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research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Trichofolliculoma With Mucinosis
A rare hair follicle tumor showed unusual high levels of mucin.
research Spontaneous Pathology of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Older Julia Creek dunnarts often have reproductive and hormonal health issues.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Dermoscopy of pilomatricoma: A case report with a review of the literature
Dermoscopy helps doctors recognize a type of benign skin tumor called pilomatricoma.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
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 Bubble hair
Bubble hair deformity may be caused by hair shaft trauma and can improve with gentle hair care.
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 Disorders linked to insufficient androgen action in male children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research An atypical case of trichofolliculoma: a contribution of the dermoscope
Dermoscopy is crucial for diagnosing rare scalp tumors like trichofolliculoma.
research A case of loose anagen hair syndrome associated with trichotillomania in a 14-year-old girl
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
research Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty
The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
research Loose anagen hair syndrome presenting as patchy hypotrichosis – clinico-trichoscopic correlation
Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
research Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research MON-024 Steroid Cell Tumor, Not Otherwise Specified; A Rare Case of Hyperandrogenism
A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Onychogryphosis by an elastic wire
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.