research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
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570-600 / 1000+ results research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research “Anisotrichosis”: A novel term to describe pattern alopecia
The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Delleman syndrome or Haberland syndrome?
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Plica polonica: Trichoscopic findings with a brief literature review
Plica polonica is a rare condition where hair becomes irreversibly tangled, and the treatment is to cut the matted hair.
research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research Is Prenatal Sex Hormone Balance a Risk Factor for the Development of Hidradenitis Suppurativa
Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
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 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
research Dedicator of Cytokinesis 5 Regulates Keratinocyte Function and Promotes Diabetic Wound Healing
Dock5 is important for skin healing and could help treat diabetic wounds.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review (Preprint)
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Postoperative complicated appendectomy revealing Crohn’s disease in a pediatric patient
A 13-year-old boy's appendicitis surgery revealed Crohn's disease, highlighting the need for careful examination to guide treatment.
research GEOGRAPHIC TONGUE IN TWO CHILDREN WITH NONPUSTULAR PSORIASIS
Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
research Hair Tourniquet Syndrome, A missed diagnosis: Review of Literature
Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
research [Nevoid bundle hairs].
Naevoid bundle hair is an unusual hair growth pattern where multiple hairs fuse together.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.