research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
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research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
research A Success Story of Cerebral Arteriovenous Malformation (AVM) Treated with Stereotactic Radiosurgery (SRS) in Bangladesh
Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research Two siblings with vitamin-D-dependent rickets type II: No recurrence of rickets for 14 years after cessation of therapy
Two siblings stayed rickets-free for 14 years after stopping treatment.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Successful Treatment of Cutaneous Rosai–Dorfman Disease With Pulsed Dye Laser
Pulsed Dye Laser effectively treats skin lesions in Rosai–Dorfman Disease.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Research on Expression of Retinoid-related Orphan Receptor (ROR) in the Skin of Cashmere Goat
RORs may influence cashmere growth cycles.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Administration of dutasteride in animal models of retinitis pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research Experimental model of radiodermatitis in rabbits
A 30 Gy radiation dose effectively causes severe radiodermatitis in rabbits.
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 PLGA–Soya Lecithin Based Hybrid Nanocomposite for Targeted Topical Delivery of Resveratrol in Psoriasis Management
The new gel effectively treats psoriasis with minimal side effects.
research Prediction of Long-term Scalp Hair Regrowth at 24 Months in Patients with Alopecia Areata Receiving Ritlecitinib Treatment in the ALLEGRO Clinical Trial Program
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization
The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
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.
research A phase 2a study investigating the effects of ritlecitinib on brainstem auditory evoked potentials and intraepidermal nerve fiber histology in adults with alopecia areata
Ritlecitinib is safe and may effectively treat alopecia areata.
research Using patient preference to inform ritlecitinib dose selection for alopecia areata treatment
Patients prefer the higher 50 mg dose of ritlecitinib for better hair regrowth despite higher risks.
research 724 - A phase 2b, randomized, double-blinded, parallel-group, placebo-controlled study to evaluate the efficacy and safety of rezpegaldesleukin in adults with severe to very-severe alopecia areata
Rezpegaldesleukin shows promise for treating severe alopecia areata.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Estimating the risk of irreversible post-SSRI sexual dysfunction (PSSD) due to serotonergic antidepressants
Serotonergic antidepressants can significantly increase the risk of erectile dysfunction and have a small risk of causing irreversible sexual dysfunction.
research Rabbit syndrome because of topical minoxidil foam
Using too much minoxidil foam can cause a rare movement disorder with facial twitching, but symptoms go away when the correct dose is used.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.