research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
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900-930 / 1000+ resultsresearch Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Nevus comedonicus with lesional growth of terminal hair: An unusual case
Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
research Sunitinib
A woman got male pattern baldness from touching her husband's testosterone gel.
research Loose Anagen Hair Syndrome in Black‐Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.
research Is early onset androgenic alopecia a marker of metabolic syndrome and carotid artery atherosclerosis in young Indian male patients?
Early balding in young Indian men may indicate a higher risk of metabolic syndrome and potential heart disease.
research Baldness and testicular cancer: the EPSAM case-control study
Bald men may have a lower risk of testicular cancer.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Androgenetic alopecia, metabolic syndrome, and insulin resistance: Is there any association? A case-control study
Hair loss linked to metabolic issues and insulin resistance; early assessment may reduce future health risks.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Impact of Medical Castration on Malignant Arrhythmias in Patients With Prostate Cancer
Medical castration in prostate cancer patients can increase the risk of serious heart rhythm problems, so it's important to monitor heart activity during treatment.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Female Progressive Scalp Hair Loss Associated with Ovarian Thecoma
A woman's hair loss was linked to a rare hormone-secreting ovarian tumor, treated with surgery and hair loss medication.
research Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling
Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.