research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
Search
for
Sort by
Research
150-180 / 1000+ results 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 Steroid induced central serous retinopathy following follicular unit extraction in androgenic alopecia
Steroid use can cause a rare eye condition called central serous retinopathy, which can lead to permanent vision damage.
research Organoids and organ chips in ophthalmology
Organoids and organ chips can improve eye disease research and treatment.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research The status of the oral drugs for chronic central serous chorioretinopathy
More research is needed to confirm the long-term effects of oral drugs for chronic central serous chorioretinopathy.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.
research Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique
The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.
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 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 Intraoperative floppy iris syndrome
Certain eye surgery complications can be managed effectively, especially in patients who have used specific prostate medications.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Acute central serous chorioretinopathy following topical minoxidil use for androgenic alopecia - A case report
Minoxidil may cause vision problems.
research ALOPECIA AREATA
Alopecia areata's causes are unclear, treatments exist but relapses are common.
research An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Periorbital Pilomatrixoma
Pilomatrixoma is a rare, harmless tumor near the eyebrow in kids, best treated with surgery.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
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 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Evaluation of changes in meibomian glands in polycystic ovary syndrome by noncontact infrared meibography
People with polycystic ovary syndrome have worse meibomian gland and ocular surface conditions.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
research Segmental cherry angiomas associated with extragenital lichen sclerosus: A report of two cases
Two patients had a rare combination of red skin spots and white scaly skin lesions not on the genitals.