research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
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840-870 / 1000+ results 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 LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Linear Lichen Planopilaris of the Trunk: First Report of a Case
Linear lichen planopilaris can affect the trunk, not just the face.
research Lipedematous alopecia, an entity on the rise
A 59-year-old woman was diagnosed with a rare hair loss condition called lipedematous alopecia.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research BH26 First reported case of lichen planopilaris in siblings: evidence for a genetic link?
Lichen planopilaris may have a genetic link.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Frontal fibrosing alopecia and genital Lichen sclerosus: Single‐center experience
Frontal fibrosing alopecia may be linked to genital Lichen sclerosus through an autoimmune process.
research Lichen planus pigmentosus (LPP) and lichen planus pigmentosus: 35 cases in Armenia, Colombia
Lichen planus pigmentosus and fibrosing frontal alopecia in Colombia are likely different stages of the same disease.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.