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This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.

A specific gene mutation causes woolly hair and hair loss.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

This study found that loose anagen hair syndrome is a common form of alopecia in young girls, typically presenting with thin, sparse hair and usually confirmed by a hair-pull test.

This study suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.

This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This study suggests that cancer risk may be influenced by the balance of pro- and anti-oncogenic mutants in normal tissues rather than by the total number of mutations.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.

This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.

This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.

This case report describes a 4-year-old boy with autism and a rare condition causing precocious puberty, where treatment for hyperandrogenism unexpectedly intensified his aggressive behavior.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

This case report highlights that scarring alopecia with features of dystrophic epidermolysis bullosa and lichen planopilaris can occur in patients with a COL7A1 mutation, emphasizing the need to recognize concurrent inflammatory causes.

This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.

This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.

This review discusses the growing use of scalp hair for elemental analysis in various fields and highlights advancements in analysis techniques, including the future potential of laser ablation ICP-MS, but reports no new clinical results.

This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.