research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
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research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
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 Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Diagnostic challenge: Loose anagen hair syndrome
The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
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 Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Das Cushing-Syndrom im Spiegel der Haut
Skin symptoms like fragile skin and easy bruising can indicate Cushing's syndrome, which requires early diagnosis and treatment to prevent serious health issues.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Associations between type 1 diabetes and autoimmune skin diseases: Mendelian randomization analysis
Type 1 diabetes may cause certain autoimmune diseases in Europeans.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Loose Anagen Hair Syndrome in a Saudi Girl
A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.