research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
Search
for
Sort by
Research
570-600 / 1000+ resultsresearch Factors associated with premature hair graying in a young Indian population
Young Indians with premature graying often have lower levels of certain nutrients and unhealthy lifestyles.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Assessment of Serum Vit D and Serum Ferritin in Female Pattern Androgenic Alopecia
Females with androgenic alopecia have significantly lower vitamin D3 and ferritin levels.
research Epidemiological and biochemical factors (serum ferritin and vitamin D) associated with premature hair graying in Egyptian population
Low iron levels are linked to premature graying of hair, but vitamin D levels are not.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research P78 Acrodermatitis enteropathica in children: clinical cases
Zinc supplements and genetic analysis help treat acrodermatitis enteropathica in children.
research Epidemiological and investigative study of premature graying of hair in higher secondary and pre-university school children
Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
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 Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research ERYTHROMELANOSIS FOLLICULARIS FACIEI ET COLLI
Three Iranian men had reddish-brown facial pigmentation with no effective treatment.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Characteristics of serum immunoglobulin G N-glycans in male patients with androgenetic alopecia
Certain N-glycans may help assess hair loss severity in men with female-pattern hair loss.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Folliculitis decalvans and orofacial granulomatosis
Treatment with dapsone, topical corticosteroids, and antibiotics improved the man's skin conditions.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research Identification of Functional Patterns of Androgenetic Alopecia Using Transcriptome Profiling in Distinct Locations of Hair Follicles
AGA linked to inflammation, stress, fibrosis, and disturbed hair follicle stem cells.
research Pili annulati with fragility: Electron microscopic findings of a case
The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
research Autoimmune gastritis is common in patients with iron deficiency – Non-invasive evaluation of iron deficiency aside guideline recommendations
Autoimmune gastritis is a common cause of iron deficiency and should be included in diagnostic guidelines.
research Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature
A rare skin condition causes red, dark, bumpy facial lesions.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.