research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
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510-540 / 1000+ results research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Alopecia Universalis Associated with Cutaneous T Cell Lymphoma
Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
research Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning
TSC2 is crucial for proper hair follicle development and patterning.
research Transient Bullous Dermolysis of the Newborn
The newborn's skin condition improved over time, leaving only lighter skin patches.
research Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study
Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
research Alopecia areata and Down syndrome: A true association and the importance of dermoscopic diagnosis
People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
research Temporal Triangular Alopecia: Report of Five Cases in Asian Children
Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.
research Therapeutic management of hypothyrodism with concurrent babesiosis in a non-descript dog
The dog improved significantly after treatment and needs lifelong thyroid medication.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Attending persistent T cell activation in alopecia areata : A therapeutic option
Blocking certain proteins on immune cells may help treat alopecia areata.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research From Bald to Bold: Reversal of Alopecia Totalis in an Adolescent Using Dupilumab Monotherapy
Dupilumab helped a 13-year-old regrow hair after alopecia totalis.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research CD4 T cells from mice with alopecia areata express an effector like phenotype and can transfer disease
CD4 T cells can cause alopecia areata by activating CD8 T cells to attack hair follicles.
research Adult Patients with Aphallia: Were they Fertile?
The document does not determine if adults with aphallia are fertile.
research Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Congenital Lipedematous Alopecia in a 6-Year-Old Asian Boy
A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Autoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies
Autoimmune thyroid disease raises the risk of many health issues but lowers the risk of lung cancer and allergic rhinitis.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research T helper type 2 immune response in alopecia areata
Allergies, especially dust mite allergy, may worsen alopecia areata, and desensitization could help reduce its severity.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Multiple follicular abnormalities in a 1‐year old cat consistent with basaloid follicular hamartomas
A one-year-old cat had multiple benign skin tumors similar to those known in humans.