research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
Search
for
Sort by
Research
570-600 / 1000+ resultsresearch An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Vertex Accentuation in Female Pattern Hair Loss
Vertex accentuation is a common pattern in female hair loss.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
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 Você conhece esta síndrome? * Do you know this syndrome? *
Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
research Polycystic Ovary Syndrome: Clinical Presentation, Diagnostic Challenges, and Evolving Management Approaches
Early detection and comprehensive care improve long-term health in PCOS.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Virilizing ovarian steroid cell tumor in a 40 year old South Indian female: a case report
A woman's masculine symptoms were caused by an ovarian tumor, which improved after surgery.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
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 Understanding Polycystic Ovary Syndrome: A Comprehensive Guide
PCOS is a common hormonal disorder in women that causes various symptoms and health risks, requiring personalized treatment.
research Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants.
research Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin
Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
research Spontaneous improvement of Cronkhite-Canada syndrome in a postpartum female
A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research A cross-sectional, observational study of the clinico-epidemiological profile of female pattern hair loss in Western India and its association with metabolic syndrome
Female pattern hair loss in Western India is common and often linked to metabolic syndrome.
research COLOCOLIZATION OF VITILIGO AND ALOPECIA AREATA
Vitiligo and alopecia areata may share common causes.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research A Case of Ovarian Hyperthecosis in a Postmenopausal Woman
A postmenopausal woman's excess male hormone symptoms improved after her ovaries were removed.
research The Ziering Whorl Classification of Scalp Hair
Craig Ziering created a system to classify scalp hair patterns, important for improving hair restoration surgery results.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research Eruptive Vellus Hair Cysts
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research TSPO activation modulates the effects of high pressure in a rat ex vivo glaucoma model
Activating TSPO helps protect the retina from damage caused by high eye pressure in glaucoma.