research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
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research Polycystic Ovarian Syndrome: The Androgenized Adolescent
The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Coexistent frontal fibrosing alopecia with ophiasis pattern alopecia areata in a young female: A case report and review of the literature
Recognizing rare hair loss patterns in young females can improve understanding and treatment.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Prevalence of androgenic alopecia (AGA) in patients with polycystic ovarian syndrome (PCOS) and characterization of associated clinical and biochemical features
Hair loss is common in women with PCOS and is linked to symptoms like acne and excess hair but not to worse metabolic health.
research Fibrothecoma of Ovary with Virilizing Features
A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
research Virilizing adrenocortical oncocytoma in a toddler
A toddler with a rare adrenal gland tumor causing male-like physical changes was successfully treated with surgery.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
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 Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Diagnosing polycystic ovary syndrome
PCOS is diagnosed when at least two of these three features are present: polycystic ovaries, irregular ovulation, and high androgen levels.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Androgenic alopecia and its association with metabolic syndrome
Early hair loss may signal a risk for metabolic syndrome and related health issues.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.