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This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

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 identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.

This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.

This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

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 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 study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.

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.

This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.

This review highlights advancements in skincare aimed at addressing the effects of aging and environmental factors, including new techniques to rejuvenate skin cells and reduce inflammation, though challenges like complex routines and costs limit widespread adoption.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.

The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.

This study reviewed the evidence on minoxidil's effectiveness for androgenetic alopecia, finding that 5% topical minoxidil is the most effective monotherapy for men, while 2% is similarly effective for women. Genetic markers can predict response, and new formulations like foam and gel improve tolerability.

This study found that a young male Maine Coon cat with a tortoiseshell coat, which typically indicates unusual sex chromosomes, was fertile, carrying both XX and XY cell lines. The researchers recommend genetic testing for tri-colored male cats before breeding decisions.

This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This case report highlighted a rare occurrence of both adrenocortical carcinoma and uric acid kidney stones in a 5-year-old boy, with hormonal levels and clinical symptoms returning to normal after treatment and no recurrence over four years, emphasizing comprehensive endocrine evaluations in pediatric ACC management.

This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.

A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

This case report highlights the significance of alopecia totalis and knuckle pad hyperpigmentation as early indicators of azathioprine-induced myelosuppression and pancytopenia.

This article reviews the current FDA-approved treatments for severe pediatric alopecia areata, including the use of Janus kinase inhibitors, but reports no new clinical findings.

This study updates guidelines for evaluating and managing male infertility, including revised testing recommendations for Y-chromosome microdeletions, use of pelvic MRI, and testicular sperm in nonazoospermic males.

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.

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.

This study identified specific genetic variations associated with polycystic ovarian syndrome in Karnataka, which may help improve diagnosis and treatment.