research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
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750-780 / 1000+ results research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Leukemia cutis of the scalp masquerading as 'Kerion' in a child
Leukemia can sometimes appear as unusual skin issues in children.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research O-21 FROM ORAL LEVOTHYROXINE RESISTANCE TO INTRAVENOUS LEVOTHYROXINE HYPERSENSITIVITY: A CHALLENGING PRIMARY HYPOTHYROIDISM CASE
A woman with hypothyroidism developed an allergy to IV levothyroxine after being resistant to oral forms.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Telogen effluvium associated with eosinophilia-myalgia syndrome
Hair loss in a woman with eosinophilia-myalgia syndrome improved after stopping L-tryptophan and starting treatment.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research Lectinhistochemistry of Dorsal Skin of Wistar-derived Hypotrichotic WBN/Ila-Ht Rats.
The skin of both rat strains showed similar lectin binding patterns.
research Etiological Role of Ferritin and Vitamin D in Patients with Telogen Effluvium
Low ferritin levels might be linked to telogen effluvium, but vitamin D levels are not.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
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 Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Optic Nerve Changes in Zinc-deficient Rats
Zinc is essential for healthy optic nerves, and its deficiency can damage them.
research Dental manifestations in Vitamin D dependent rickets Type II with Alopecia: a short pictorial case report
Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
research Serum vitamin B12, folate, ferritin, and iron levels in turkish patients with alopecia areata
Vitamin B12, folate, ferritin, and iron levels are not linked to alopecia areata.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Skin Signs of Zinc Deficiency in Children: A clinical study in Jordan.
Zinc deficiency in children can cause skin issues and is often overlooked.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
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 The Significance of Serum Ferritin and vitamin D Levels in Females Patients with Chronic Telogen Effluvium
Low levels of iron and vitamin D might be linked to chronic hair loss in women.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.