research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
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research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Breast Embryology, Anatomy, and Physiology
The document explains breast development, common breast conditions, and their treatments.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Pediatric Dermatoses Pattern at a Brazilian Reference Center
Inflammatory skin conditions are the most common in Brazilian children, with atopic dermatitis being the top issue.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Expression of EZH2 in the Skin of Developing Human Fetuses and Adults: A Comparative Study
EZH2 levels decrease as fetuses develop and are higher in adult skin, which may affect skin growth and repair.
research Hair In The Wrong Place: A Rare Case Of Pilonidal Sinus In The Preauricular Region
A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Collodion Baby Case Series: The Success of Oral Retinoic Acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Innovative Therapeutics in Pediatric Dermatology
New treatments for skin conditions in children include a preferred drug for birthmark reduction, proactive creams for eczema and vitiligo, a safe psoriasis medication, and special tissues and socks for eczema and fungal infections.
research Hot Topics in Pediatric Dermatology
Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Safety Assessment of Linum Usitatissimum (Linn.) Ingestion in New Zealand Rabbits
Prolonged linseed ingestion is safe for rabbits.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Regulation of Masculinization: Androgen Signaling for External Genitalia Development
Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
research Growth Hormone Deficiency with Late-Onset Hypothalamic Hypoadrenocorticism Associated with Respiratory and Renal Dysfunction: A Case Report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Flares of Systemic Lupus Erythematosus During Pregnancy and the Puerperium: Prevention, Diagnosis, and Management
Pregnancy can increase lupus activity, but careful planning and treatment can improve outcomes.
research Developmental Toxicity of Levo-Alpha-Acetylmethadol (LAAM) in Tolerant Rats
LAAM caused developmental toxicity in tolerant rats without causing birth defects.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Development of a Non-Parametric Population Pharmacokinetics Model and Bayesian Estimator for Tacrolimus in Tunisian Renal Transplant Patients
The model and estimator can predict drug exposure in kidney transplant patients well.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Comparison of Cutaneous Manifestations in Chronic Kidney Disease With or Without Dialysis
Most patients with chronic kidney disease have skin problems, which get worse as the disease progresses, and dialysis doesn't greatly reduce these issues.