research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
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research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research A boggy swelling of the scalp
A rare calcium deposit condition was found on a man's scalp.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research A Systematic Approach to Afro-Textured Hair Disorders
Dermatoscopy helps diagnose hair and scalp disorders in people with Afro-textured hair, but more research is needed for better understanding and treatment.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research 012 A Case Report of Central Centrifugal Cicatricial Alopecia in Two Generations
CCCA can affect both genders and all ages, and it has a genetic component.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Diagnostic and Therapeutic Assessment of Frontal Fibrosing Alopecia
The document concludes that there are no reliable treatments for frontal fibrosing alopecia, with only temporary benefits from current options.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
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 Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research Alopecia areata incognita in Cronkhite-Canada syndrome
The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Alopecia Areata Mimicking Frontal Fibrosing Alopecia
A woman's hair loss was initially misdiagnosed as scarring hair loss but was actually a treatable autoimmune hair loss.
research Examination of Clinical and Demographic Characteristics of 14 Cases with Frontal Fibrosing Alopecia
Early diagnosis and treatment can prevent or delay frontal fibrosing alopecia progression in postmenopausal women.
research Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae
A man with scalp and neck skin issues improved after a year of oral isotretinoin.
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.