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In this case report, a 3-year-old male with IFAP syndrome showed moderate improvement in skin symptoms and corneal erosions but no change in alopecia or photophobia after 6 months of acitretin therapy.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.

In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.

This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.

This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.

This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.

This study identified a novel gene, hacl-1, that is specifically expressed in the hair follicles of ICR mouse skin and is associated with their active state.

This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.

This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.

This study found that oxidative treatment with peracetic acid dissociates some disulfide bonds in human hair fibers while maintaining the crystalline structure, suggesting different mechanisms stabilize different regions of intermediate filaments.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.

This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.

In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.

This case study reports on a mother and daughter with ichthyosis follicularis, alopecia, and photophobia, noting consistent keratotic eruptions during the mother's pregnancies that improved postpartum.

This study investigated the effect of peracetic acid treatment on hair fiber structure and found that disulfide bond oxidation altered thermal properties while preserving the α-crystal structure, suggesting different stabilizing interactions in hair fibers.

This study found that keratin fibers like human hair undergo thermal and mechanical transitions that can help assess changes from cosmetic processes such as bleaching and perm-waving.

This study found that, compared to oxidative treatments, reductive perm-waving more severely impacts the intermediate filaments in European human hair, while both treatments alter denaturation kinetics in a first-order manner.

This article discusses themes in the molecular structure of hair and reports no new research findings.

This review discusses the management of androgenic disorders in women, highlighting that treatment is generally more effective than recognized, though improvement may take weeks or months to appear.

This article reviews the genetic and protein interactions involved in hair growth, highlighting regulatory sequences, expression patterns, and potential genetic modifications, but presents no new experimental findings.

This study found that the S100A3 gene is exclusively expressed in hair follicle cells differentiating into hair shaft components in mice, suggesting its important role in hair formation.

In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.