research Unusual Case Presentation of Systemic Lupus Erythematosus in a Young Woman
A young woman with severe symptoms was diagnosed with SLE and improved significantly after treatment.
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research Pediatric Lichen Planopilaris: Clinicopathologic Study of Four New Cases and a Review of the Literature
Lichen Planopilaris in teens is rare, often misdiagnosed, and responds well to steroids.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia
Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
research Lipedema and lipedematous scalp: An overview
Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].
Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Lichen planopilaris
Lichen planopilaris is a rare, chronic condition causing hair loss, mainly in middle-aged women, and early treatment is important to prevent permanent baldness.
research P44 An acutely unwell and rare presentation of systemic lupus erythematosus; a case report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Ischemic Vaso-occlusive Retinopathy as Initial Presentation in Pediatric Systemic Lupus Erythematosus: A Case Report
Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research MON-330 Cushing Syndrome Secondary to Neuroendocrine Lung Carcinoma: To X-Ray or Not to X-Ray?
A chest X-ray can effectively diagnose ectopic ACTH secretion from lung tumors.
research Endocrine and metabolic comorbidities in juvenile-onset systemic lupus erythematosus
JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Presentation, diagnosis, and management options of lipedematous alopecia
Lipedematous alopecia involves a thickened scalp and hair loss, with limited effective treatments available.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research 127 Quality of life in patients with connective tissue diseases: results from the Lupus Extended Autoimmune Phenotype (LEAP) study
Many lupus patients experience hair loss, which is linked to anxiety and other skin issues.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.