research Interparietal nodule in a 49‐year‐old woman
A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.
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research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Inflammatory Tinea Capitis (Kerion) Mimicking Dissecting Cellulitis.
Prompt treatment of inflammatory tinea capitis (kerion) is crucial to prevent scarring and hair loss.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
research Granulomatous Microscopic Colitis Due to Allopurinol
Allopurinol may cause rare granulomatous microscopic colitis.
research Viral-associated trichodysplasia in patients who are immunocompromised
Immunocompromised patients can develop skin and hair issues due to a virus.
research Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene
The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.
research The effect of gonadoliberin analog treatment in precocious puberty on polycystic ovarian syndrome prevalence in adulthood
Treating early puberty with hormone therapy may increase the risk of polycystic ovary syndrome in adults.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Poliosis circumscripta: Overview and underlying causes
Poliosis circumscripta is a patch of white hair caused by lack of melanin, linked to genetic and acquired conditions.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Pyoderma gangrenosum presented as generalized pustules in a patient with Crohn’s disease
Recognizing unusual symptoms in Crohn's disease is crucial for proper treatment.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research 8162 A Unique Presentation of Ovarian Steroid Cell Tumor Causing Hyperandrogenism in a Postmenopausal Woman
Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research BH02 Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with the AIRE gene mutation treated with ruxolitinib
Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
research Adult Kawasaki Disease: Report of Two Cases and Literature Review
Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.