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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 study reports the first instance of localized acquired hypertrichosis in a pediatric patient following splint application after forearm surgery, with hair growth returning to normal within eight months.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study reported an unusual case of nail matrix involvement and trachyonychia in a child with juvenile pityriasis rubra pilaris, showing significant improvement with topical therapy and oral biotin.

In this case report, researchers described an exceptionally rare occurrence of a 19-year-old female having three concurrent pilonidal sinuses at intermammary, umbilical, and sacrococcygeal locations, with surgical and conservative treatment leading to favorable healing outcomes.

In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.

This case report highlights the rare occurrence of overlapping syndromes including SLE, RA, and AAV in a patient with discoid lupus erythematosus, noting the persistent role of prior viral infection remains unclear.

This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.

This case study presents a 9-month-old male infant with symptoms suggesting a likely diagnosis of Hay–Wells syndrome, including severe scalp crusting, nail abnormalities, and partial syndactyly.

This study found that brothers of women with PCOS exhibit elevated DHEAS levels, indicating a potential familial genetic trait, but did not show increased rates of premature balding.

This study describes a case of generalized trichorrhexis nodosa and finds that defects in alpha-keratin chain formation and low cystine levels in hair may contribute to the condition.

This report presents the first known case of a proliferating hybrid cyst containing both epidermoid and trichilemmal components on the scrotum of a 44-year-old man.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.

This case report describes a 16-year-old girl with severe generalized gingival fibromatosis and hypertrichosis, who underwent successful treatment through gingivectomy, with uneventful healing observed over an eight-month follow-up.

In this study, among 58 girls diagnosed with isosexual precocious puberty, 5.2% had family histories of sexual precocity, indicating familial patterns may be more common than previously thought.

This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.

This case report highlights the diagnostic and management challenges of polycystic ovary syndrome, especially in young women with metabolic complications like type 2 diabetes.

This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.

This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.

This article analyzes the potential for insights from monogenic disorders to inform the understanding and treatment of common polygenic diseases, though complete predictability based on genotype remains unrealistic.

This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.

This case report describes a patient with Clouston syndrome who developed squamous cell carcinoma, highlighting the need for regular follow-up in patients with chronic paronychia that do not respond to conventional treatments.

This study observed a higher prevalence of PCOS among adolescent girls with pilonidal disease and suggested that treating PCOS may reduce the need for PD intervention.

This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.

Pili annulati is caused by a protein metabolism disorder affecting hair structure.

This case series highlights that nail clipping can aid in early detection and surgical planning of onychomatrical tumors by distinguishing between benign and potentially malignant growths based on the cavities' average dimensions.

In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.

This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.