research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
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research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Therapeutic potential of Sertoli cells in vivo: alleviation of acute inflammation and improvement of sperm quality
Sertoli cell transplants can reduce inflammation and improve sperm quality.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis
Sarcoidosis can cause severe high calcium levels, hair loss, and kidney failure.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research The investigation of selective sphingosine-1 phosphate receptor 1&4 modulator to treat alopecia areata mouse model 2881
The S1PR 1&4 modulator may effectively treat alopecia areata by reducing hair loss and immune cell activity.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Antihepcidin antibody treatment modulates iron metabolism and is effective in a mouse model of inflammation-induced anemia
Antihepcidin antibodies may treat inflammation-induced anemia by improving iron metabolism.
research 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
research The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Anemia Assessment among the First-trimester Pregnant Women: A Cross-sectional Hospital-based Study in Mysore District, Karnataka, India
Many first-trimester pregnant women in Mysore have anemia and iron deficiency, needing better care and interventions.
research Membranous nephropathy and lupus-like syndrome after hematopoietic cell transplantation: a case report
A man developed autoimmune issues after a transplant, improved with treatment, but died from leukemia relapse.
research IRON DEFICIENCY ANEMIA: SYMPTOMS, CAUSES AND TREATMENT
Iron deficiency anemia causes fatigue and can be managed with proper care.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Autoimmunity in Satoyoshi Disease: a Systematic Review
Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research 54767 Involvement of Calcinosis Cutis in Autoimmune Connective Tissue Diseases
Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
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.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research A 32‐year‐old woman with arthralgias and severe hypotension
Aggressive immunosuppressive treatment improved a woman's severe heart condition linked to autoimmune disease.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
research Generalized Alopecia with Vasculitis-Like Changes in a Dog with Babesiosis
The dog's skin and anemia issues returned after stopping treatment for Babesia gibsoni.
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.