research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
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90-120 / 1000+ resultsresearch Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
Hairy elbows may be linked to short stature, but the exact cause is unclear.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Author response: Intercellular propagation of extracellular signal-regulated kinase activation revealed by in vivo imaging of mouse skin
ERK activation spreads between cells, influencing cell division and wound healing.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Decision letter: Intercellular propagation of extracellular signal-regulated kinase activation revealed by in vivo imaging of mouse skin
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.
research Animal models of psoriasis—highlights and drawbacks
Animal models help study psoriasis but have limitations and don't fully mimic the human disease.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Characterization of Novel Cutaneous Human Papillomavirus Genotypes HPV-150 and HPV-151
HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.
research Lectin‐binding profiles for normal skin appendages and their tumors
Skin tumors and normal skin structures have different lectin-binding patterns.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research Eruptive vellus hair cysts: An underdiagnosed entity
Eruptive vellus hair cysts are often missed in diagnoses.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Adult patients with alopecia areata report a significantly better medication adherence compared to those with atopic dermatitis: Results from a large cross-sectional cohort study
Adults with alopecia areata stick to their medication better than those with atopic dermatitis.
research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Linear and Unilateral Basaloid Follicular Hamartoma Along Blaschko’s Lines in an Elderly Patient: A Rare Presentation
A rare skin condition was identified and planned for treatment in an elderly man.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Case 22
The dog had sebaceous adenitis, treated with ciclosporin, leading to some hair regrowth.
research 250 Sweat glands shrink upward with aging, causing dermal layer defects that lead to loss of skin elasticity and wrinkling-establishment of 3D imaging method for skin appendages
Aging causes sweat glands to shrink and move upward, leading to less elastic skin and more wrinkles.
research SkIndia Quiz 24: Itchy papules over face
A rare skin condition called Eruptive Vellus Hair Cyst can cause itchy papules on the face.
research 332 FINASTERIDE FOR RECURRENT PRIAPISM IN CHILDREN AND ADOLESCENTS WITH SICKLE CELL DISEASE (SCD). REPORT OF 5 CASES
Finasteride effectively reduced priapism episodes in children with sickle cell disease without side effects.
research Alopecia areata - probing the deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.