research Follicular ichthyosis
This study describes a distinctive form of ichthyosis characterized by abnormal epidermal differentiation mainly within hair follicles in four patients with congenital follicular hyperkeratosis.
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30 / 1000+ resultsresearch Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
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.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
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.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
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.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
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.
research Ichthyosis Follicularis With Alopecia and Photophobia
This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
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.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
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.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
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.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
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.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
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.
research Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
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.
research Inherited ichthyosis: Syndromic forms
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.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Ichthyosis fetalis in a cross‐bred lamb
This case report describes a presumptive case of ichthyosis fetalis in a cross-bred lamb and highlights the need for this rare condition in sheep to be considered by veterinarians in the differential diagnosis of dermatopathies.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
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.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
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.
research Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
This study demonstrated that biochemical analysis of proteins from fetal skin biopsies is feasible, potentially enhancing prenatal diagnostic capabilities for protein-related disorders.
research Skin diseases in the alpaca (Vicugna pacos): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006)
This retrospective study documented various skin diseases in alpacas, reporting bacterial infections as the most common, along with other conditions described for the first time.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
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.
research Congenital and Hereditary Skin Diseases
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
research Disorders of Keratinization
This chapter reviews various skin disorders classified as Mendelian disorders of cornification and reports no new clinical findings, highlighting the complexity of genetics involved in inherited ichthyoses.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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.
research Letter from Brisbane [Letters to editor]
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.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
research Manifest hair repigmentation associated with etretinate therapy
This letter to the editor discusses an observed case of hair repigmentation linked with etretinate therapy but reports no new research findings.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.