research Ichthyosis fetalis in a cross‐bred lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
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120-150 / 1000+ results research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research 25-Year-Old Woman With New-Onset Seizures
A woman's new seizures were caused by a brain tumor likely linked to her past cancer treatment, and choosing safe seizure medications is important for women who can have children.
research DENOUEMENT—CONTINUED FROM P. 661
Tinea faciei should be considered in neonatal vesicular lesions and confirmed with KOH examination and culture.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research ALOPECIA TEMPORÁRIA APÓS TRATAMENTO ENDOVASCULAR RELACIONADA A UMA MALFORMAÇÃO ARTERIOVENOSA EM FACE: RELATO DE CASO
Onyx® embolization effectively treats facial arteriovenous malformations with minimal complications.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Recipient site scalp necrosis: A rare postoperative complication of hair transplantation
Timely treatment and prevention are crucial to avoid serious complications in hair transplants.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research 21 Adipose stem cell exosome (ASCE): next generation regenerative aesthetics & therapeutics for scalp & hair
Adipose stem cell-derived exosomes may improve hair count and scalp health, potentially outperforming current treatments like minoxidil.
research An Algorithm for Reconstruction of Electrical Injuries of the Scalp
Thorough cleaning of the skull is key for successful scalp injury reconstruction.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Temporal lobe epilepsy exacerbation during pharmacological inhibition of endogenous neurosteroid synthesis
Stopping finasteride improved seizure control, suggesting neurosteroids affect seizures and treatment.
research Tinea Capitis Caused by Microsporum ferrugineum in an Infant during the First Year of Life
Griseofulvin effectively treats tinea capitis in infants.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
research Alopecia neoplastica caused by desmoplastic melanoma
A rare skin cancer caused hair loss and spread, needing multiple treatments.
research Effects of Fetal Exposure to Diazoxide in Man
Fetal exposure to diazoxide can cause hair loss and abnormal hair growth in infants.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research [Visual field defect in a patient given sodium valporate then carbamazepine: possible effect of aminotransferase inhibition].
Anti-epileptic drugs may cause visual and hair side effects due to enzyme inhibition, especially in genetically predisposed individuals.
research Frontoplastia: opção para reconstrução de defeitos na fronte
Forehead reduction surgery can fix forehead defects and improve appearance.
research Scalp whorls
Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Topiramate-Induced Hair Loss: Case Report
Topiramate may cause reversible hair loss.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.