research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
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research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research The Anti-Muscle Atrophy Effects of Ishige sinicola in LPS-Induced C2C12 Myotubes through Its Antioxidant and Anti-Inflammatory Actions
Ishige sinicola extract may help prevent muscle atrophy through its antioxidant and anti-inflammatory effects.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
research A STUDY OF MUCOCUTANEOUS MANIFESTATIONS IN AUTOIMMUNE CONNECTIVE TISSUE DISORDERS AT TERTIARY CARE CENTRE
Skin and mucous symptoms are key for diagnosing autoimmune connective tissue diseases.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
research Monilethrix: an ultrastructural study
Monilethrix hair issues are due to problems in the hair's internodes.
research Pilomatrixoma of the Forearm in an Elderly Male
Pilomatrixoma should be considered for nodular lesions in adults.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Efeitos da fotobiomodulação no estresse oxidativo e seu impacto sobre a atrofia muscular por desnervação
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research A Case of a 50-Year-Old Female with Dermatomyositis Secondary to a Paraneoplasm (Infiltrating Ductal Carcinoma, Grade 2)
A 50-year-old woman with breast cancer developed an autoimmune skin disorder, highlighting the need for thorough checks and team-based treatment.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Trichoblastomas derived from the facial skin with tactile hair in aged house musk shrews (Suncus murinus)
Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Monilethrix: A rare hereditary condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.