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720-750 / 1000+ resultsresearch The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Kinky Hair Disease. Biochemical, Histochemical, and Ultrastructural Studies
research Morphologische und histochemische Untersuchungen von Haut. Schleimhäuten und Klauen bei Schweinen mit experimentellem Biotinmangel4
Biotin deficiency in pigs causes hair loss, skin issues, and weak claws.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Limb amputations; etiopathogenesis, diagnosis and the multidisciplinary therapeutic approach
Reducing accidents and treating vascular diseases can lower the need for life-impacting amputations.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research Assessment of Anemia Symptoms in People with Normal Hemoglobin and Low Ferritin
People with normal hemoglobin but low ferritin experience more fatigue and certain symptoms like restless leg syndrome and dizziness.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Monkeypox: A Histopathological and Transmission Electron Microscopy Study
The study found specific skin and cell changes in patients with monkeypox, helping diagnose and understand the disease.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research Successful treatment of alopecia areata‐associated trachyonychia with baricitinib
Baricitinib improved nail condition and hair regrowth in a patient with alopecia and nail abnormalities.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Acute Bullous Dermatosis and Onycholysis due to High-Dose Methotrexate and Leucovorin Calcium
High-dose methotrexate can cause severe skin and nail issues.
research Zinc Deficiency in Suckling Mice Deprived of Colostrum
Newborn mice need colostrum for zinc to grow normally.
research Epithelial skirt and bulge of human facial vellus hair follicles and and associated Merkel cell-nerve complex
Merkel cells are abundant in facial vellus hair follicles, especially during the anagen phase.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Revival of favus in Japan caused by Trichophyton schoenleinii
Favus, a rare fungal infection, has reappeared in Japan.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research 心音図の読み方の基礎 (心電図・心音図の価値と限界(特集))
Lichen spinulosus, usually seen in young people, can rarely occur in adults, as shown by a 52-year-old woman with a rough, bumpy rash.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Case Report: 8 years old boy with neurofibromatosis type one and Alopecia from KING ABDULAZIZ MEDICAL CITY OF THE NATIONAL GUARD. Saudi Arabia
An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
research Follicular keratotic diseases: a retrospective study of 50 cases in a tertiary care center of rural South India with dermoscopy and histopathology evaluation
Keratosis pilaris is common in young females, and dermoscopy helps diagnose it accurately.
research Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Skin Lesions in Drug Addicts
Drug addicts often have scars, skin color changes, blocked veins, and bruising, with severe ulcers from barbiturate injections.
research PREVALÊNCIA DE DISTÚRBIOS RESPIRATÓRIOS EM PACIENTES COM FISSURA LABIOPALATINA: REVISÃO SISTEMÁTICA
People with cleft lip and palate often have respiratory problems.