research A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
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690-720 / 1000+ resultsresearch Gastric Trichobezoar in a 2‐Year‐Old Girl With Severe Malnutrition and Social Risk: A Case Report
Gastric trichobezoar in young children requires surgery and comprehensive care to prevent serious complications.
research 666 Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in follicular dystrophy and primary cicatricial alopecia
Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
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 Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Mogamulizumab‐induced alopecia. Multicentric case series: Clinical, trichoscopic and histological characterization
Mogamulizumab can cause hair loss, often linked to a better treatment response.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Manganese Content in Hair of Patients with Parkinson’s Disease: Manganese Deficiency and Susceptibility Towards Parkinson’s Disease
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Epidermolysis bullosa in calves in the United Kingdom
Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
research An Unusual Case of Mycosis Fungoides Presenting with Multiple Atypical Morphologies in a Photoexacerbated Distribution
Mycosis fungoides can have unusual symptoms and may be misdiagnosed, but specific cell markers might suggest a lower risk of worsening.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Multisystemic eosinophilic epitheliotropic disease in a horse in Brazil
A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.