research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
Search
for
Sort by
Research
810-840 / 1000+ resultsresearch Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Reversible Facial Hyperpigmentation Associated With Vitamin B12 Deficiency
Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Graham-Little-Piccardi-Lassueur Syndrome: Two Case Reports and Review of the Literature
The document concludes that treatment improved skin lesions but not scalp hair loss in two patients with Graham-Little-Piccardi-Lassueur syndrome.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Multi-dermatomal unilateral nevus comedonicus along the lines of Blaschko: a rare presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
research 1369 Blue light stimulatory effect on hair growth mediated by opsin and cryptochrome photoreceptors
Blue light can help hair grow by affecting certain receptors in hair follicles.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Pohl-Pinkus constrictions of hair following chemotherapy for Hodgkin's disease
Chemotherapy caused the patient's hair to have alternating thick and thin segments.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Eyebrow alopecia: centrofacial trichoblastomatosis
Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
research Premature greying of hair in children: A comprehensive review for pediatricians and primary care physicians
Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
research Premature greying of hair in children: A comprehensive review for pediatricians and primary care physicians
Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
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 Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Epidermolysis bullosa in animals: a review
Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.