research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
Search
for
Sort by
Research
900-930 / 1000+ results research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research Ischemic onycholysis of the hands
A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Alopecia areata and adverse pregnancy outcomes: A systematic review and meta-analysis
Alopecia areata may slightly increase the risk of some pregnancy complications.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Rumpel-Leede Phenomenon Associated with Pneumatic Compression: A Case Report
Pneumatic compression can cause skin bruising even in healthy individuals.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research Bone infarcts in a woman with systemic lupus erythematosus and antiphospholipid antibody syndrome
A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient
A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
research Case of alopecia areata accompanied by polymyalgia rheumatica
Alopecia areata and polymyalgia rheumatica may be linked autoimmune conditions.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Epidermolysis Bullosa Acquisita Occuring In A Patient With Systemic Lupus Erythematosus
A woman with lupus also developed a severe skin condition linked to a genetic factor.
research Neuroactive steroids induce changes in fetal sheep behavior during normoxic and asphyxic states
Neurosteroids help protect fetal brains from asphyxia damage.
research Intraoperative Floppy Iris Syndrome: Updated Perspectives
Identifying and managing risk factors before cataract surgery is crucial to prevent complications.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.