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780-810 / 1000+ resultsresearch Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research The iron content of human hair. II. Individuals with disturbed iron metabolism.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research CASE REPORT: SCABIES WITH NORMOCYTIC NORMOCHROMIC ANEMIA AND ABNORMALITIES IN THE HAIR MEDULLA IN DOMESTIC CATS
The cat recovered from scabies and anemia with the treatment.
research A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2
Growth hormone therapy can improve symptoms and growth in children with Vitamin-D Dependent Rickets Type-2.
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 Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Perifolliculitis Capitis Abscedens et Suffodiens in an 18-Year-Old Aboriginal Canadian Patient: Case Report and Review of the Literature
The article concludes that careful examination is crucial for the timely diagnosis and treatment of a rare scalp condition in an Aboriginal Canadian teenager.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Is Satoyoshi syndrome an autoimmune disease? A systematic review
Satoyoshi syndrome is likely an autoimmune disease.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research SIRT1 downregulation provokes immune-inflammatory responses in hair follicle outer root sheath cells and may contribute to development of alopecia areata
Reduced SIRT1 in hair cells may cause alopecia areata by triggering immune responses.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
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 Abnormal epigenetic modifications in peripheral blood mononuclear cells from patients with alopecia areata
Epigenetic changes in blood cells may contribute to alopecia areata.