research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
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450-480 / 1000+ resultsresearch Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Menstrual Irregularity in Women with Acromegaly
Women with acromegaly often have irregular periods due to hormone imbalances and growth hormone effects.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Neuroendokrine paraneoplastische Syndrome
Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Current evaluation of amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research Pituitary-dependent hyperadrenocorticism in a terrier dog: A case report
The terrier dog with pituitary-dependent hyperadrenocorticism was successfully treated with mitotane.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
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 Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Maladaptive Hypothyroidism, or The Famine Response, After Bariatric Surgery: TSH not the Gold Standard For Detection
TSH is not reliable for detecting hypothyroidism after bariatric surgery; FT3/rT3 ratio is better.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research 7696 Ovarian Steroid Cell Tumor Presenting As Non-classical Adrenal Hyperplasia
Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
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 Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Skin Manifestations of Paediatric Metabolic Syndrome
Children with metabolic syndrome often have skin problems like dark patches, skin tags, stretch marks, infections, acne, and psoriasis, which are linked to obesity and insulin resistance.
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.