research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
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research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Lack of association between Vitamin D receptor FokI polymorphism and alopecia areata.
Vitamin D receptor FokI gene variation is not linked to alopecia areata.
research The effect of hormones of the hypothalamic-pituitary-target gland axes in a kidney-yang deficiency syndrome model
Kidney-yang deficiency syndrome causes hormonal imbalances and various physical symptoms.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Atrophying scamous papulous dermatitis (Degos disease): Nine years of follow-up
A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research IKZF1 and Ikaros Overexpression Results in Alopecia Areata‐Like Phenotype in Mice
Overexpression of IKZF1 and Ikaros causes hair loss in mice similar to alopecia areata.
research Improvement of Satoyoshi syndrome with tacrolimus and corticosteroids
Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Unraveling a Rare Case: Diarrhea, Alopecia, and Polyposis
Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
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 Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Risks of alopecia areata in long COVID: Binational population‐based cohort studies from South Korea and Japan
COVID-19 increases the risk of hair loss, but vaccination can reduce this risk.
research Treatment of Satoyoshi syndrome: a systematic review
Corticosteroids are the most effective treatment for Satoyoshi syndrome.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Chronic tophaceous gout secondary to self-induced vomiting in anorexia nervosa
A woman with anorexia developed gout from self-induced vomiting.
research Application of Kampo Medicines for Treatment of General Fatigue Due to Long COVID
Kampo medicine can help treat general fatigue from long COVID.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Kaposi varicelliform eruption
Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.