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240-270 / 1000+ resultsresearch Ulerythema Ophryogenes With Multiple Congenital Anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Use of Dermoscopy in the Diagnosis of Temporal Triangular Alopecia
Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
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 A Case of Acquired Trichorrhexis Nodosa After Applying New Hair Spray
New hair spray caused a hair shaft disorder.
research Primary Essential Cutis Verticis Gyrata: A Case Report With a Review of Literature
Primary essential CVG is a rare, benign scalp condition with treatment focusing on symptom management and hygiene.
research Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Temporal Triangular Alopecia
A 23-year-old man has a benign, non-progressive hair loss patch that doesn't respond to treatment but can be cosmetically treated.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research A Case of Unilateral Congenital Triangular Alopecia
A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Spermidine/Spermine-N1-Acetyltransferase: A Key Metabolic Regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Genetic Hair and Nail Disorders
Recent progress has been made in understanding inherited hair and nail disorders.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
HLA-DRB5 and other genes may be linked to alopecia universalis.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Subcellular Localization of the Five Members of the Human Steroid 5α-Reductase Family
All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
research Sex Differences in Animal Models of Sodium Valproate-Induced Autism in Postnatal BALB/c Mice: Whole-Brain Histoarchitecture and 5-HT2A Receptor Biomarker Evidence
Male mice are more susceptible to autism-like changes from valproic acid than female mice.
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.