-year-old Japanese girl with juvenile hypothyroidism who developed hypertrichosis and hyperkeratosis due to a keratin plug inhibiting hair growth on her back and arms.

In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.

This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.

This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.