research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
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330-360 / 1000+ results research Heterozygous COL5A1 deletion in a cat with classical
research Ciliary Madarosis Secondary to Intra-Arterial Chemotherapy for Retinoblastoma Treatment
Eyelash loss can temporarily occur from chemotherapy for retinoblastoma.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Porokeratotic Eccrine Ostial and Dermal Duct Nevus: A Report of Rare Late-Onset Solitary Lesion
A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
research Neonatal Occipito-Lınear and Temporo-Fronto-Parıetal Alopecıa: Can Non-Marginal and Marginal forms of the Transient Neonatal Hair Loss be Found Together?
A baby boy had two types of temporary hair loss at birth, which might be two forms of newborn hair loss combined.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Pilomatricoma in the Infraorbital Region
Pilomatricoma is a rare, harmless skin lump that needs accurate diagnosis and timely treatment.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Optic Neuropathy in a Child with Alopecia
A 4-year-old boy's vision and hair loss were likely caused by inflammation.
research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research “Solitary fibrofolliculoma of the eyelid
A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Transient bullous dermolysis of the newborn
The newborn's skin blisters healed without scarring, leaving some light spots, and stopped forming after four months.
research Transient Bullous Dermolysis of the Newborn
The newborn's skin condition improved over time, leaving only lighter skin patches.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Late onset nevus comedonicus of scalp: a rare site for an uncommon condition
A rare skin condition appeared on a 19-year-old woman's scalp.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Trichoscopy of aplasia cutis congenita of the scalp in skin of color
Trichoscopy is effective for diagnosing scalp ACC in darker skin tones.
research Line‐field confocal optical coherence tomography in alopecia areata and histopathological correlation
LC-OCT is a useful noninvasive tool for diagnosing and monitoring alopecia areata.
research Recurrent Central Serous Retinopathy with Permanent Visual Loss in a U.S. Naval Fighter Pilot
A U.S. Naval fighter pilot suffered permanent vision loss in one eye due to recurrent central serous retinopathy.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Alopecia areata: Line‐field confocal optical coherence tomography features and dermoscopy correlation
LC-OCT is a promising tool for diagnosing and monitoring Alopecia areata.
research Optical Coherence Tomography Angiography Findings in Polycystic Ovary Syndrome
Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
research The Sacred Heart Bilobed Flap
The Sacred Heart Bilobed Flap is a surgical method for repairing small scalp defects with local flaps, relying on scalp elasticity and hair regrowth to hide any imperfections.
research Society News
Smoking doubles the risk of blindness, and physical exercise helps dyslexic children read better.