research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
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research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
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 NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research ILDS Newsletter No. 29
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
research Dermpath Quiz: Which alopecia does the patient have?
The patient has frontal fibrosing alopecia (FFA).
research Successful Treatment of Cutaneous Rosai–Dorfman Disease With Pulsed Dye Laser
Pulsed Dye Laser effectively treats skin lesions in Rosai–Dorfman Disease.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Issue Information
"Dermatologic Therapy" offers expert treatment info for various skin diseases.
research Dissecting Cellulitis of the Scalp Associated With Dupilumab: A Paradoxical Neutrophilic Reaction
Dupilumab can cause unexpected scalp issues, so early symptom recognition is important to avoid hair loss.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Discoid lupus alopecia complicated by frontal fibrosing alopecia on a background of androgenetic alopecia
Woman has discoid lupus, frontal fibrosing, and androgenetic alopecia.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study
Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research PREVALENSI 5 KELAINAN KULIT TERBANYAK POLIKLINIK DERMATOLOGI KOSMETIK RS USU TAHUN 2020 - 2022
Acne vulgaris was the most common skin disorder overall.
research The effects of melatonin treatment on wool production and hair follicle cycle in angora rabbits
Melatonin treatment increases wool production and improves fiber quality in angora rabbits.
research Toxicity of the pharmaceuticals finasteride and melengestrol acetate to benthic invertebrates
Finasteride harms invertebrates' survival and burial ability.
research Biodiversity and Microorganisms Variation of Endemic Duku (Lancium domesticum Corr.) Rhizosphere in the Wet and Dry Main Growing Site in Jambi, Indonesia
Microbial communities in Duku plant roots vary between wet and dry habitats, affecting plant health.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.