research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
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150-180 / 1000+ resultsresearch Kaposi Varicelliform Eruption in a Patient with Pemphigus Vulgaris: A Case Report and Review of the Literature
A patient with pemphigus vulgaris improved significantly after treatment for an additional viral skin infection.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Vogt-Koyanagi-Harada Disease in which Poliosis and Alopecia Occurred after a Long Period of Time.
A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
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 Ichtyosiform nevus in a 22-year-old woman
A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research TRACHYONYCHIA ASSOCIATED WITH ALOPECIA AREATA AND SECONDARY ONYCHOMYCOSIS
An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Identification of Trichophyton rubrum by Nested PCR Analysis from Paraffin Embedded Specimen in Trichophytia Profunda Acuta of the Glabrous Skin
Nested PCR can reliably identify fungal infections when traditional methods fail.
research Induction of ornithine decarboxylase in specific subpopulations of murine epidermal cells following multiple exposures to 12-O-tetradecanoylphorbol-13-acetate, mezerein and ethyl phenylpropriolate
TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
research Severe follicular hyperplasia and spontaneous papilloma formation in transgenic mice expressing theneu oncogene under the control of the bovine keratin 5 promoter
ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
research The molecular pathogenesis of Trichilemmal carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Trichoadenoma of Nikolowski- A Rare Tumour with Unusual Presentation Over Vulva
A rare hair follicle tumor was found on a woman's vulva.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Analysis of proliferation, apoptosis and keratin expression in cultured normal and immortalized human buccal keratinocytes
SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Ulerythema ophryogenes (keratosis pilaris atrophicans faciei).
Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.