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.
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60-90 / 1000+ resultsresearch A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility*
A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Genetic correlation analysis does not associate male pattern baldness with COVID-19
There's no significant genetic link between male pattern baldness and COVID-19.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research Postgraduate seminar in pediatric dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research [Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan].
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
research Daily Circle of Calcium Concentration in Hair Observed by X-ray Fluorescence Analysis
Hair can show daily calcium changes, linked to body calcium levels and influenced by hormones, and can help assess calcium metabolism issues.
research Oestrogen receptor evaluation in Pomeranian dogs with hair cycle arrest (alopecia X) on melatonin supplementation
Melatonin helped some Pomeranian dogs regrow hair, but it wasn't linked to estrogen receptors.
research Recent advances in X-ray microanalysis in dermatology.
Trace elements like calcium, iron, and zinc are unevenly distributed in hair, while sulfur is even, and increased phosphorus and potassium levels are linked to skin reactions.
research Adrenal steroid hormone concentrations in dogs with hair cycle arrest (Alopecia X) before and during treatment with melatonin and mitotane
Melatonin and mitotane treatment led to hair re-growth in 62% of dogs with Alopecia X, but this was not always linked to normal hormone levels.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases
Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
research Androgenetic Alopecia in Men: An Update On Genetics
Androgenetic alopecia in men is genetic and linked to health issues like obesity and heart disease, with treatments including minoxidil, finasteride, and hair transplants.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Canine noninflammatory alopecia: a comprehensive evaluation of common and distinguishing histological characteristics
Different types of dog hair loss are linked to problems starting the hair growth phase and early hair cycle ending.
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.