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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960-990 / 1000+ results research Localized Epidermolysis Bullosa Simplex (Weber-Cockayne type)
A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
research Covas-Lift: Facial Enhancement
The Covas-Lift is a safe and effective facial rejuvenation method with shorter surgery time and high patient satisfaction.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Facial Rejuvenation Surgery: A Retrospective Study of 8788 Cases
Facial rejuvenation surgery has evolved to yield natural results with low complication rates, and more men and older patients are choosing this surgery.
research Pseudopelade of Brocq in beard area
Pseudopelade can affect both the scalp and beard, causing hair loss.
research Upper facial surgery: simultaneous hairline-lowering surgery during endoscopic forehead lifting
The combined surgery effectively rejuvenates the upper face without serious complications.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Co-presentation of Tapia's syndrome and pressure alopecia—A rare event after septorhinoplasty: A case report and literature review
A man developed rare complications after nose surgery, stressing the need for better prevention.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research [Nevus comedonicus. A rare skin disease of the hair follicles].
Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Complex Scalp Reconstruction with Super Thin DIEP Free Flap
A super thin DIEP flap can effectively reconstruct scalp defects with good skin coverage and contour.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Malignant appearance of trichilemmal cyst: a case report with review of the literature
A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
research Frontal Cicatricial Alopecia: An Unusual Complication of Otoplasty
Otoplasty can cause permanent hair loss if bandages are too tight.
research LATERALIZAÇÃO DO NERVO ALVEOLAR INFERIOR COMO ALTERNATIVA A INSTALAÇÃO DE IMPLANTES OSSEOINTEGRADOS NA REGIÃO POSTERIOR DA MANDÍBULA
research Alopécie fibrosante frontale associée à un lichen pigmentogène
Frontal fibrosing alopecia can occur in children, not just postmenopausal women.
research An unusual presentation of pilomatrixoma
A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
research Lipedematous scalp with lipedematous alopecia: A case report
A woman with a rare scalp condition causing a thick scalp and hair loss didn't improve with steroid treatment.
research Late onset nevus comedonicus of scalp: a rare site for an uncommon condition
A rare skin condition appeared on a 19-year-old woman's scalp.