research Letters to the Editors: Re: Tinnitus and Deafness: Rare Finasteride Side Effects
This report describes a rare side effect of finasteride in a previously healthy 40-year-old male patient.
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240-270 / 1000+ resultsresearch Rapunzel Syndrome as a Rare Presentation of Trichobezoar
This case report describes a 16-year-old girl with Rapunzel syndrome, where a trichobezoar presented as an abdominal lump, emphasizing the need for surgical removal and psychiatric evaluation to prevent recurrence.
research Rectal Bezoar: A Rare Cause of Intestinal Obstruction
This case study reports on an 86-year-old woman with a rectal bezoar causing intermittent intestinal obstruction and bleeding, highlighting the importance of considering bezoars in gastrointestinal bleeding diagnosis and removal.
research ESDR303 – The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
This study found that rare coding variants have a minimal contribution to male-pattern hair loss but identified significant associations with 125 genes, suggesting potential novel candidate genes.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
In this case study, a 55-year-old woman with androgenetic alopecia was ultimately diagnosed with hepatic cortisone reductase deficiency after initially suspected 21-hydroxylase deficiency was ruled out.
research High-content drug screening for rare diseases
This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
research Cronkhite-Canada Syndrome (CCS)—A Rare Case Report
This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
research Self-reported long COVID-19 symptoms are rare among vaccinated healthcare workers
This study observed a low rate of long-COVID lasting more than three months among mostly vaccinated healthcare workers during the Omicron wave, suggesting that further research is needed to assess the impact of different vaccines on long-COVID-19 in this group.
research Co-presentation of Tapia's syndrome and pressure alopecia—A rare event after septorhinoplasty: A case report and literature review
This report presents a case of Tapia's syndrome and pressure alopecia occurring simultaneously after open septorhinoplasty, emphasizing the need for awareness of these complications among anesthesiologists and surgeons.
research Plica neuropathica: novel presentation of a rare disease
This case report describes a unique instance of plica neuropathica in a 14-year-old girl linked to chronic illness and acute infection, leading to complete hair loss.
research Both Retinoic Acid Receptors α (RARα) and γ (RARγ) Are Able to Initiate Mouse Upper-Lip Skin Glandular Metaplasia
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
research Hair tourniquet syndrome of penis: A rare situation in boys with serious complications if not recognized
This case report describes a 4-year-old boy with Penile Hair Tourniquet Syndrome caused by a hair coil, highlighting the importance of early diagnosis in circumcised boys to prevent severe complications.
research Follicular Mycosis Fungoides: Variability of a Rare Entity
This case report details three patients with follicular mycosis fungoides, highlighting an impressive response to bexarotene in advanced cases, suggesting potential for further research on this treatment's effectiveness.
research Tumid Lupus Erythematosus and Systemic Lupus Erythematosus: A Report on Their Rare Coexistence
This case report presents a rare instance of coexistent tumid lupus erythematosus and systemic lupus erythematosus in a patient, with symptom improvement noted after hydroxychloroquine treatment.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
research Winer's dilated pore, rare presentation in the external ear canal
This case report presents a rare instance of Winer's dilated pore in a 51-year-old female, emphasizing its pathological features and the need for accurate differential diagnosis to avoid misinterpreting it for more serious conditions.
research Total melanonychia of 20 nails as a rare manifestation of vitamin B12 deficiency
This case report describes a 47-year-old male with rare total melanonychia linked to vitamin B12 deficiency, whose nail discoloration and constitutional symptoms improved following vitamin B12 supplementation.
research Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
This study details the successfully treated case of a 16-year-old girl with congenital alopecia due to encephalocraniocutaneous lipomatosis, resulting in high patient satisfaction after hair restoration.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
This case report describes a rare instance of a patient with anorexia nervosa who was subsequently diagnosed with Cushing's syndrome, highlighting diagnostic challenges due to overlapping symptoms.
research Chronic nonhealing ulcer in a finger of a toddler – a rare presentation of the hair thread tourniquet syndrome
This case report highlights a rare presentation of hair-thread tourniquet syndrome in a two-year-old child, emphasizing that prompt identification and removal of the constricting fiber is crucial for successful treatment and prevention of tissue damage.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
This case report describes a rare instance of Satoyoshi syndrome in a 27-year-old Asian American woman, notable for her normal ovarian function despite typical syndrome features.
research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
In this case report, a rare melanotrichoblastoma tumor was identified in a 51-year-old female following the histological and immunohistochemical analysis of a lesion on the pubo-inguinal area, presenting with strong epithelial marker positivity and a low proliferative index.
research Sertoli-Leydig Cell Tumour of Ovary with Menorrhagia: A Rare Case Report
This report describes a unique case of an ovarian Sertoli-Leydig cell tumor with estrogenic symptoms of menorrhagia, which is unusual given the typical androgenic manifestations.
research NCOG-40. RARE ADVERSE EFFECT OF TEMOZOLOMIDE IN A 65-YEAR-OLD FEMALE WITH GLIOBLASTOMA MULTIFORME: A CASE REPORT
This case report highlights the rare occurrence of life-threatening aplastic anemia in a 65-year-old woman treated with temozolomide for glioblastoma multiforme, emphasizing the need for more frequent blood monitoring to detect severe bone marrow suppression early.
research A Case Series on a Rare Clinical Presentation of Lichen Planopilaris Restricted to the Face
This case series describes five patients with rare facial lichen planopilaris, detailing the clinical presentation and treatment of their pigmentary changes and scarring alopecia.
research Folliculotropic mycosis fungoides in a child: a rare case
This source describes a case of a 12-year-old male diagnosed with folliculotropic mycosis fungoides, presenting with an asymptomatic, erythematous plaque. Histology and immunohistochemistry confirmed FMF, which is typically rare in children and marked by follicular infiltration by CD4+ lymphocytes.
research Bilateral Leydig Cell Hyperplasia: A Rare Cause of Postmenopausal Hirsutism
This case report describes a 64-year-old postmenopausal woman with hirsutism due to a rare case of bilateral diffuse ovarian Leydig cell hyperplasia, leading to normalized testosterone levels and improved glycaemic control following surgery.