research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
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research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis
Hair follicle development involves specific cells and genes, crucial for understanding severe skin diseases like harlequin ichthyosis.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Symmetrical acrokeratoderma: A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
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 Clearance of ichthyosis linearis circumflexa with balneophototherapy
Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
research Skin iconography analysis of traumatic anserine folliculosis: Skin image feature of TAF
TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
research SKIN MANIFESTATIONS OF RHEUMATOLOGICAL DISEASES
Skin changes are key for early diagnosis and treatment of rheumatic diseases.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
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 A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Zebrafish Model of Hereditary Pigmentary Disorders
Zebrafish help understand genetic causes of skin pigment disorders like albinism.
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
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.