research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
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research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
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 Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research Onychogryphosis by an elastic wire
research Hair Matrix Cyst
Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
Antifungal treatment can improve severe skin infections with cutaneous horns.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research MOESM1 of A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.