research 8800 A Case of Hypopituitarism Due to Sheehan Syndrome
Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
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870-900 / 1000+ results research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Thiopurine-induced Myelosuppression with Severe Sepsis in a Patient with Crohn's Disease: A Case Report
Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Autoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies
Autoimmune thyroid disease raises the risk of many health issues but lowers the risk of lung cancer and allergic rhinitis.
research Clinical and Trichoscopic Characteristics in a Case of Congenital Triangular Alopecia
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report
Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
research Central centrifugal cicatricial alopecia: a subtype of lichen planopilaris in African descent?
CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
research Reporting on Adverse Clinical Events
Different medications can cause serious side effects in some people.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Skin signs in the diagnosis of thallium poisoning
Thallium poisoning can cause severe neurological symptoms and hair loss.
research Long-term symptom profiles after COVID-19vsother acute respiratory infections: a population-based observational study (COVIDENCE UK)
COVID-19 causes more taste, smell, hair, memory, and concentration issues than other respiratory infections.
research Clinical factors and hair care practices influencing outcomes in Central Centrifugal Cicatricial Alopecia
Certain health conditions and hair care habits affect the treatment results for a scalp condition called Central Centrifugal Cicatricial Alopecia.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population
The rs1128977 gene variant may affect cholesterol and body measurements.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
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 A Case Report on Idiopathic-Multi-centric Castleman’s Disease Associated POEMS- Syndrome
Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.
research The HAIR-AN syndrome : a case report
Treatment improved symptoms in a woman with HAIR-AN syndrome.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome
The document concludes that HAIR-AN syndrome should be considered when a patient shows severe hyperandrogenism and insulin resistance after excluding tumors.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Central centrifugal cicatricial alopecia: Past, present, and future
CCCA is a hair loss type affecting African women, possibly caused by grooming and chemicals, with various treatments and needing more research.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.