research Genetics of thyroid lesions updated
RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
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research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research TOXIC EPIDERMAL NECROLYSIS
Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.
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 A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
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 Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research LB1028 Spontaneous keloid eruption in a patient on dialysis
Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
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 Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Epidermal Nevi
Epidermal nevi are skin cell clusters linked to various syndromes.
research Erythema Nodosum Associated with Kerion: A Case Series and Narrative Review of the Literature
Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
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 Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.