research JAAD Grand Rounds quiz∗
The document explains the diagnosis and characteristics of woolly hair nevus and alopecia neoplastica.
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300-330 / 1000+ results research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Follicular Lichen Planus Caused by Wig Use: An Unusual Case of Koebner Phenomenon
Wearing a wig caused a woman's skin condition to worsen due to pressure from the wig's fasteners.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Vorasidenib-Induced Trichomegaly and Hypertrichosis: a New Side Effect in a Patient with Diffuse Astrocytoma
Vorasidenib can cause unusual hair growth.
research Familial association of polycystic ovary syndrome (PCOS) in women attending the gynaecological endocrinology clinic at Groote Schuur Hospital
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Pseudopelade of Brocq: a clinico-therapeutic challenge!
Pseudopelade of Brocq is hard to diagnose and treat, with limited effective options.
research Acquired perforating dermatosis in renal and diabetic patients
Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Granulomatosis Disciformis Chronica et Progressiva With Lymphadenopathy
A 31-year-old man has a chronic skin condition with red plaques, hair loss, and swollen lymph nodes.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.
ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Pediatric Radiation-Induced Alopecia Post Intracranial Vascular Malformation Embolization: A Case Report with Dermoscopic Findings
A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Widespread porokeratotic adnexal ostial nevus: Clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus
The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
research Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.