research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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research Cómo hacer que dos más dos sumen cinco
Gentle hair care and some medications can help manage hair shaft disorders, but no specific treatment exists for congenital issues.
research Ectopic Adrenal Rests in Congenital Adrenal Hyperplasia as a Cause of Androgen Excess after Adrenalectomy Detected by Pelvic Venous Sampling
Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Critical Developmental Periods for Effects on Male Rat Genitalia Induced by Finasteride, a 5α-Reductase Inhibitor
Finasteride affects male rat genitalia development, causing abnormalities during specific pregnancy days.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Rare Case of Cutis Vertex Gyrata
A 21-year-old male has a rare scalp condition with excessive skin folds.
research Bilateral osteonecrosis of the femoral head associated with corticosteroid therapy for alopecia areata: a case report and review of the literature
Corticosteroid therapy for alopecia areata can cause severe hip bone damage.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Nail abnormalities in patients with vitiligo
Vitiligo patients often have nail problems, so checking their nails is important.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research ALTERAÇÕES FACIAIS DECORRENTES DO TRATAMENTO DA MÁ OCLUSÃO DE CLASSE III, COM DEFICIÊNCIA DE MAXILA, EMPREGANDO DISJUNÇÃO MAXILAR E TRAÇÃO REVERSA
The treatment improved facial structure and corrected bite issues in patients.
research Frontal Cicatricial Alopecia: An Unusual Complication of Otoplasty
Otoplasty can cause permanent hair loss if bandages are too tight.
research Perosomus elumbus fetal monster: a rare cause of dystocia in a beetal goat - a case report from Pakistan
A rare fetal malformation caused difficult birth in a goat, requiring surgery.
research Vestibuloplasty with Retroauricular Skin Grafts for Dental Implant Rehabilitation in Vascularized Fibula Grafts: Two Case Reports
Using skin grafts from behind the ear for oral surgery in two patients with jaw injuries led to successful healing and good results.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Suspected Calcinosis Cutis and Demodicosis, Secondary to an Exogenous Steroid Administration in a Dog with Hypoadrenocorticism
A dog developed skin issues from too many steroids, but reducing steroids and using a specific treatment fixed the problems.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Temporal triangular alopecia and a review of 52 past cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Hub biomarkers in ultrasound-guided bladder cancer and osteosarcoma: Myosin light chain kinase and caldesmon
Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.