research Possible Carbamazepine-Induced Reversible Onychomadesis
Carbamazepine may cause reversible nail detachment.
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810-840 / 1000+ results research SAT-240 Type B Insulin Resistance Resulting in Hyperthecosis in a Postmenopausal Woman
A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research Case of Cronkhite Canada Syndrome - A Non-Inherited Gastrointestinal Polyposis Syndrome
A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Treatment and Long-Term Outcome of COVID-19 Disease in Children with Inborn Errors of Immunity (IEI): Does Hematopoietic Stem Cell Transplantation (HSCT) Have a Protective Effect?
Hematopoietic stem cell transplantation does not significantly affect COVID-19 severity in children with immune disorders.
research Generation of an intestinal‐specific hephaestin knockout mouse
Knockout mice showed anemia and hair loss, suggesting other ways exist for iron absorption.
research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Feminizing Adrenocortical Carcinoma Without Gynecomastia
A man with a rare adrenal cancer showed unusual symptoms and died four months after diagnosis.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research [Black piedra in South Africa. 1st description in a child with bamboo hair, pili torti and congenital erythroderma ichthyosiforme].
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Mycobacterium avium subspecies hominissuis infection in a dog from Germany with multifocal alopecia, exfoliative dermatitis, hypercalcaemia and subsequent sebaceous atrophy
A dog in Germany was successfully treated for a rare bacterial infection without spreading it to humans.