research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
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240-270 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy
The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty
Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
research Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data
Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
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 Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research Hair shaft structures in EDAR induced ectodermal dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
research Short anagen syndrome in an African American woman
A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research External genitalia abnormalities in male rats exposed in utero to finasteride, a 5α-reductase inhibitor
Finasteride exposure in pregnancy causes genital abnormalities in male rats.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
research A direct link betweenPrss53, hair curvature, and skeletal dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Alopecia areata and Down syndrome: A true association and the importance of dermoscopic diagnosis
People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.