research Care of the Newborn with Ichthyosis
Newborns with ichthyosis need specific care based on their skin type.
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research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin
Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
research Ichthyosis Follicularis with Alopecia and Photophobia in a Mother and Daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Nutritional Status and Gastrointestinal Structure and Function in Children With Ichthyosis and Growth Failure
Children with severe ichthyosis and growth failure rarely have nutritional deficiencies or gastrointestinal issues, but may experience chronic dehydration.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Clearance of Ichthyosis Linearis Circumflexa with Balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research Ichthyosis Linearis Circumflexa in a Child: Response to Narrowband UVB Therapy
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Ichthyosis Hystrix: A Rare Case in a Three-Day-Old Male Infant
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Ichthyosis Follicularis with Alopecia and Photophobia (IFAP): Late Diagnosis in 18-Year-Old Man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Ichthyosis Fetalis in a Cross-Bred Lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Ichthyosis Vulgaris Involving the Scalp Area Affected by Androgenetic Alopecia
research Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Connexin 26 (GJB2) Mutations in Keratitis–Ichthyosis–Deafness Syndrome Presenting with Squamous Cell Carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.