research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
Search
for
Sort by
Research
540-570 / 1000+ resultsresearch Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
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 Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
research Culinary Clues: Unraveling Dermatological Signs through Kitchen Analogies
Kitchen analogies help make skin conditions easier to understand and remember.
research Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
BMP5 is essential for ear cartilage cell growth in rodents.
research Non‐endocrine alopecia
The document concludes that non-endocrine alopecia in pets varies in treatment effectiveness and often has a poor prognosis, especially in cats.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Historical Archives
The document reviews key historical figures and discoveries in dermatology.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Topical Finasteride Therapy in Hirsutism
Topical finasteride may help treat facial hirsutism in women.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
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 Hormone therapy for transgender patients
Hormone therapy is essential for transgender individuals but requires careful management due to possible metabolic effects.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Expression of Sex-Determining Genes in the Scalp of Men with Androgenetic Alopecia
Sex-determining genes may affect male baldness.
research Endocrine disorders and hormonal therapy for adolescent acne
Hormonal therapies are safe and effective for treating acne in female adolescents, with specific treatments for those with endocrine disorders.
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 Glossary
research The Skin and Subcutaneous Tissues
The document concludes that skin and nail changes can indicate various underlying health conditions.
research Surgical Anatomy of the Scalp
Understanding the scalp's five-layer structure is crucial for better surgical outcomes and fewer complications.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research The First Visit: Consult and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research Skin biopsy
Correct skin biopsy techniques are crucial to avoid misdiagnosis of skin diseases.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.