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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840-870 / 1000+ results research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Nephrogenic systemic fibrosis: Report of two cases
The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Afamin serum concentrations are associated with insulin resistance and metabolic syndrome in polycystic ovary syndrome
High afamin levels are linked to metabolic syndrome and may predict its development in women with insulin resistance.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research A Rare Case of Antinuclear Antibody-Negative Systemic Lupus Erythematosus Presenting With Generalized Lymphadenopathy as the Initial Manifestation
A 16-year-old girl with lupus symptoms improved with treatment despite negative ANA tests.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Ursolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS)
Ursolic acid from Ochrosia elliptica leaves may help manage PCOS symptoms.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Production of anemia in a pig which responded to purified liver extract.
Liver extract treatment improved anemia and hair growth in a pig.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research (PNM-35) Recurrent priapism in a sickle cell disease patient treated with gonadotropin-releasing hormone (GnRH) agonists drugs: a case report
GnRH agonists can help manage recurrent priapism in sickle cell patients, but long-term safety is unclear.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Re: The association of urolithiasis and androgenetic alopecia. Resorlu M, Sancak EB, Uysal F, Arslan M, Diri A, Adam G, Akbas A, Sariyildirim A, Gulpinar MT, Resorlu B. Ren Fail. 2015 Oct 13:1–5
Kidney stones and hair loss are significantly related in people under 60 years old.
research Androgenic Alopecia Is Associated With More Severe Lower Urinary Tract Symptoms Secondary to Benign Prostatic Hyperplasia
People with hair loss may have worse urinary symptoms due to an enlarged prostate.