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.
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research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Telitacicept for systemic lupus erythematosus with post‑surgical papillary thyroid carcinoma: A case report
Telitacicept helped stabilize complement levels in a patient with lupus and thyroid cancer.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT
No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research ERYTHROMELANOSIS FOLLICULARIS FACIEI ET COLLI
Three Iranian men had reddish-brown facial pigmentation with no effective treatment.
research Post-finasteride syndrome: newly recognised condition
Post-finasteride syndrome causes various symptoms in men using finasteride, with no known cure.
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 Pemphigus Foliaceus in a 26-year-old Hackney Pony
The pony's skin condition improved significantly with prednisolone treatment.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Co-existence of Systemic Lupus Erythematosus and Celiac Disease: A Case Report
An 18-year-old girl improved with treatment after being diagnosed with both Systemic Lupus Erythematosus and Celiac Disease.
research Hepatitis Lupus in Systemic Lupus Erythematosus in Male Patients
Lupus hepatitis can affect male SLE patients and is treatable with specific medications.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Lichen Planus Pigmentosus as a Cutaneous Extrahepatic Manifestation of Chronic Hepatitis C Virus Infection: A Case Report
Lichen planus pigmentosus may indicate undetected hepatitis C infection.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Acquired loss of hair pigment associated with a flexural dermatosis
research Alopecia syphilitica diffusa
Treatment with benzylpenicillin and prednisolone cured the patient's syphilis and hair loss.
research Persistent pemphigus vulgaris and pemphigus foliaceus showing features of tufted hair folliculitis just on the scalp
A rare scalp condition with hair loss was correctly diagnosed and treated, leading to hair regrowth.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research LP-206 ANA-negative lupus presenting with segmental hyalinizing vasculitis and valvular heart disease – a rare case report
Early recognition and aggressive treatment can significantly improve rare ANA-negative lupus with heart and skin issues.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Multiple Eruptive Dermatofibromas in a Patient With Systemic Lupus Erythematosus Treated With Methylprednisolone
A woman with lupus developed rare skin growths that went away on their own.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Acquired uncombable hair
A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.