research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
Search
for
Sort by
Research
510-540 / 1000+ resultsresearch A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Linear and Annular Lupus Panniculitis of the Scalp with Annular Lupus Panniculitis of the Face in a Child
A 4-year-old girl with a rare lupus condition was successfully treated with oral corticosteroids, leading to full recovery and hair regrowth.
research Porokeratotic adnexal ostial naevus: review on the entity and therapeutic approach
Laser treatments are the most effective for porokeratotic adnexal ostial nevus.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Graham Little-Lassueur Syndrome with Hypertrophic Lichen Planus in a Patient with Chronic Hepatitis C
A woman with chronic hepatitis C had a rare skin condition linked to her illness.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Folliculocentric papules and alopecia
A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
research Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report.
Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Angiokeratomas Scroti Associated with Angiokeratomas of the Eyelids: Coincidence or One Entity? A Case Report and Review of the Literature
The report suggests that the same underlying issue in blood vessel support may cause angiokeratomas on both the scrotum and eyelids.
research Pediatric Sjögren’s Syndrome: Focus on Ocular Involvement and Diagnostic Challenges
Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Ichthyosis, atopic dermatitis, and alopecia
research Ichthyosis fetalis in a cross‐bred lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research COLOCALIZATION OF ALOPECIA AREATA AND LICHEN PLANUS
Alopecia areata and lichen planus can occur together in children, which is important for diagnosis and treatment.
research 42146 Concurrent improvement in scalp hair and eyebrow or eyelash regrowth in patients with severe alopecia areata treated with baricitinib
Baricitinib treatment can help regrow scalp hair and eyebrows or eyelashes in people with severe alopecia areata.
research Nevus lipomatosus cutaneous superficialis with folliculosebaceous cystic hamartoma
A rare skin growth was successfully removed without recurrence after one year.
research BH11 Cutis verticis gyrata associated with chronic traction
Tight hairstyles can cause a rare scalp condition with thick skin folds.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research Laser ablation of abnormal skin pigmentation post syndactyly release
Laser treatment can fix skin color issues after syndactyly surgery.
research Epidermolysis Bullosa in Calves in the United Kingdom
Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
research Linear Cutaneous Lupus Erythematosus Following Blaschko’s Lines on the Scalp: Additional Cases and Review of the Literature
Linear cutaneous lupus erythematosus on the scalp is rare, often affects young Asians, and can be treated with specific medications.
research Sjögren's Syndrome in Scurvy
Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.
research Long-Term Evaluation of Endoscopic and Pretrichial Open Forehead Lifts: A Morphometric Analysis
Both endoscopic and pretrichial open forehead lifts effectively elevate eyebrows long-term with high patient satisfaction.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.