research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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240-270 / 1000+ resultsresearch Glabellar pomade crust mimicking dyskeratosis follicularis
The woman's forehead lesion was caused by ointment use and resolved with treatment.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria
A patient with congenital erythropoietic porphyria showed eye issues due to porphyrin buildup.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research Kerion Celsi: a clinical epidemiological study
Early diagnosis and effective treatment of kerion Celsi prevent scarring and permanent hair loss.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Wnt7a can up-regulates cell adhesion related protein fibronectin expression and promotes cell proliferation in corneal epithelial cells
Wnt7a helps corneal cells grow and stick together, aiding in repair.
research The Potential Reversible Transition between Stem Cells and Transient-Amplifying Cells: The Limbal Epithelial Stem Cell Perspective
Corneal cells can potentially revert to stem cells, aiding in repair and regeneration.
research Oculoplastic Surgery Atlas. Eyelid Disorders: . Eds Geoffrey J Gladstone, Evan H Black, Shoib Myint, Brian G Brazzo. Pp 130; pound66.50. Heidelberg: Springer-Verlag, 2001. ISBN 0-387-95316-7.
Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a viable alternative.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Discrimination of Dysplastic Nevi from Common Melanocytic Nevi by Cellular and Molecular Criteria
Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Cutaneous scedosporiosis
A fungal skin infection was successfully treated with medication and compression therapy.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research Sebaceous lipids are essential for water repulsion, protection against UVB-induced apoptosis, and ocular integrity in mice
Sebaceous lipids are crucial for keeping skin and eyes healthy in mice.
research Demodex
Following a specific clinical sequence can help diagnose and treat Demodex mites in the eyes.
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.
research Newer approaches to dry eye therapy: Nanotechnology, regenerative medicine, and tissue engineering
New treatments using advanced technology aim to improve dry eye disease care.