research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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870-900 / 1000+ resultsresearch Optic Neuropathy in a Child with Alopecia
A 4-year-old boy's vision and hair loss were likely caused by inflammation.
research Lash Ptosis Caused by Latanoprost
Latanoprost can cause eyelash drooping as a side effect.
research Topical prostaglandin f2α analog induced poliosis
Using topical prostaglandin F2α for glaucoma may cause loss of eyelash or eyebrow pigment.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion
A rare skin condition caused droopy and outward-turning eyelids in a patient.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Intraoperative floppy iris syndrome
Certain eye surgery complications can be managed effectively, especially in patients who have used specific prostate medications.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Penilaian Teknis dan Ekonomi Unit Penangkapan Jaring Cumi di PPP Bajomulyo Pati, Jawa Tengah.
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research Factors predisposing to intraoperative floppy-iris syndrome: An up-to-date meta-analysis
Certain medications and conditions increase the risk of intraoperative floppy-iris syndrome.
research An Approach to the Patient with Hirsutism
The document concludes with guidance for doctors on diagnosing and treating hirsutism effectively and safely.
research Reply
Dr. Rasmussen disagrees with Alexander and Schor, emphasizing uncertainty in genital wart transmission and advocating for discussions on potential abuse and referrals in such cases.
research Management of Intraocular Foreign Bodies
Prompt treatment of intraocular foreign bodies is crucial to prevent blindness and improve outcomes.
research Trichilemmal cyst of the eyelid: An unusual presentation in paediatric age group
Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.