research Short anagen hair syndrome is caused by mutations in the WNT10A gene and has a genetic overlap with male pattern hair loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
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660-690 / 1000+ results research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Janus Kinase Inhibitors against Other Biological Treatments in Alopecia Areata
Janus kinase inhibitors show promise in treating alopecia areata but need more safety research.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research HAIR BANDS IN FACIO‐GENITO‐POPLITEAL SYNDROME
Hair bands are a new symptom of facio-genito-popliteal syndrome.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.