research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
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research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Investigation of Oral Mucosal Lesions in Patients Attending Dermatology Outpatient Clinic: A Study of 1670 Cases
About 38% of patients at a dermatology clinic had oral lesions, with coated tongue, fissured tongue, and Fordyce granules being most common.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research G338(P) Dermatological manifestations in children with chronic kidney disease in a tertiary care center: a case-control study
Children with chronic kidney disease often have skin, hair, and nail problems.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations
Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
research Role of Ornithine Decarboxylase in Human Hair Follicles
Ornithine decarboxylase is crucial for human hair growth and the hair cycle.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research A Case of Secondary Osteoma Cutis Associated with Lichen Planopilaris
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research Dental Rehabilitation of a Child Diagnosed With Alopecia Areata Totalis: A Case Report
Improving oral health may help hair regrowth in children with alopecia areata.
research A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency
Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
research Viral-associated trichodysplasia in patients who are immunocompromised
Immunocompromised patients can develop skin and hair issues due to a virus.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.