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In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.

This report describes a patient with symptoms suggestive of both loose anagen hair syndrome and uncombable hair syndrome, adding to previous instances of overlapping features between these conditions.

Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.

This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.

In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

A specific gene mutation causes severe skin and nail issues and hair loss.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This case report describes a girl with familial adenomatous polyposis who exhibited heterosexual precocious puberty due to an adrenal tumor secreting cortisol and androgens; after her adrenalectomy, her hormone levels normalized and symptoms improved, illustrating the link between genetic syndromes and endocrine disorders.

This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.

This article reports a case of hair tourniquet syndrome in a child's toe, successfully treated surgically, and emphasizes the need for healthcare providers to be aware for early detection and treatment.

This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.

This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.

This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.

In this case report, a 20-year-old man with a birthmark was identified as having a supernumerary nipple, a developmental anomaly, using dermoscopy to distinguish it from other pigmented skin lesions such as melanocytic nevus or basal cell carcinoma.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.

This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This report presents a 6-year-old girl with Turner syndrome, suggesting a possible association between Turner syndrome, psoriasis, alopecia areata, and trachyonychia.

This case study reported on a 30-year-old male with autoimmune polyglandular syndrome type 2, highlighting rare co-occurrence with alopecia universalis and emphasizing the importance of recognizing non-endocrine symptoms for early diagnosis and management of autoimmune endocrinopathies.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

Only Deomyinae rodents can regenerate complex tissues.

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

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.