research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
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480-510 / 1000+ resultsresearch Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Clinical and demographic characteristics of frontal fibrosing alopecia in a dermatology referral center in Bogota, Colombia: a descriptive cross-sectional study
Frontal fibrosing alopecia in Bogotá mainly affects postmenopausal women, with possible links to hormonal changes and sunscreen use.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Hair and Nail Disorders in Children with FST 5
Children with darker skin can have various hair and nail issues.
research A Cross-sectional Study of Rosacea and Risk Factors in Women with Frontal Fibrosing Alopecia
Women with severe frontal fibrosing alopecia are more likely to have rosacea.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
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 Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Examination of Clinical and Demographic Characteristics of 14 Cases with Frontal Fibrosing Alopecia
Early diagnosis and treatment can prevent or delay frontal fibrosing alopecia progression in postmenopausal women.
research Frontal Fibrosing Alopecia: Role of Dermoscopy in Differential Diagnosis
Dermoscopy helps diagnose frontal fibrosing alopecia by distinguishing it from other hair loss conditions.
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 Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Frontal fibrosierende Alopezie – Fallbeispiele und Review
Frontal Fibrosing Alopecia is a type of hair loss that mainly affects postmenopausal women, has unclear causes, and lacks evidence-based treatments.
research Frontal fibrosing alopecia among men: A clinicopathologic study of 7 cases
Men with Frontal fibrosing alopecia typically lose hair on the front scalp and sometimes on sideburns and upper lip, with treatments showing varied success.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Frontal Fibrosing Alopecia
Frontal Fibrosing Alopecia is a type of hair loss affecting mostly older women, with no agreed best treatment.
research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research 861 Frontal fibrosing alopecia (FFA) under dynamic optical coherence tomography (D-OCT)
D-OCT shows increased blood vessel growth in response to tissue damage in Frontal Fibrosing Alopecia and is useful for diagnosis and monitoring.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Reassessing frontal fibrosing alopecia
Frontal Fibrosing Alopecia is a slowly progressing hair loss condition, likely underdiagnosed, with ineffective treatments, needing more research to understand it fully.