research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
Search
for
Sort by
Research
720-750 / 1000+ resultsresearch Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research 1397 LSD1 is critical for epidermal development and skin barrier formation
LSD1 is essential for healthy skin development and creating the skin's protective barrier.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling
Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Hematological, biochemical, and antioxidant status in sheep with skin disorders suffering from zinc, copper, and vitamin A deficiencies
Zinc, copper, and vitamin A deficiencies cause skin disorders in sheep.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research Anagen effluvium due to azathioprine in a patient with normal thiopurine S-methyltransferase levels: A videodermoscopic analysis
A woman's sudden hair loss was linked to azathioprine use despite normal enzyme levels, and improved after stopping the drug and starting treatment.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
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 A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Normolipemic xanthoma associated with folliculotropic mycosis fungoides
A man with a type of skin lymphoma had unusual yellowish skin growths despite normal blood lipid levels, and treatment reduced some symptoms but not the growths.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.