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In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.

This study presents the first detailed 3D models of the complete K1/K10 keratin dimer and identifies structural features and interactions that may inform understanding of keratin filament assembly.

This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.

This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.

This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.

This case study highlights the unique occurrence of Papillon-Lefévre syndrome in two siblings from a consanguineous family, emphasizing the potential role of genetic factors in the disease's development.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

This study found a significant association between AGDAC measurements and the presence of PCOS, suggesting it could be an effective clinical tool in diagnosing the condition and its phenotypes, especially when combined with AMH.

This case report describes a 6-year-old child with twenty nail dystrophy and alopecia areata of the scalp.

This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.

This case report describes a 23-year-old woman with a history of ambiguous genitalia and complex medical conditions, including a pelvic mass and hirsutism, observed from childhood to adulthood.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.

Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.

This case report describes a young male with trachyonychia with associated hypertrophic cutaneous lichen planus, reticular oral lichen planus, and nail lichen planus. The diagnosis was aided by dermoscopy and histopathology, highlighting the importance of accurate diagnosis for effective treatment and prognosis.

This study reports that a lower 2D:4D finger length ratio is significantly associated with higher disease activity and reduced spinal mobility in females with ankylosing spondylitis, but not in males.

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.

This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.

In this case report, a late preterm male infant presented with a pathogenic TP63 gene variant, consistent with Rapp-Hodgkin Syndrome, showing symptoms such as ichthyosiform erythroderma, cleft palate, and ankyloblepharon, highlighting the complex management and diagnostic challenges in such cases.

This correspondence addresses the diagnostic challenges in distinguishing between Marie-Unna Hereditary Hypotrichosis and Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair, reporting no new clinical findings.

This case report describes a 7-year-old girl diagnosed with multiple eccrine pilar angiomatous nevi, a rare variant of eccrine angiomatous hamartomas, characterized by slow growth and generally benign behavior.

In this study, a case of a 20-year-old woman revealed ectopic acanthosis nigricans at a post-syndactyly-release surgical site, suggesting this rare condition could result from epidermal–dermal mismatch and altered growth factor signaling in grafted skin, without indicating any metabolic or malignancy concerns.

This case report describes a 52-year-old woman with multiple autoimmune conditions suggesting a diagnosis of PAS IIIC, characterized by prominent skin-related symptoms.

This case report discusses hair-tourniquet syndrome in infants, emphasizing the importance of early diagnosis and treatment to prevent serious complications.