research Autoimmune polyglandular syndrome type 4 – case report
Patients with one autoimmune disease should be checked for other autoimmune disorders.
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research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research Comorbidities in patients with androgenetic alopecia: cardiovascular risk factors and benign prostatic hyperplasia
People with early-onset hair loss (AGA) have a higher risk of heart disease, metabolic syndrome, and prostate enlargement.
research 53289 Clinical and metabolic characteristics of male patients with early-onset androgenetic alopecia: A possible predisposition to metabolic syndrome
Early-onset male baldness may increase the risk of metabolic syndrome.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Type 1 interferon signature and cytotoxic T lymphocyte activation targeted against sweat ducts in inflammatory acquired idiopathic generalized anhidrosis
Inflammation damages sweat ducts, causing sweat gland injury.
research A Detailed Investigation of Hirsutism in a Turkish Population: Idiopathic Hyperandrogenemia as a Perplexing Issue
The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
research Association of androgenetic alopecia with metabolic syndrome in men: a community-based survey
Balding men, especially young ones, may have higher risk of heart issues and diabetes; check cholesterol levels.
research Conditions simulating androgenetic alopecia
Different hair loss types need accurate diagnosis for proper treatment.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Early onset androgenic alopecia in males, a marker for metabolic syndrome? A case control study
Early hair loss in young men is linked to higher risk of metabolic syndrome.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Anti-Müllerian hormone confirms the novel classification of female functional androgenization including polycystic ovary syndrome
Anti-Müllerian hormone is a specific marker for ovarian issues in women with conditions like PCOS.
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 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 Clinical characteristics, subtype classification, and prognostic factors of ophiasis: A retrospective study of 150 patients with therapeutic implications
Ophiasis mainly affects females, lasts longer, and has lower regrowth rates, with a new classification system helping predict treatment response.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research A retrospective analysis of disease epidemiology, comorbidities, treatment patterns, and healthcare resource utilization of alopecia areata in the United Arab Emirates using claims database
Alopecia areata in Dubai mostly affects men, often involves autoimmune disorders, and has high healthcare costs, especially for psychological issues.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.