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.
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research Dental Management in a 7-Year-Old Child with Ichthyosis Vulgaris: A Rare Case Report
Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
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 A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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 Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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.
research Prioritization of Therapy Uncertainties in Congenital Ichthyosis: Results from a Priority Setting Partnership
The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Acquired Ichthyosis, Alopecia, and Loss of Hair Pigment Associated with Leiomyosarcoma
A woman's skin and hair conditions improved after her cancerous tumor was removed.
research Harlequin Ichthyosis
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up
A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
research Case of Epidermolytic Ichthyosis with a Novel L157P Mutation in KRT10 Complicated by Hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Surgical Approach of Ectropion in Lamellar Ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Acquired Ichthyosis, Alopecia, and Loss of Hair Pigment Associated with Leiomyosarcoma
Removing a tumor may resolve associated skin and hair symptoms.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.