research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Different Patterns of Lichen Planus in Three Members of One Family
Lichen Planus in siblings may be influenced by genetics and environment.
research Graham‐Little‐Piccardi‐Lassueur Syndrome Mimicking Male Pattern Androgenetic Alopecia
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Frontal fibrosing alopecia and lichen planopilaris in HLA-identical mother and daughter
A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
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 Central Frontoparietal Band-Like Alopecia in a 40-Year-Old Woman
A woman's hair loss was correctly diagnosed as Lichen planopilaris after initial misdiagnosis, highlighting the usefulness of trichoscopy in diagnosing hair disorders.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Alopecic Patches on the Extremities of a Young Man
Lichen planopilaris can cause hair loss on limbs, not just the scalp.
research 592 Characterization of lichen planopilaris in men: A retrospective analysis
Lichen planopilaris in men often affects the scalp, eyebrows, arms, legs, and beard, with many having family members with hair loss.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Alopecia Induced by Poly-L-Lactic Acid Injection
PLLA injections can cause hair loss and skin issues.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Platelet-rich plasma as a novel treatment for lichen planopillaris
Platelet-rich plasma may successfully treat lichen planopillaris, as shown by one patient's symptom regression.
research Paroxysmal Nocturnal Hemoglobinuria in Systemic Lupus Erythematosus: A Rare Manifestation.
PNH can occur in patients with SLE, so doctors should be aware of this.
research Basaloid follicular hamartoma, total body hair loss and SLE
Aggressive SLE treatment helped hair regrowth and improved oral plaque, but scalp lesions stayed.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Lichen Planopilaris: The Alopecia We Cannot Overlook
Early diagnosis and treatment of Lichen Planopilaris are crucial to prevent permanent hair loss.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.