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Confetti cure: reversing the genetic kaleidoscope of ichthyosis.
Br J Dermatol
August 2024
Institute of Human Genetics, Medical Center, University of Freiburg, Germany.
Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin.
Br J Dermatol
August 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Article Synopsis
- There is currently no effective treatment for epidermolytic ichthyosis (EI), a condition caused by genetic mutations in keratin genes (KRT1 or KRT10), leading to skin abnormalities.
- Patients with ichthyosis with confetti (IWC) exhibit some areas of normal skin due to genetic changes that occur in the affected tissues.
- A clinical trial was conducted to evaluate the use of cultured epidermal autografts (CEAs) derived from revertant skin cells, which showed varying success in preventing recurrence of ichthyosis lesions after transplantation, with 100% of patients experiencing some level of improvement four weeks post-transplant.
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Pediatr Investig
September 2023
Department of Dermatology, Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Article Synopsis
- Keratinopathic ichthyosis (KPI) is a genetic skin disorder caused by mutations in certain genes, and its symptoms can vary widely among individuals.
- * A study involved 13 Chinese children with KPI, where DNA sequencing was used to identify specific gene mutations and their relation to clinical symptoms.
- * The findings revealed that different types of mutations corresponded to distinct skin features, and suggested that oral acitretin may be a potential treatment for severe cases.
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Australas J Dermatol
November 2023
Pediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Hypomelanosis of Ito.
Indian J Pediatr
November 2022
Child Development Clinic, Sir Ganga Ram Hospital, New Delhi, 110060, India.
Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by presence of hypopigmented skin lesions arranged in whorls and streaks following the lines of Blaschko and are often accompanied by abnormalities of the central nervous system, skeletal system, eyes and teeth. Additional symptoms include deafness, hemihypertrophy, cardiac abnormalities, renal malformations, and abnormalities of the genitourinary tract.
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