research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
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research 923 Molecular phenotyping of lichen planopilaris revealed dysregulation of cholesterol/fatty acid metabolism, fibrosis and mast cell pathways
Lichen planopilaris involves disrupted fat metabolism, increased scarring, and mast cell activity.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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 Pseudomonas aeruginosa heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection
Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
research Lack of association between clinical and biochemical hyperandrogenism in patients with polycystic ovary syndrome
Clinical signs of excess male hormones and actual hormone levels in the blood do not always match in women with polycystic ovary syndrome.
research PLASMA C19 STEROID SULPHATE LEVELS AND INDICES OF ANDROGEN BIOAVAILABILITY IN FEMALE PATTERN ANDROGENIC ALOPECIA
Women with female pattern hair loss have higher levels of certain androgens, suggesting increased androgen exposure to hair follicles.
research IMMUNOLOGICAL AND SOME BIOLOGICAL BIOMARKERS INVESTIGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
No single biomarker is reliable enough for diagnosing and assessing SLE.
research Hypothyroidism, eyelash loss
Eyelash loss can be a sign of thyroid problems.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
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 Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Case number 19th of perforating necrobiosis lipoidica worldwide
The document reports the 19th global case of a rare skin condition in a patient from Colombia.
research Lichen planus pigmentosus and lichen planopilaris
Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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 Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research LÍQUEN PLANO PILAR – RELATO DE UM CASO ASSOCIADO A DOENÇAS AUTOIMUNES
Early recognition and treatment of LPP can prevent hair loss and improve quality of life.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Letters: CD4+ Lymphocytopenia in Systemic Lupus Erythematosus
CD4+ lymphocytopenia can occur in patients with systemic lupus erythematosus.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.