research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
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research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research 305 Overlaps between inflammatory dermatoses and ichthyoses: need for novel therapeutic approaches
Patients with ichthyosis often experience symptoms similar to psoriasis and atopic dermatitis, suggesting that targeted therapies could improve their condition.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research SCD1 Sustains Homeostasis of Bulge Niche via Maintaining Hemidesmosomes in Basal Keratinocytes
SCD1 is important for hair growth by keeping the connection in skin cells where hair stem cells live stable.
research PSS20 MEDIATION MODELING AND MEASUREMENT CHARACTERISTICS OF THE ITCH SEVERITY SCORE FROM A PHASE 2B TRIAL OF ORAL CP-690-550 IN PATIENTS WITH MODERATE TO-SEVERE PLAQUE PSORIASIS
CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
research Daclizumab
Daclizumab may cause psoriasis-like skin problems in multiple sclerosis patients.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Data from Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The treatment was ineffective in humans.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research LB1020 Scurvy: A forgotten illness?
Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Targeting the Hypoxic Microenvironment in Cutaneous Chronic Graft-Versus-Host Disease through PI3Kδ Inhibition
PI3Kδ inhibition may effectively treat cutaneous chronic graft-versus-host disease.
research Skin Lesions in a Daclizumab-treated Patient with Multiple Sclerosis
A patient with multiple sclerosis developed skin reactions after Daclizumab treatment, requiring more data on the drug's effects.
research S3886 Concurrent Management of Crohn's Ileitis and Alopecia Universalis With Upadacitinib
Upadacitinib improved both Crohn's ileitis and alopecia universalis in a patient.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
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 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Evaluation of the efficacy of intervention in the management of AD chronic disease based on the theory of “prevention of the recrudescence of disease”
The ginseng cicada decoction effectively reduces atopic dermatitis symptoms and improves quality of life safely.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Kerion Celsi due to Microsporum canis in an Adult Woman, Treated Successfully with Fosravuconazole
Fosravuconazole effectively treated a woman's scalp infection without side effects.
research SARCOPTES SCABIEI INFECTION ACCOMPANIED BY HYPOCHROMIC MICROCYTIC ANEMIA IN A DOMESTIC DOG
A dog named Boby recovered from a skin infection and anemia after treatment, highlighting the need for pet cleanliness.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.