research AB023. An atypical clinical presentation of alopecia in two patients with systemic lupus erythematosus
Two patients with lupus had an unusual type of hair loss not typical for the disease.
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870-900 / 1000+ results research Nevus comedonicus with lesional growth of terminal hair: An unusual case
Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
research Alopecia areata - probing the deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
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 Finasteride for Chronic Central Serous Chorioretinopathy
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research The Color Blindness Disorders and the Role of Sex-Linked Genes
No link between finger length ratios and color blindness was found.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
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 Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Beyond Coincidence in Neurofibromatosis Type 1: Becker Nevus Adjacent to Plexiform Neurofibroma with Brachial Plexus Involvement and Integrated Mechanistic Illustration
A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Neonatal lupus syndrome in a Nigerian child
A Nigerian baby with neonatal lupus got better with treatment by 6 months.
research SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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.
research Fundus changes in systemic lupus erythematosus
Regular eye exams are important for detecting serious complications in lupus patients.
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 Central centrifugal cicatricial alopecia amalgamated with alopecia areata: immunologic findings
The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.