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.
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30-60 / 1000+ resultsresearch A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
A boy with a rare skin condition improved quickly after starting zinc supplements.
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Application of Platelet-Rich Gel in Repairing Scalp Defects Combined with Skull Exposure: A Case Series Analysis
Platelet-rich gel is an effective treatment for healing scalp wounds with exposed skull.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Cutaneuos findings in patients with predialysis chronic kidney disease
Almost all patients with chronic kidney disease not yet on dialysis have at least one skin problem.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Redução da região frontal com incisão pré-capilar: relato de experiência e indicações
The procedure is effective for reducing the forehead despite potential for visible scars.
research The eyelash comes to the fore
Eyelashes are important for looks and eye protection, and more people are treating sparse eyelashes; more research is needed to understand eyelash biology and improve treatments.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen
Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research The overexpression of R-spondin 3 affects hair morphogenesis and hair development along with the formation and maturation of the hair follicle stem cells
Overexpression of R-spondin 3 leads to sparse hair and impaired hair regeneration.
research Pubic Hair Transplantation
Pubic hair transplantation can improve self-esteem in those with sparse pubic hair.
research Effect of intense pulsed light treatment on human skinin vitro: analysis of immediate effects on dermal papillae and hair follicle stem cells
Intense pulsed light treatment mainly damages pigmented hair parts but spares stem cells, allowing hair to regrow.