research Serum Vitamin D Level in Pediatric Alopecia Areata
Vitamin D deficiency is common in children with and without alopecia areata, and more research is needed.
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research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Supratherapeutic Vitamin D with a Hair Nutraceutical: A Case Report
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Alopecia Areata and Vitamin D3 Deficiency: The Potential of Calcipotriol as a Treatment
Calcipotriol's effectiveness for treating alopecia areata is unclear and needs more research.
research VITAMIN D DEFICIENCY IN PATIENTS WITH ALOPECIA AERATA, AND RESPONSIVENESS TO VITAMIN D ANALOGUES: A SYSTEMATIC REVIEW
People with severe and long-lasting alopecia areata often have low vitamin D levels, and treatments with vitamin D-like substances might help.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research The skin and vitamin D
The skin produces and uses vitamin D for bone health, cell growth, and immune function.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research ラット精巣におけるビタミンD 代謝関連遺伝子の発現解析
The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Incidence of Vitamin D Deficiency in Patients with Female Pattern Hair Loss (FPHL)
Most women with female pattern hair loss have low vitamin D levels.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Vitamin D and the Epidermis
Vitamin D is important for skin cell growth and health, and its active form and receptor play key roles in skin and hair processes.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Systemic lupus erythematosus as a rare cause of hypercalcemia: A case report
Lupus can be a rare cause of high calcium levels in the blood.
research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Possible association of female-pattern hair loss with alteration in serum 25-hydroxyvitamin D levels
Women losing hair might have lower levels of vitamin D.
research SAT-358 Hypercalcemia-Induced Altered Mental Status as the Primary Manifestation of Classic Hodgkin Lymphoma
An 87-year-old man showed unusual signs of Hodgkin lymphoma, primarily high calcium levels, which improved after treatment and revealed the disease.
research Predictors of Vitamin D Insufficiency in Children and Adolescents With Alopecia Areata
Children with alopecia areata often have low vitamin D, especially if they have darker skin, it's not summer, or they're not White.
research Reduced expression of Vitamin D receptor (VDR) related to alopecia universalis by Wnt/b-catenin signaling pathway Immunobiology, Alopecia Areata
Reduced Vitamin D receptor expression may cause hair loss through the Wnt/b-catenin pathway.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.