research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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630-660 / 1000+ results research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Folliculotropic mycosis fungoides of the scalp: A case report
Early diagnosis and treatment are crucial for managing Folliculotropic Mycosis Fungoides on the scalp.
research 571 Role of observation for excisionally biopsied moderately dysplastic nevi with positive histologic margins and risk of development of future melanoma
Watching, not removing, skin growths with moderate atypia and positive edges is okay; patients may get melanoma elsewhere, especially if they've had it before.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.
research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research ASSOCIATION OF SYSTEMIC LUPUS ERYTHEMATOSUS AND CHRONIC GRANULOMATOUS DISEASE IN ADULTS: REPORT OF 2 CASES
Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Clinical Case Notes. Malignant melanoma in eviscerated eyeball
Finasteride, often used for hair loss, can potentially cause cataracts.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Dermoscopy of pilomatricoma: A case report with a review of the literature
Dermoscopy helps doctors recognize a type of benign skin tumor called pilomatricoma.
research Adenolipoma—Eccrine and Apocrine Variants With Evidence for a Hamartomatous Process
Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
research A Window into Mammalian Basement Membrane Development: Insights from themTurq2-Col4a1Mouse Model
The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
research Clinical and histological study of permanent alopecia after bone marrow transplantation
Permanent hair loss after bone marrow transplant can be caused by chemotherapy or chronic graft-versus-host disease.
research Pigmented Epithelioid Melanocytoma (PEM)/Animal Type Melanoma (ATM): Quest for an Origin. Report of One Unusual Case Indicating Follicular Origin and Another Arising in an Intradermal Nevus
The conclusion is that Pigmented Epithelioid Melanocytoma can start from hair follicle stem cells or from a mole on the skin.
research Genetic defects of brain immunity in childhood herpes simplex encephalitis
research Atypical necrobiosis lipoidica of the face
A 36-year-old man had unusual skin lesions on his face without hair loss.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research 83 Combination Grafting
Combination grafting offers efficient, natural hair restoration in one session.
research Late-Onset Eruptive Clear Cell Syringoma: A Case Report and Literature Review
Elderly patients with eruptive skin bumps may have clear cell syringoma linked to glucose issues.
research A fast-growing skin lesion in a dialysis patient
A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research The incidence of diplopia following coronal and translid orbital decompression in Graves' orbitopathy
Orbital decompression surgery for Graves' orbitopathy caused double vision in 19% of patients, with similar rates for two surgical methods.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Trichoblastoma with sebaceous and sweat gland differentiation
A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
research Nevus comedonicus in a Malay man: A case report and review of literature
A 25-year-old Malay fireman had skin bumps on his neck that were removed successfully after other treatments failed.