research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
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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 Extrapulmonary Disorders Associated with Rhodococcus Equi Infection in Foals: 150 Cases (1987–2007)
Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
research The Melanocyte Photosensory System in Human Skin
Human skin's melanocytes respond to light by changing shape, producing pigments and hormones, which may affect sleep patterns.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Transforming Growth Factor-Beta in Stem Cells and Tissue Homeostasis
TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
research Safety of Dermatologic Medications in Pregnancy and Lactation
Some skin medications are safe during pregnancy and breastfeeding, but others can harm the baby and should be avoided.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Wnt Signaling in Skin Organogenesis
Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 The Clinical Spectrum of Parathyroid Disease
The document concludes that parathyroid diseases have a range of clinical features and outcomes, with some conditions being treatable and others having a high risk of mortality.
research Unilateral Straight Hair: A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Abstracts of 28th Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
research References
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research Dermatological Drugs and Cosmetics: Allergenic and Adverse Effects
Some cosmetics and dermatological drugs can cause allergic reactions and side effects, like skin irritation and systemic issues.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Vitamin D: More Than a Bona Fide Hormone
Vitamin D is important for bones, hair, blood pressure, and breast development.
research New and Consolidated Therapeutic Options for Pubertal Induction in Hypogonadism: In-Depth Review of the Literature
There are various effective hormone treatments for puberty induction in boys and girls with hypogonadism, and starting treatment early is important.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Becker Nevus Syndrome
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.