research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
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270-300 / 1000+ resultsresearch Systemic Lupus Erythematosus: Symptoms and Signs at Initial Presentations
Most patients with Systemic Lupus Erythematosus experience fatigue, skin issues, and joint pain.
research Polycystic Ovary Syndrome: A Common Reproductive and Metabolic Disorder Necessitating Early Recognition and Treatment
Early diagnosis and treatment of PCOS is crucial to reduce emotional distress and health risks.
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.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research The Significance of Scalp Involvement in Pemphigus: A Literature Review
Scalp involvement is common in pemphigus and can lead to hair loss, with the severity of scalp lesions linked to overall disease severity.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research The spectrum of nephrocutaneous diseases and associations
Skin doctors should know about skin and kidney disease links to prevent serious kidney problems.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research SARS-CoV-2-induced Host Metabolic Reprogram (HMR): Nutritional Interventions for Global Management of COVID-19 and Post-Acute Sequelae of COVID-19 (PASC)
Eating plant-based anti-inflammatories and antioxidants may help manage long-term COVID-19 health issues.
research Spironolactone in dermatology
Spironolactone is useful for treating acne and other skin conditions like excessive hair growth and certain types of hair loss.
research Botulinum toxin type A for the management of hidradenitis suppurativa.
Botulinum toxin type A injections may help treat hidradenitis suppurativa.
research Azithromycin with nitazoxanide, hydroxychloroquine or ivermectin, with or without dutasteride, for early stage COVID-19: an open-label prospective observational study in males with mild-to-moderate COVID-19 (The Pre-AndroCoV Male Trial).
Early treatment with certain drug combinations improved COVID-19 outcomes and prevented severe disease in males, including those at higher risk.
research Secondary Syphilis in Human Immunodeficiency Virus (HIV)-Infected Men Who Have Sex with Men (MSM): A Case Report
HIV-infected men who have sex with men are at higher risk for aggressive syphilis, but treatment and tests are effective.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Secondary syphilis presenting with alopecia and leukoderma in a stable HIV-positive patient in a resource-limited setting: a case report
Syphilis can cause hair loss and skin changes in HIV-positive patients, and proper treatment can resolve these symptoms.
research Botulinum toxin type A for the management of hidradenitis suppurativa.
Botulinum toxin type A may help treat hidradenitis suppurativa.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Syphilis: today
Syphilis is becoming more common and remains a major health problem due to challenges in prevention and treatment.
research Prevalence of polycystic ovary syndrome under NIH criteria among the tenth-grade Chinese schoolgirls in Guangzhou area: a cross-sectional epidemiological survey
Polycystic Ovary Syndrome (PCOS) was found in 3.86% of tenth-grade girls in Guangzhou, China, with higher rates in overweight and obese girls, suggesting diagnosis should focus on hyperandrogenemia.
research Bullous lesions in patients with cutaneous lupus erythematosus: A clinicopathologic study
Careful histologic examination is crucial to differentiate types of bullous lesions in cutaneous lupus erythematosus.
research Remarks on the Hormonal Background of the Male Equivalent of Polycystic Ovary Syndrome
Men might have a version of the female disease, polycystic ovarian syndrome, shown by changes in hormone levels and early baldness, but more research is needed to fully understand it.
research Azithromycin with nitazoxanide, hydroxychloroquine or ivermectin, with or without dutasteride, for early stage COVID-19: an open-label prospective observational study in males with mild-to-moderate COVID-19 (The Pre-AndroCoV Male Trial).
Men with male pattern baldness had worse COVID-19 symptoms, but early treatment with certain drugs improved outcomes for all.