research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
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600-630 / 1000+ results research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research General adverse response to cyclophosphamide in Chinese patients with systemic autoimmune diseases in recent decade — a single-center retrospective study
Cyclophosphamide often causes gastrointestinal issues, hair loss, and low blood cell counts in Chinese patients with autoimmune diseases.
research Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome
Vaccines work well in Netherton syndrome patients, similar to healthy people.
research 315 Butyrophilin-like 2 (BTNL2) controls auto-aggressive dermal γδT lymphocytes that attack human hair follicles.
BTNL2 helps protect hair follicles from immune attacks.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Distinct use of super-enhancer elements controls cell type–specific CD25 transcription and function
Super-enhancers control CD25 expression in specific cell types, affecting immune function.
research Dermoscopy of annular elastolytic giant cell granuloma
Dermoscopy helped diagnose a rare skin disease which slightly improved with treatment.
research Hematological, biochemical, and antioxidant status in sheep with skin disorders suffering from zinc, copper, and vitamin A deficiencies
Zinc, copper, and vitamin A deficiencies cause skin disorders in sheep.
research Treatment of Alopecia Areata with Anti-Interferon-γ Antibodies
Blocking interferon-gamma helps prevent and treat hair loss in Alopecia Areata.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Reply to ‘CD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia’: three PDC-related parameters are useful in differentiating lupus alopecia from LPP
Three characteristics of plasmacytoid dendritic cells help tell apart lupus-related hair loss from LPP.
research Decision letter: IL18 signaling promotes homing of mature Tregs into the thymus
IL-18 signaling helps mature Tregs move into the thymus.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research 004 Cell-based therapy may be effective in alopecia areata: Preclinical evidence that autologous, peripheral regulatory γdT cells are preventive in human ex vivo and therapeutic in human in vivo models
Cell-based therapy using specific immune cells may help treat alopecia areata by promoting hair regrowth.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.