research Body image and sexual interests in adolescents and young adults with Prader–Willi syndrome
Adolescents and young adults with Prader-Willi syndrome show a range of sexual interests and behaviors.
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810-840 / 1000+ results research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Pili Annulati with Multiple Fragile Hairs
Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
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 Precocious Puberty: A Case Report
Early diagnosis and treatment with Leuprolide are key for children with precocious puberty.
research Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Successful treatment of ulcerated infantile hemangioma associated with PELVIS syndrome using oral propanolol
Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Benign Mucous Membrane Pemphigoid
A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Familial frontal fibrosing alopecia in two male families
Frontal fibrosing alopecia has occurred in two related male families.
research Generalised Gingival Fibromatosis and Hypertrichosis: A Rare Case of Syndromic Presentation
A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.
research Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research [Perforating folliculitis].
Perforating folliculitis is a skin condition with small bumps that may be linked to other diseases and is hard to treat.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research SUMMARIES OF PAPERS
The document concludes that secondary syphilis cases are increasing and often misdiagnosed, pityriasis rubra pilaris can be distinguished from psoriasis by skin cell features, and different skin layers produce specific components during skin repair.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research WOOLY HAIR PALMOPLANTAR KERATODERMA : A CASE REPORT
Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
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.