research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
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research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
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 A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
research Pilomatricoma in the infraorbital region
Pilomatricoma is a rare, benign skin tumor that requires surgical removal for best results.
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
research Superficial angiomyxoma with trichofolliculoma
A rare benign tumor with hair follicle features was found on a man's trunk.
research Onychomatricoma in the Light of the Microanatomy of the Normal Nail Unit
Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
research Study of normal hair and of some malformations with a scanning electron microscope
Hair malformations may occur due to timing issues in hair development.
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 Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research ALOPECIA TEMPORÁRIA APÓS TRATAMENTO ENDOVASCULAR RELACIONADA A UMA MALFORMAÇÃO ARTERIOVENOSA EM FACE: RELATO DE CASO
Onyx® embolization effectively treats facial arteriovenous malformations with minimal complications.
research Satoyoshi Syndrome
Satoyoshi syndrome symptoms can improve with corticosteroids and surgery.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Cutaneous Tumours of Pilar Origin with Associated Syndromes
Some skin tumors from hair follicles and glands can be linked to genetic syndromes and may be benign or malignant.
research Becker’s Nevus in a Male: A Case Report
A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Maternal androgen excess inhibits fetal cardiomyocytes proliferation through RB-mediated cell cycle arrest and induces cardiac hypertrophy in adulthood
Excess maternal androgens can cause heart problems in offspring.
research Folliculosebaceous cystic hamartoma with hair shaft fragments.
A rare ear cyst contained hair fragments.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Modern endovascular and aesthetic surgery techniques to treat arteriovenous malformations of the scalp: case illustration
New techniques for treating scalp blood vessel malformations are effective and can have good cosmetic results.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.