research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research USING NATIONAL DATA SETS TO INFLUENCE AND SUPPORT NATIONAL HEALTH STRATEGY – WHY SHOULD WE FOCUS ON ADDRESSING INEQUALITIES AND UNWARRANTED VARIATION
National data helps improve palliative care by highlighting and addressing inequalities.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Autosomal recessive congenital ichthyosis due to PNPLA 1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE
Women experience various skin issues at different life stages, requiring careful treatment and awareness.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Thyroid diseases and skin autoimmunity
Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Homologous recombination induced by doxazosin mesylate and saw palmetto in the Drosophila wing‐spot test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research ALZHEIMER DISEASE: WHAT’S NEW, WHAT’S TRUE?
Alzheimer's may be treated by targeting gut bacteria and inflammation.
research Eph/ephrin signaling in epidermal differentiation and disease
Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Wnt Signaling in Skin Development, Homeostasis, and Disease
Wnt signaling is crucial for skin development and health, and its disruption can cause skin diseases.