research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
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210-240 / 1000+ resultsresearch Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Steroid induced central serous retinopathy following follicular unit extraction in androgenic alopecia
Steroid use can cause a rare eye condition called central serous retinopathy, which can lead to permanent vision damage.
research Minoxidil and bilateral central serous chorioretinopathy in an adolescent girl: relationship or causality?
Minoxidil might cause eye issues, so early detection is important.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Protein-Losing Enteropathy, Anasarca and Dermatological Manifestations on People of Advanced Age: Don't Overlook the Diagnostic Hypothesis of a Cronkhite Canada Syndrome
Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Twenty-Nail Dystrophy of Alopecia Areata
"20-nail dystrophy" can have multiple causes.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.