research 42357 Bullous pemphigoid presenting as erythema multiforme-like targetoid lesions
Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
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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 Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Fibrosing Alopecia in a Pattern Distribution
FAPD and possibly CCCA may be AGA subtypes, and treatments combining antiandrogens, hair growth agents, hair transplants, and anti-inflammatories could be effective.
research Patchy presentation of central centrifugal cicatricial alopecia
CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Androgenic Alopecia and Coronary Artery Disease in Women: A Systematic Review
There may be a link between hair loss and heart disease in women, but more research is needed.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
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 Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research Application and Challenges of Chimeric Antigen Receptor T Cell Therapy in Systemic Rheumatic Diseases and Autoimmune Disorders
CAR-T cell therapy shows promise for treating autoimmune disorders but faces challenges like complex manufacturing and limited tissue penetration.
research ALOPECIA AREATA PROFILING SHOWS LNCRNAS REGULATE THE SUPPRESSED EXPRESSION OF KERATIN.
Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research RhoA promotes epidermal stem cell proliferation via PKN1-cyclin D1 signaling
RhoA helps skin stem cells grow, aiding wound healing.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.