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This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

This case report describes a rare presentation of nevus comedonicus following the lines of Blaschko, treated with oral isotretinoin and other therapeutic measures, resulting in a reduction of episodic painful cystic lesions.

This case report describes a 3-year-old boy with atrichia with papular lesions, emphasizing that dermoscopy, showing the 'cluster of stars' appearance, facilitated diagnosis without needing a skin biopsy.

In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.

This case report highlights the rare co-occurrence of Pili Annulati and Trichorrhexis Nodosa in a Syrian woman, underlining the need for further research into their relationship and treatment.

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.

This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.

This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.

This case report details an unusual instance of multiple eruptive milia in an otherwise healthy 3-month-old baby, characterized by widespread distribution and believed to be idiopathic due to the absence of associated genodermatoses.

This case report details a functioning adrenocortical oncocytoma in a 3-year-old girl with hirsutism and virilization, highlighting its rarity in childhood and including a literature review without new clinical data.

This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.

This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.

In this study, the researchers reconstructed Abraham's family pedigree from the Bible's book of Genesis to explore potential medical or genetic explanations for reported cases of familial infertility, linking historical accounts with plausible scientific reasoning.

Ancestry affects skin healing, with non-Hispanic Black patients showing more healing-related fibroblasts than White patients.

People with androgenetic alopecia may have a higher genetic risk for cardiovascular diseases.

This study observed that male-to-female skin grafts were consistently rejected in mice due to sex-linked histocompatibility antigens, suggesting potential applications for distinguishing between X- and Y-chromosome-carrying sperm.

In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.

This study analyzed a familial case of androgenetic alopecia over five generations, finding that its inheritance pattern aligns with sex-influenced and delayed dominance and links life habits with severity.

This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.

This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.

This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

This case report describes a rare instance of double-lined frontoparietal scleroderma en coup de sabre and suggests a genetic basis involving postzygotic mosaicism.

In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.

Patients with multiple superficial venous thrombosis are at greater risk for serious complications like cancer and recurrent blood clots.

This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.

This study reported the first paleogenomic data from Korea, revealing genetic diversity in ancient Koreans from the Gimhae region, with evidence of admixture between northern-Chinese Iron Age populations and Japanese-Jomon-related ancestry.

This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.

This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.