research Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus
Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
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630-660 / 1000+ resultsresearch Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Myxedema Coma and Acute Hepatopathy in a Dog with Severe Atherosclerosis
The dog died from myxedema coma linked to severe atherosclerosis and thyroid issues.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research Monilethrix: a typical case report with microscopic and dermatoscopic findings
A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Moth eaten alopecia as a manifestation of group of skin diseases: Reporting a series of 100 cases
Moth-eaten alopecia is linked to various skin diseases and requires early treatment to prevent worsening.
research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Systemic lupus erythematosus in a filly.
SLE should be considered in horses with immune-related skin issues.
research Immunohistochemical Expression of Keratins in Normal Ovine Skin and in Chronic Dermatitis due to Sarcoptes scabiei
Sheep with chronic Sarcoptes scabiei dermatitis have altered keratin expression in their skin.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research The effect of DNMTs and MBPs on hypomethylation in systemic lupus erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Dermatologic Disorders
Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
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 Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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.