research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
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research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research A Case of Loose Anagen Hair Syndrome in a Southeast Asian Boy
A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Acquired perforating dermatosis in renal and diabetic patients
Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
research Hair‐thread tourniquet syndrome
A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.
research Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Digital access to medical info can help identify rare conditions.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Loose Anagen Hair Syndrome in a Saudi Girl
A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Prevalence and Associated Factors of Diabetic ketoacidosis among Patients Living with Type 1 Diabetes in Makkah Al-Mukarramah City
Diabetic ketoacidosis is common among people with Type 1 diabetes in Makkah Al-Mukarramah City.
research Dacomitinib-Induced Paronychia Associated With PRIDE Syndrome in a Patient With Non-Small Cell Lung Cancer
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Study of Cutaneous Manifestations in End Stage Kidney Disease Undergoing Hemodialysis
Patients on hemodialysis commonly have skin color changes, nail problems, dry skin, and itching.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Cutaneuos findings in patients with predialysis chronic kidney disease
Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
research A Prospective Open Labelled Phase-II Non Randomized Clinical Trial On “Karunjchirakam Chooranam” for Raktha Soorai Vaayu (Poly Cystic Ovarian Syndrome)
Karunjchirakam Chooranam significantly improved symptoms in most PCOS cases.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Alopecia areata during the convalescent phase of kawasaki disease
A child's hair loss after Kawasaki disease may help understand the disease's autoimmune causes.
research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.