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This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.

This review summarizes existing and new cases of generalized pustular psoriasis and acute generalized exanthematous pustulosis associated with COVID-19, noting that over half lacked a known drug trigger.

This study used artificial neural networks to predict hair loss by analyzing factors like gender and zinc deficiency, suggesting neural networks may effectively model hair loss prediction.

This narrative review found a strong association between alopecia areata and autoimmune thyroid diseases, suggesting routine thyroid function and autoantibody screening could be beneficial for certain patients with extensive, recurrent, or early-onset alopecia areata.

In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.

In this case report, an 18-year-old Vietnamese female with primary amenorrhea and normal female phenotype was most likely diagnosed with müllerian agenesis, highlighting its association with embryologic underdevelopment of the müllerian duct.

This review focuses on the clinical presentation and management challenges of menopausal acne and reports no new experimental findings.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.

This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.

This case report discusses a patient with VHL-associated paraganglioma, highlighting the importance of genetic testing and monitoring in those with VHL disease, due to high mutation penetrance and associated risks.

This case study confirmed a diagnosis of Werner syndrome in a 27-year-old woman through genetic testing, highlighting the condition's characteristics and the importance of multidisciplinary management.

This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.

In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.

This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.

This review examines recent breast cancer memoirs and photographic narratives, highlighting how they address topics like environmental carcinogens and genetic testing while reshaping traditional testimonial and memorial narratives.

This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

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 report of a 16-month-old girl with acrodermatitis enteropathica, who showed atypical symptoms and normal zinc serum levels, highlights how genetic testing and zinc supplementation led to marked improvement in her condition, underscoring the importance of accurate diagnosis in metabolic disorders.

This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.

This study reports a unique case of trichotillomania as a presenting sign in a patient with neurological Wilson's disease, confirmed by genetic testing and copper abnormalities.

This study highlights the importance of recognizing non-nutritional forms of rickets, which can manifest with subtle symptoms like alopecia and cataracts, and emphasizes that a comprehensive diagnostic approach, including genetic testing, can improve management and treatment outcomes.

This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.

In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.

This report describes a case study of a 23-year-old female exhibiting multiple trichodiscomas, a type of benign tumor of the hair follicular discs common in familial cases and potentially linked to Birt-Hogg-Dube syndrome, though genetic testing was not performed due to financial constraints.