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This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

In this study, a somatic KRAS mutation was identified in a Korean infant with nevus sebaceus and associated extracutaneous manifestations, suggesting a diagnosis of nevus sebaceus syndrome.

This review discusses strategies for identifying and characterizing adult stem cells in mice and highlights their potential and limitations, but reports no new experimental results.

This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.

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 novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.

This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.

This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.

This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.

This review discusses strategies for developing semi-solid topical generic products to match the quality of reference-listed drugs, using concepts like quality by design and reverse-engineering, but reports no new results.

This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.

This review discusses the potential of using human hair proteomics for non-invasive diagnostic and forensic applications but reports no new results; the authors highlight areas needing further research.

This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.

This study found that using trait prevalence-informed priors may improve the prediction accuracy of appearance traits in Bayesian models, but their application is limited by sparse knowledge on trait prevalence.

This article discusses themes in the molecular structure of hair and reports no new research findings.

Human enzymes can detoxify harmful substances but might also increase their cancer risk.

This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.

This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.

This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.

This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

The book is a comprehensive and current guide on hair disorders, with minor flaws.