research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
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120-150 / 1000+ results research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Molecular mechanisms of asymmetric divisions in mammary stem cells
Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
research Morbihan disease and extrafacial lupus miliaris disseminatus faceie: a case report
A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses
Certain types of mucopolysaccharidoses cause significant hair abnormalities.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Hirsutism
research MAD2B acts as a negative regulatory partner of TCF4 on proliferation in human dermal papilla cells
MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
research Distinctive histopathologic findings in linear morphea (en coup de sabre) alopecia
The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Cardiac Outflow tract septation defects in a DiGeorge syndrome model respond to Minoxidil treatment.
Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
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 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 Coexistence of dermatomyositis and alopecia areata: Insight into pathogenesis
DM and AA may share a common cause.
research Pericardial, pleural effusion and anasarca: A rare complication of low-dose oral minoxidil for hair loss
A woman developed swelling in her body after taking low-dose oral minoxidil for hair loss, but it resolved after stopping the medication.
research Androgenetic Alopecia and Metabolic Syndrome: Is Alarin a Missing Link?
Higher alarin levels might link hair loss and metabolic syndrome.
research Spontaneous Pathology of Endangered Geriatric Julia Creek Dunnarts (<em>Sminthopsis douglasi</em>, Archer 1979) with Emphasis in Reproductive Pathology
Older Julia Creek dunnarts often have reproductive and hormonal health issues.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.