research Rare steroid cell tumor found in region North Brazil: case report
A rare ovarian tumor was diagnosed in a woman from North Brazil, and surgery is the preferred treatment.
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research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research A Case of Topical Ruxolitinib Treatment Failure in Alopecia Areata
Topical ruxolitinib failed to regrow hair in a 66-year-old with alopecia areata.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
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 Alopecia Triangular Temporal. Revisión de las manifestaciones clínicas y Dermatoscópicas.
Alopecia triangular temporal is a rare condition with unclear causes and treatment, but trichoscopy helps in diagnosis.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
research RORA Regulates Autophagy in Hair Follicle Stem Cells by Upregulating the Expression Level of the Sqstm1 Gene
RORA boosts autophagy in hair follicle stem cells, potentially aiding hair growth.
research A rare adverse event following laser hair reduction
Laser hair reduction can sometimes cause a rare skin condition called Fox-Fordyce disease.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Intermittent Low-dose Ritlecitinib in Refractory Paediatric Alopecia Areata: A Case Report with Therapeutic Implications
Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
research Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research DERMATOLOGIC INVESTIGATION OF ALOPECIA IN RHESUS MACAQUES (MACACA MULATTA)
Most hair loss in captive rhesus macaques is likely due to environmental and behavioral factors.
research Triple-Negative Sjogren’s Syndrome and Recurrent Pneumothorax: An Uncommon Presentation of Autoimmune Disease
Recurrent pneumothorax can occur in Sjogren's syndrome, even without common markers.
research RETALHO SURAL EM ILHA: ANATOMIA, ULTRASSONOGRAFIA E RECONSTRUÇÃO DE FERIDA COMPLEXA EM MEMBRO INFERIOR
research An unusual case report of rapunzel syndrome trichobezoar in a 3-year-old boy
A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
research Fatal Rapunzel Syndrome
A child died from eating hair, causing severe stomach blockages and infection.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.