research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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270-300 / 1000+ resultsresearch MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research E031 Retinal vasculitis with Libman-Sacks endocarditis as presenting features of a systemic lupus erythematosus with antiphospholipid antibody syndrome patient
A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
research Retinoids Modulate MITF: A Novel Mechanism in the Regulation of Melanogenesis - eScholarship
Retinoids can help treat skin pigmentation disorders by affecting melanin production.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research β-Catenin Inactivation Is a Pre-Requisite for Chick Retina Regeneration
Inactivating β-catenin is essential for chick retina regeneration.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Bilateral Eyelash Poliosis with Raccoon Erythema and Hypopigmentation-Contact Follicular Leukoderma
Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Fast clinical response with topical ruxolitinib in the management of non-segmental vitiligo detected by VISIA® analysis system
Topical ruxolitinib quickly improves non-segmental vitiligo.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Segmental Vitiligo
Segmental Vitiligo is a stable, early-onset form of vitiligo that responds well to early treatment and is ideal for repigmentation studies.
research Severe pityriasis rubra pilaris complicated with Kaposi's varicelliform eruption and cutaneous MRSA infection case report
Isotretinoin effectively improved severe pityriasis rubra pilaris with complications.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Lichen planus pigmentosus and its variants: review and update
Lichen planus pigmentosus causes dark skin patches and is treated by avoiding triggers and using anti-inflammatory medications.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
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 Repeated Low-Level Red-Light Therapy for Controlling Onset and Progression of Myopia-a Review
Red-light therapy may slow myopia progression better than traditional treatments.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research An ophthalmological and electroretinographic study of patients taking canthaxanthin and beta-carotene
Long-term use of canthaxanthin may cause reversible changes in the eye, including crystal deposits and altered vision responses.
research A rare repigmentation pattern in a vitiligo patient: a clue to an epidermal stem-cell reservoir of melanocytes?
Repigmentation in vitiligo may come from melanocyte stem cells in the skin.
research Vogt-Koyanagi-Harada Disease Diagnosed in a Black-Skinned Woman in Internal Medicine
A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Scarring Alopecia in Classic Adult Type I Pityriasis Rubra Pilaris
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.