research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
Search
for
Sort by
Research
630-660 / 1000+ results research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
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 Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Case Report: Baricitinib improved alopecia areata in a pediatric patient with atopic dermatitis
Baricitinib significantly improved hair regrowth and skin condition in a 14-year-old with alopecia areata and atopic dermatitis.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
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 Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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 Case report: Sequential therapy with dupilumab and baricitinib for severe alopecia areata with atopic dermatitis in children
Sequential therapy with dupilumab and baricitinib improved hair regrowth and atopic dermatitis in a child without adverse reactions.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research CASE OF EARLY PUBERTAL DEVELOPMENT IN A 3-YEAR-OLD GIRL: CONSIDERING RARE PERIPHERAL CAUSES
A rare ovarian tumor caused early puberty in a 3-year-old girl.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Short Anagen Syndrome
Short anagen syndrome causes short hair that may grow longer after puberty.
research 42146 Concurrent improvement in scalp hair and eyebrow or eyelash regrowth in patients with severe alopecia areata treated with baricitinib
Baricitinib treatment can help regrow scalp hair and eyebrows or eyelashes in people with severe alopecia areata.
research Short anagen syndrome: Case series and literature review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Psoriasis Course in Patients with Alopecia Areata Undergoing Baricitinib Therapy
Baricitinib improves alopecia areata and may help psoriasis but might not be ideal for psoriatic arthritis.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.