research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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750-780 / 1000+ resultsresearch Niche work when you can get it: collagen XVII and the melanocyte stem cell
Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Unmasking pseudopelade of Brocq in male adult: a rare case report
Early diagnosis of pseudopelade of Brocq in men is crucial to prevent permanent hair loss.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Research on intraoperative iris behavior in rabbits treated with tamsulosin and finasteride.
Finasteride may increase iris billowing risk during surgery, similar to tamsulosin.
research Hypertrichosis induced by latanoprost
Latanoprost, a glaucoma medication, caused excessive eyelid hair growth in many patients.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research May AMH levels distinguish LOCAH from PCOS among hirsute women?
AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research Immunohistochemical dissection of cystic panfolliculoma focusing on the expression of multiple hair follicle lineage markers with an insight into the pathogenesis
Cystic panfolliculoma resembles hair follicle tumors due to specific cell interactions.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Clinical, Dermoscopic and In-Vivo Reflectance Confocal Microscopy Evaluation of a Case of Graham Little-Piccardi-Lassueur Syndrome Successfully Treated with Narrowband-UVB Phototherapy
Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
research Pili Trianguli et Canaliculi Is a Defect of Inner Root Sheath Keratinization
The hair defect is due to abnormal inner root sheath keratinization.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Imaging sonographic findings of in a case of proliferating trichilemmal tumor of a finger: A case report
A rare finger tumor was imaged, showing a unique pattern not seen before.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Epidermoid Cyst with Foreign Body Granuloma Formation in Hip: A Case Misdiagnosed by Ultrasound
Epidermoid cysts can be better diagnosed with ultrasound by recognizing specific features and using clinical information.
research Overview of Polycystic Ovary Syndrome (PCOS)
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Cutaneous xanthomas in homozygous familial hypercholesterolemia: A 12-year follow-up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
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 LBMON232 A Hairy Situation: Ovarian Sex Cord Stromal Tumor As A Rare Cause Of Hyperandrogenism
A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Human retinal secretome: A cross-link between mesenchymal and retinal cells
The secretome helps protect and regenerate retinal cells by enabling communication between stem cells and retinal cells.
research Secondary Amenorrhea and Clinical Hyperandrogenism in a 34-Year-Old Female: Polycystic Ovary Syndrome or Not?
A 34-year-old female initially suspected of having polycystic ovary syndrome (PCOS) due to secondary amenorrhea and hirsutism was later diagnosed with an androgen-secreting juvenile granulosa cell tumor (JGCT). Despite initial PCOS treatment, her symptoms worsened, leading to further tests that revealed elevated testosterone and anti-Müllerian hormone (AMH) levels and a 12 cm adnexal mass. Surgical removal of the mass confirmed the JGCT diagnosis, resulting in significant improvement in hyperandrogenism and the resumption of regular menstrual cycles. This case underscores the need to consider androgen-secreting tumors in patients with significant hyperandrogenism and elevated AMH, even when PCOS is initially suspected.